1) Researchers have discovered a new genetic test using mitochondrial genes that can more accurately predict cancer recurrence than current methods. The test analyzes over 400 mitochondrial genes and certain genes were found to predict recurrence up to 5 times higher.
2) Genetics provides an understanding of the biological composition of humans and pathological processes. It involves studying gene mapping, inheritance of diseases, and molecular mechanisms of how genes cause disorders. This knowledge aids in diagnosis and treatment.
3) A study used genome editing to block a gene, OCT4, that is important for early human embryo development. This revealed the gene is necessary for proper formation of the blastocyst. Understanding key genes needed for embryo development could improve IVF treatments and shed
This document discusses personalized medicine, which aims to provide the right treatment for each individual patient based on their genetic profile. It defines personalized medicine as tailoring medical treatment to each patient's characteristics, needs and preferences. The development of genomic sequencing allows for more precise treatment by understanding how genetic variations impact drug metabolism and response. Pharmacogenomics studies how DNA and RNA variations affect drug effectiveness. Implementing personalized medicine through genetic testing can help reduce disease burden by improving prevention, treatment and healthcare costs while minimizing risks.
Personalized Medicine in Diagnosis and Treatment of Cancer Maryam Rafati
The document discusses next generation sequencing (NGS) and its applications in personalized medicine for cancer diagnosis and treatment. It provides examples of several families with hereditary cancer syndromes who were analyzed using NGS to identify pathogenic variants. The results demonstrated higher response rates and prolonged progression-free and overall survival for cancer patients receiving personalized treatments based on biomarkers identified by NGS, compared to non-personalized treatments. NGS can detect somatic and germline mutations to classify cancers at a molecular level and guide precision oncology.
The maturation of genomic technologies has enabled new
discoveries in disease pathogenesis as well as new approaches to patient care.
In pediatric oncology, patients may now receive individualized genomic analysis to identify molecular aberrations of relevance for diagnosis and/or treatment.
Several recent clinical studies have begun to explore the feasibility and utility of genomics-driven precision medicine.
Whiteman et al-1998-international_journal_of_cancerSilvina Verna
This study investigated the relationship between p53 expression and risk factors for cutaneous melanoma using a case-control study design. Tissue samples from 121 melanoma cases were analyzed for p53 expression using immunohistochemistry. Abnormal p53 expression was detected in 22 samples (18%). Risk factors for p53-positive melanoma included an inability to tan and history of non-melanoma skin cancer. Risk factors for p53-negative melanoma included high nevus count and heavy freckling. The results suggest there may be two pathways in melanoma pathogenesis characterized by p53 overexpression related to chronic sun exposure and pigment cell instability.
This document summarizes several research articles on medical genetics. It discusses findings that thousands of genes can influence most diseases through tiny contributions, rather than a few major genes. It also describes a new method using RNA sequencing to diagnose genetic disorders by revealing errors in DNA execution and identifying candidate genes. The student believes further investigating gene networks and non-coding regions will be important for understanding rare conditions and developing treatments.
The document discusses advances in medical genetics including the development of an early blood test for Alzheimer's disease and a new system called CAPTURE for characterizing regulatory DNA sequences. The early Alzheimer's test detects signs of the disease before symptoms appear by examining RNA transcripts in leukocytes. CAPTURE allows researchers to isolate and study proteins and DNA interactions that control gene regulation, offering insights into diseases. These advances offer opportunities to better understand disease causes and influence conditions through earlier detection and treatment.
Date held: February 12, 2015
Presented by: Deb Davison, Genomic Health
Topics discussed:
The latest in genomic testing and its role in cancer treatment
The most recent results from Genomic Health’s second independent clinical validation study of Oncotype DX® in DCIS patients
Q&A session about the implications of this research
This document discusses personalized medicine, which aims to provide the right treatment for each individual patient based on their genetic profile. It defines personalized medicine as tailoring medical treatment to each patient's characteristics, needs and preferences. The development of genomic sequencing allows for more precise treatment by understanding how genetic variations impact drug metabolism and response. Pharmacogenomics studies how DNA and RNA variations affect drug effectiveness. Implementing personalized medicine through genetic testing can help reduce disease burden by improving prevention, treatment and healthcare costs while minimizing risks.
Personalized Medicine in Diagnosis and Treatment of Cancer Maryam Rafati
The document discusses next generation sequencing (NGS) and its applications in personalized medicine for cancer diagnosis and treatment. It provides examples of several families with hereditary cancer syndromes who were analyzed using NGS to identify pathogenic variants. The results demonstrated higher response rates and prolonged progression-free and overall survival for cancer patients receiving personalized treatments based on biomarkers identified by NGS, compared to non-personalized treatments. NGS can detect somatic and germline mutations to classify cancers at a molecular level and guide precision oncology.
The maturation of genomic technologies has enabled new
discoveries in disease pathogenesis as well as new approaches to patient care.
In pediatric oncology, patients may now receive individualized genomic analysis to identify molecular aberrations of relevance for diagnosis and/or treatment.
Several recent clinical studies have begun to explore the feasibility and utility of genomics-driven precision medicine.
Whiteman et al-1998-international_journal_of_cancerSilvina Verna
This study investigated the relationship between p53 expression and risk factors for cutaneous melanoma using a case-control study design. Tissue samples from 121 melanoma cases were analyzed for p53 expression using immunohistochemistry. Abnormal p53 expression was detected in 22 samples (18%). Risk factors for p53-positive melanoma included an inability to tan and history of non-melanoma skin cancer. Risk factors for p53-negative melanoma included high nevus count and heavy freckling. The results suggest there may be two pathways in melanoma pathogenesis characterized by p53 overexpression related to chronic sun exposure and pigment cell instability.
This document summarizes several research articles on medical genetics. It discusses findings that thousands of genes can influence most diseases through tiny contributions, rather than a few major genes. It also describes a new method using RNA sequencing to diagnose genetic disorders by revealing errors in DNA execution and identifying candidate genes. The student believes further investigating gene networks and non-coding regions will be important for understanding rare conditions and developing treatments.
The document discusses advances in medical genetics including the development of an early blood test for Alzheimer's disease and a new system called CAPTURE for characterizing regulatory DNA sequences. The early Alzheimer's test detects signs of the disease before symptoms appear by examining RNA transcripts in leukocytes. CAPTURE allows researchers to isolate and study proteins and DNA interactions that control gene regulation, offering insights into diseases. These advances offer opportunities to better understand disease causes and influence conditions through earlier detection and treatment.
Date held: February 12, 2015
Presented by: Deb Davison, Genomic Health
Topics discussed:
The latest in genomic testing and its role in cancer treatment
The most recent results from Genomic Health’s second independent clinical validation study of Oncotype DX® in DCIS patients
Q&A session about the implications of this research
1) Identification of gene signatures and biomarkers in breast cancer, such as the Notch pathway, may help develop targeted therapies for different subtypes. 2) The Notch pathway promotes breast cancer stem cell growth and inhibiting it with gamma secretase inhibitors reduces cancer cell proliferation and invasion. 3) PARP inhibitors show promise as a targeted treatment for triple negative breast cancer associated with BRCA mutations by exploiting "synthetic lethality" - inhibiting both BRCA and PARP pathways kills cancer cells. Large-scale identification of PARP substrates may help identify predictive markers for effective PARP inhibitor therapy.
Clinical Trials for Metastatic Breast Cancerbkling
Courtney Hudson, CEO and Co-Founder of EmergingMed, explains the latest clinical trials for metastatic breast cancer and how to find them. Learn how to identify appropriate clinical trials, determine eligibility and "must ask" questions for the researchers, find strategies to determine your best options, and figure out which questions to ask when making your decisions.
The document describes the approach taken by one institution, Mayo Clinic, to implement individualized medicine into clinical practice through a standalone Individualized Medicine (IM) Clinic. The IM Clinic was designed to overcome barriers to translating genomic medicine into routine patient care. Initial services offered by the IM Clinic included whole exome sequencing for patients with undiagnosed genetic conditions (diagnostic odyssey) and tumor sequencing for cancer patients who have failed standard therapies. The IM Clinic utilizes a multidisciplinary team approach and coordinates various components including genomic counseling, sample collection, sequencing, data analysis, expert review boards, and communication of results to patients. The goals are to improve patient outcomes by enabling more targeted and personalized care approaches.
Precision Medicine in Oncology InformaticsWarren Kibbe
Precision medicine in oncology aims to provide targeted cancer treatments based on a patient's individual tumor characteristics. The presentation discusses precision oncology initiatives including NCI-MATCH clinical trials which assign cancer therapies based on a tumor's molecular abnormalities rather than location. It outlines plans to expand genomically-based cancer trials, understand and overcome treatment resistance through molecular analysis, and establish a national cancer database integrating genomic and clinical data to accelerate cancer research. Cloud computing platforms are being developed to provide researchers access to large cancer genomic and clinical datasets. The goal is to advance precision cancer treatment by incorporating individual patient genetics and biomarkers into therapeutic decision making.
SILS 2015 - Connecting Precision Medicine to Precision Wellness Sherbrooke Innopole
By: Joel Dudley, Mount Sinai School of Medicine
At Sherbrooke International Life Sciences Summit - 2nd edition | September 28/29/30 2015
www.sils-sherbrooke.com
This document discusses the components of a cancer genetic counseling session. It describes the process of obtaining a family history, assessing cancer risks, discussing genetic testing options and implications for family members. Key parts of the session include getting informed consent, choosing an appropriate candidate for testing, determining cancer risks, implications for relatives, and making management recommendations even if testing is declined.
Prostate cancer is the most prevalent and second cause of death from cancer in
men worldwide. Immunotherapy is a new method for the treatment of several cancers
that fights cancer cells by strengthening the immune system through some medications.
While immunotherapy is a useful method for cancer treatment; its’ side effects still are
not totally clarified. Numbers of prostate cancer patients which take immunotherapy are
experiencing prostate inflammation and prostatitis after treatment period.
Enterococcus faecalis is Gram-positive and catalase-negative cocci that are common
in the intestines of humans and other animals and cause most enterococcal infections such as intestinal
infections, prostatitis, gastroenteritis and endocarditic. Present study aimed to evaluate the mRNA level of virulence genes which are involved in Enterococcus faecalis pathogenesis in prostate cancer patients that treated by immunotherapy. Expression level of gelatinase E (gelE) and Enterococcal surface protein (
esp genes were examined by Real time PCR in three groups of 68 male subjects. Group A normal subjects, group B prostate cancer patients before start treatment and group C prostate cancer patients after six months immunotherapy period.
This systematic review and meta-analysis examines the prognostic value of microRNAs (miRNAs) as biomarkers for survival outcomes in nasopharyngeal carcinoma (NPC). A total of 21 studies involving 5,069 NPC patients were included. Sixty-five miRNAs were evaluated in the meta-analysis. The results showed that upregulated miRNA expression was associated with a 19% increased likelihood of death in NPC patients. However, larger and more prospective studies are still needed to conclusively determine the clinical significance of miRNAs as prognostic biomarkers for NPC survival.
Realize preventive medicine through predictive risk profiling, determining baseline markers of wellness and variability, and engaging in personalized pre-clinical interventions
The dream of any physician and consequently every patient is to receive the right treatment in the right time with cost effectiveness. To achieve this goal, the 3 pillars: evidence based medicine, clinical research innovation & resources utilization should be integrated efficiently.
In this presentation, I'll try to comprehensively review the following:
1- How are we used to perform clinical trials in Oncology?
2- Does it fits in today’s needs?
3- Integration of biology knowledge in shaping drug development
4- New Clinical trial designs “Can they offer solution for accelerating drug development?”
5- The supporting infrastructure role in clinical trial execution
Chapter 15 precision medicine in oncologyNilesh Kucha
This document discusses precision medicine in oncology and molecular monitoring of cancer patients. It describes how molecular characterization of tumors can guide treatment decisions and help develop targeted therapies. Next-generation DNA sequencing is allowing large amounts of tumor DNA to be analyzed to identify molecular targets and guide clinical trials matching treatments to tumor mutations. Challenges include limiting sequencing to known targets, accounting for germline variants, incidental findings, and integrating sequencing results into clinical decision making. Repeated biopsies during treatment can provide insights into drug sensitivity and resistance mechanisms in individual patients.
This document summarizes a study that used DNA microarrays to analyze gene expression patterns in ovarian carcinomas. The key findings include:
1) The study identified groups of genes that distinguished clear cell ovarian carcinomas from other subtypes, and low-grade from high-grade serous papillary carcinomas.
2) Six clear cell carcinomas were distinguished from 36 other ovarian carcinomas based on their gene expression patterns.
3) A comparison of ovarian carcinomas to breast cancers revealed 62 genes that correctly classified all 125 specimens, with genes like PAX8, mesothelin, and ephrin-B1 more highly expressed in ovarian carcinomas.
SHARE: Metastatic Breast Cancer: Cutting-Edge Research from National Cancer w...bkling
Patricia Steeg, PhD, Chief of Women's Cancers Section at the Center for Cancer Research at NCI, will present her novel research relating to metastatic breast cancer, including the development of experimental models of brain metastasis. Join SHARE and Dr. Steeg for this nformative webinar.
Please share this webinar with anyone who may be interested!
Watch all our webinars: https://www.youtube.com/playlist?list=PL4dDQscmFYu_ezxuxnAE61hx4JlqAKXpR
Cancer care is increasingly tailored to individual patients, who can undergo genetic or biomarker testing soon after diagnosis, to determine which treatments have the best chance of shrinking or eliminating tumours.
In this webinar, a pathologist and clinical oncologist discuss:
● how they are using these new tests,
● how they communicate results and treatment options to patients and caregivers, and
● how patients can be better informed on the kinds of tests that are in development or in use across Canada
View the video: https://youtu.be/_Wai_uMQKEQ
Follow our social media accounts:
Twitter - https://twitter.com/survivornetca
Facebook - https://www.facebook.com/CanadianSurvivorNet
Pinterest - https://www.pinterest.com/survivornetwork
YouTube - https://www.youtube.com/user/Survivornetca
The evolving promise of genomic medicine ibm white paperPietro Leo
The document discusses how genomic medicine is transforming healthcare and life sciences through advanced technologies. It predicts that within 3-5 years, individuals interacting with the healthcare system will likely have a genome-based electronic health record called a "genomic health record." It also predicts that whole genome sequencing capabilities will increasingly occur in cloud-based environments, enabling aggregation and analysis of multiple genomic data sources. Finally, it states that transformational opportunities exist for industries to leverage cognitive computing throughout discovery, engagement, and improving health outcomes.
Protocol for the Treatment Prostate Cancer - Dr Serge JurasunasSheldon Stein
Dr. Serge Jurasunas shares his Prostate Cancer Protocol in this paper, explaining the nature and treatment of Prostate Cancer from a Naturopathic Oncology Perspective. Professor Jurasunas is located in Lisbon Portugal and has lectured worldwide throughout his 50 years as a clinician.
He explains what can be done about the #1 cause of death in males even before lung cancer and what can be done, from the new perspective of Naturopathic Oncology.He offers an example, explains diagnostic procedures with Molecular markers and addresses detox, supplements and treatment.
Further information may be found in his new book, Health and Disease Begin in the Colon" and in his Blog: Naturopathiconcology.blogspot.com .
Opportunities for Immune Therapy and Preventionbkling
This document summarizes a presentation on opportunities for immunotherapy in breast cancer. It discusses how the immune system fights cancer, types of immunotherapy including checkpoint inhibitors and CAR T-cell therapy. Experience with immunotherapy in breast cancer has been underwhelming due to breast cancer typically having low numbers of immune cells, but responses have been seen in triple negative and HER2+ breast cancers. Future opportunities include increasing immune cells prior to standard treatments and engaging the immune system in the adjuvant setting to reduce recurrence risks.
A slide series to learn and appreciate the importance and the potential of Personalized/Individualized Genomic Medicine. It briefly goes through the idea of biotechnology and the advancements we have made in biology and technology. A series of applications for genomic medicine is then explored, not failing to mention the challenges we have to overcome as well, for the next medical revolution.
A case for personalized medicine is presented.
With recent advances in Healthcare, Personalized medicine has become a buzzword. The customization of health care, based on DNA sequencing, patient's environmental information, can lead to more efficient treatments.
By integrating various sources of data, personalized medicine improves all aspects of healthcare from prevention to monitoring.
This document summarizes a presentation on genes and environment in personalized medicine. It discusses:
1) How existing databases of gene-disease associations are limited for applying genome sequencing results to an individual patient due to incomplete data.
2) A database called VARIMED that aims to address these limitations by curating over 12,000 papers and 192,000 SNPs and their associations with 4,400 diseases and phenotypes.
3) Challenges in moving from odds ratios to likelihood ratios for assessing disease risk based on genomic data and an individual's clinical information.
Recent developments in p53 and nano oncologytazib rahaman
Recent research into the tumor suppressor gene TP53 and its role in cancer prognosis and treatment:
1) The largest study to date of TP53 mutations in over 10,000 cancer patients across 32 cancer types found correlations between mutation types and patient survival rates, and identified 4 genes whose expression levels are associated with prognosis.
2) Additional research suggests that the PBRM1 gene, which is often mutated in kidney cancer, interacts with TP53, indicating TP53 may play a more important role in kidney cancer than previously believed.
3) A research team received $1.8 million in funding to develop new ovarian cancer therapies targeting TP53 by reactivating its function and investigating its role in cancer development
1) Identification of gene signatures and biomarkers in breast cancer, such as the Notch pathway, may help develop targeted therapies for different subtypes. 2) The Notch pathway promotes breast cancer stem cell growth and inhibiting it with gamma secretase inhibitors reduces cancer cell proliferation and invasion. 3) PARP inhibitors show promise as a targeted treatment for triple negative breast cancer associated with BRCA mutations by exploiting "synthetic lethality" - inhibiting both BRCA and PARP pathways kills cancer cells. Large-scale identification of PARP substrates may help identify predictive markers for effective PARP inhibitor therapy.
Clinical Trials for Metastatic Breast Cancerbkling
Courtney Hudson, CEO and Co-Founder of EmergingMed, explains the latest clinical trials for metastatic breast cancer and how to find them. Learn how to identify appropriate clinical trials, determine eligibility and "must ask" questions for the researchers, find strategies to determine your best options, and figure out which questions to ask when making your decisions.
The document describes the approach taken by one institution, Mayo Clinic, to implement individualized medicine into clinical practice through a standalone Individualized Medicine (IM) Clinic. The IM Clinic was designed to overcome barriers to translating genomic medicine into routine patient care. Initial services offered by the IM Clinic included whole exome sequencing for patients with undiagnosed genetic conditions (diagnostic odyssey) and tumor sequencing for cancer patients who have failed standard therapies. The IM Clinic utilizes a multidisciplinary team approach and coordinates various components including genomic counseling, sample collection, sequencing, data analysis, expert review boards, and communication of results to patients. The goals are to improve patient outcomes by enabling more targeted and personalized care approaches.
Precision Medicine in Oncology InformaticsWarren Kibbe
Precision medicine in oncology aims to provide targeted cancer treatments based on a patient's individual tumor characteristics. The presentation discusses precision oncology initiatives including NCI-MATCH clinical trials which assign cancer therapies based on a tumor's molecular abnormalities rather than location. It outlines plans to expand genomically-based cancer trials, understand and overcome treatment resistance through molecular analysis, and establish a national cancer database integrating genomic and clinical data to accelerate cancer research. Cloud computing platforms are being developed to provide researchers access to large cancer genomic and clinical datasets. The goal is to advance precision cancer treatment by incorporating individual patient genetics and biomarkers into therapeutic decision making.
SILS 2015 - Connecting Precision Medicine to Precision Wellness Sherbrooke Innopole
By: Joel Dudley, Mount Sinai School of Medicine
At Sherbrooke International Life Sciences Summit - 2nd edition | September 28/29/30 2015
www.sils-sherbrooke.com
This document discusses the components of a cancer genetic counseling session. It describes the process of obtaining a family history, assessing cancer risks, discussing genetic testing options and implications for family members. Key parts of the session include getting informed consent, choosing an appropriate candidate for testing, determining cancer risks, implications for relatives, and making management recommendations even if testing is declined.
Prostate cancer is the most prevalent and second cause of death from cancer in
men worldwide. Immunotherapy is a new method for the treatment of several cancers
that fights cancer cells by strengthening the immune system through some medications.
While immunotherapy is a useful method for cancer treatment; its’ side effects still are
not totally clarified. Numbers of prostate cancer patients which take immunotherapy are
experiencing prostate inflammation and prostatitis after treatment period.
Enterococcus faecalis is Gram-positive and catalase-negative cocci that are common
in the intestines of humans and other animals and cause most enterococcal infections such as intestinal
infections, prostatitis, gastroenteritis and endocarditic. Present study aimed to evaluate the mRNA level of virulence genes which are involved in Enterococcus faecalis pathogenesis in prostate cancer patients that treated by immunotherapy. Expression level of gelatinase E (gelE) and Enterococcal surface protein (
esp genes were examined by Real time PCR in three groups of 68 male subjects. Group A normal subjects, group B prostate cancer patients before start treatment and group C prostate cancer patients after six months immunotherapy period.
This systematic review and meta-analysis examines the prognostic value of microRNAs (miRNAs) as biomarkers for survival outcomes in nasopharyngeal carcinoma (NPC). A total of 21 studies involving 5,069 NPC patients were included. Sixty-five miRNAs were evaluated in the meta-analysis. The results showed that upregulated miRNA expression was associated with a 19% increased likelihood of death in NPC patients. However, larger and more prospective studies are still needed to conclusively determine the clinical significance of miRNAs as prognostic biomarkers for NPC survival.
Realize preventive medicine through predictive risk profiling, determining baseline markers of wellness and variability, and engaging in personalized pre-clinical interventions
The dream of any physician and consequently every patient is to receive the right treatment in the right time with cost effectiveness. To achieve this goal, the 3 pillars: evidence based medicine, clinical research innovation & resources utilization should be integrated efficiently.
In this presentation, I'll try to comprehensively review the following:
1- How are we used to perform clinical trials in Oncology?
2- Does it fits in today’s needs?
3- Integration of biology knowledge in shaping drug development
4- New Clinical trial designs “Can they offer solution for accelerating drug development?”
5- The supporting infrastructure role in clinical trial execution
Chapter 15 precision medicine in oncologyNilesh Kucha
This document discusses precision medicine in oncology and molecular monitoring of cancer patients. It describes how molecular characterization of tumors can guide treatment decisions and help develop targeted therapies. Next-generation DNA sequencing is allowing large amounts of tumor DNA to be analyzed to identify molecular targets and guide clinical trials matching treatments to tumor mutations. Challenges include limiting sequencing to known targets, accounting for germline variants, incidental findings, and integrating sequencing results into clinical decision making. Repeated biopsies during treatment can provide insights into drug sensitivity and resistance mechanisms in individual patients.
This document summarizes a study that used DNA microarrays to analyze gene expression patterns in ovarian carcinomas. The key findings include:
1) The study identified groups of genes that distinguished clear cell ovarian carcinomas from other subtypes, and low-grade from high-grade serous papillary carcinomas.
2) Six clear cell carcinomas were distinguished from 36 other ovarian carcinomas based on their gene expression patterns.
3) A comparison of ovarian carcinomas to breast cancers revealed 62 genes that correctly classified all 125 specimens, with genes like PAX8, mesothelin, and ephrin-B1 more highly expressed in ovarian carcinomas.
SHARE: Metastatic Breast Cancer: Cutting-Edge Research from National Cancer w...bkling
Patricia Steeg, PhD, Chief of Women's Cancers Section at the Center for Cancer Research at NCI, will present her novel research relating to metastatic breast cancer, including the development of experimental models of brain metastasis. Join SHARE and Dr. Steeg for this nformative webinar.
Please share this webinar with anyone who may be interested!
Watch all our webinars: https://www.youtube.com/playlist?list=PL4dDQscmFYu_ezxuxnAE61hx4JlqAKXpR
Cancer care is increasingly tailored to individual patients, who can undergo genetic or biomarker testing soon after diagnosis, to determine which treatments have the best chance of shrinking or eliminating tumours.
In this webinar, a pathologist and clinical oncologist discuss:
● how they are using these new tests,
● how they communicate results and treatment options to patients and caregivers, and
● how patients can be better informed on the kinds of tests that are in development or in use across Canada
View the video: https://youtu.be/_Wai_uMQKEQ
Follow our social media accounts:
Twitter - https://twitter.com/survivornetca
Facebook - https://www.facebook.com/CanadianSurvivorNet
Pinterest - https://www.pinterest.com/survivornetwork
YouTube - https://www.youtube.com/user/Survivornetca
The evolving promise of genomic medicine ibm white paperPietro Leo
The document discusses how genomic medicine is transforming healthcare and life sciences through advanced technologies. It predicts that within 3-5 years, individuals interacting with the healthcare system will likely have a genome-based electronic health record called a "genomic health record." It also predicts that whole genome sequencing capabilities will increasingly occur in cloud-based environments, enabling aggregation and analysis of multiple genomic data sources. Finally, it states that transformational opportunities exist for industries to leverage cognitive computing throughout discovery, engagement, and improving health outcomes.
Protocol for the Treatment Prostate Cancer - Dr Serge JurasunasSheldon Stein
Dr. Serge Jurasunas shares his Prostate Cancer Protocol in this paper, explaining the nature and treatment of Prostate Cancer from a Naturopathic Oncology Perspective. Professor Jurasunas is located in Lisbon Portugal and has lectured worldwide throughout his 50 years as a clinician.
He explains what can be done about the #1 cause of death in males even before lung cancer and what can be done, from the new perspective of Naturopathic Oncology.He offers an example, explains diagnostic procedures with Molecular markers and addresses detox, supplements and treatment.
Further information may be found in his new book, Health and Disease Begin in the Colon" and in his Blog: Naturopathiconcology.blogspot.com .
Opportunities for Immune Therapy and Preventionbkling
This document summarizes a presentation on opportunities for immunotherapy in breast cancer. It discusses how the immune system fights cancer, types of immunotherapy including checkpoint inhibitors and CAR T-cell therapy. Experience with immunotherapy in breast cancer has been underwhelming due to breast cancer typically having low numbers of immune cells, but responses have been seen in triple negative and HER2+ breast cancers. Future opportunities include increasing immune cells prior to standard treatments and engaging the immune system in the adjuvant setting to reduce recurrence risks.
A slide series to learn and appreciate the importance and the potential of Personalized/Individualized Genomic Medicine. It briefly goes through the idea of biotechnology and the advancements we have made in biology and technology. A series of applications for genomic medicine is then explored, not failing to mention the challenges we have to overcome as well, for the next medical revolution.
A case for personalized medicine is presented.
With recent advances in Healthcare, Personalized medicine has become a buzzword. The customization of health care, based on DNA sequencing, patient's environmental information, can lead to more efficient treatments.
By integrating various sources of data, personalized medicine improves all aspects of healthcare from prevention to monitoring.
This document summarizes a presentation on genes and environment in personalized medicine. It discusses:
1) How existing databases of gene-disease associations are limited for applying genome sequencing results to an individual patient due to incomplete data.
2) A database called VARIMED that aims to address these limitations by curating over 12,000 papers and 192,000 SNPs and their associations with 4,400 diseases and phenotypes.
3) Challenges in moving from odds ratios to likelihood ratios for assessing disease risk based on genomic data and an individual's clinical information.
Recent developments in p53 and nano oncologytazib rahaman
Recent research into the tumor suppressor gene TP53 and its role in cancer prognosis and treatment:
1) The largest study to date of TP53 mutations in over 10,000 cancer patients across 32 cancer types found correlations between mutation types and patient survival rates, and identified 4 genes whose expression levels are associated with prognosis.
2) Additional research suggests that the PBRM1 gene, which is often mutated in kidney cancer, interacts with TP53, indicating TP53 may play a more important role in kidney cancer than previously believed.
3) A research team received $1.8 million in funding to develop new ovarian cancer therapies targeting TP53 by reactivating its function and investigating its role in cancer development
Scientists are researching genetic treatments to prevent disease by applying genetics to medical care and developing new therapies. A recent study found that extracts from axolotl oocytes were able to reactivate tumor suppressor genes in cancer cells and stop cancer growth in breast cancer cells for 60 days by changing epigenetic marks on DNA. However, simply sequencing genes to identify genetic variants does not provide a full picture of human disease, as the impact of variants needs to be determined through functional studies using good experimental models to better understand complex inherited disorders.
Gene mutations and their effects on cancer treatment and pregnancy were discussed. One study found that BRCA1 mutation carriers have lower ovarian reserves, suggesting guidance on pregnancy timing could help prevent complications. Another studied combining drugs with gene mutations to target cancer cells, believing this personalized approach may lead to more effective treatments. Both aimed to deepen understanding of cancer processes and genetics to eventually improve patient care and quality of life through more precise medical approaches.
The documents discuss gene mutations and their impact on cancer treatment. The first document discusses how BRCA1 and BRCA2 mutations impact ovarian reserves and risks for ovarian and fallopian tube cancer. It suggests guiding pregnancy for carriers. The second discusses finding drug-gene mutation combinations that target cancer cell growth and death. Researchers study existing drugs' effects with gene disruptions, seeking combinations that "fight" cancer cells. Both aim to advance personalized cancer treatment using genetics information. Future doctors may administer more precise treatments without trial and error.
The document discusses how genomic medicine is transforming healthcare and life sciences industries. Three major forces - innovation in biology and technology, market demand, and consumerism - are driving an evolution in genomic medicine. In the next 3-5 years, an individual's interactions with the healthcare system will likely involve a genome-based electronic health record containing their genomic data. This will allow for more personalized care, prevention, and treatment options based on a patient's genomic information. Industries must prepare for this change by developing genomic medicine strategies and addressing skills gaps to capitalize on new advances in science and technology.
This document discusses two studies on analyzing DNA variations to predict disease outcomes and develop new treatments. The first study found that a new biomarker called cMethDNA detected in blood samples could predict the survival of women with advanced breast cancer within 4 weeks of treatment. The second study identified DNA variations associated with inflammatory cytokines and found an existing drug may treat multiple sclerosis and Crohn's disease. Both studies demonstrated how analyzing genetic variations could help customize treatment approaches for patients.
Biology and medicine have a close relationship where biology serves as an important tool for medicine. Studies on cellular metabolism and the role of proteins in cell division have helped further our understanding of diseases from the beginning. Research on a single protein that controls genetic networks essential for sperm development found that without this protein, sperm development is abnormal. A separate study on mitochondrial diseases found they are becoming more frequent and costly to healthcare systems, highlighting the need for improved prevention and treatment strategies. Advances in understanding basic biological mechanisms allow for more effective diagnosis and management of illnesses.
Improved diagnostic test benefits children with acute myeloidMarcos Arango
The document discusses several molecular biology laboratory techniques being used and improved upon to better understand and treat diseases. Flow cytometry can identify cancer cells from normal cells and detect minimal residual disease to help focus treatment. Comparing methods to identify ALL and AML, flow cytometry was found to be better than microscopy or PCR at handling patients. Understanding fibronectin fiber malformations through new probes may help explain certain pathologies by allowing scientists to see and regulate deformation processes on a molecular level. Overall, these biomolecular tests and techniques aim to improve patient welfare and treatment by providing more targeted and effective care.
1. The document discusses recent discoveries about genetic variations between human genomes and structural variants that can disrupt genes.
2. It describes how identifying these exact genetic sequences of variations can help researchers narrow their searches for disease-causing mutations and develop new treatment possibilities.
3. The continued investigation of protein coding in genes is important for developing new and effective medications, as well as methods for disease prevention and health promotion.
This document summarizes two genetic studies on cancer. The first study mapped genetic mutations in cutaneous melanoma and identified four subtypes. It also found a protein related to immune response that is overexpressed in melanoma cells. The second study linked a genetic variation in the FOPNL gene to poorer survival rates in multiple myeloma patients, but the mechanism is still unknown. Both studies help locate genes of interest and their variations in diseases, which can inform targeted cancer therapies and improve patient outcomes.
A normal cell can be transformed into a cancerous cell. Discuss the therapeutic strategies that are employed to target the cellular transformation process for cancer prevention and treatment.
P53 protein can repair DNA damage before cell replication. Studies found higher rates of germline DNA repair mutations in men with metastatic prostate cancer, such as with the BRCA1, BRCA2, MHSH2, and HOXB13 genes. These mutations were independent of family history and age of diagnosis. A limitation is that the studies only focused on specific genes and not how multiple genes may interact to influence disease. The student notes that identifying DNA mutations could help various cancer types and that education is needed on tobacco and UV radiation risks.
This document summarizes two studies related to molecular biology and medicine. The first study developed a mathematical model to predict how variations in DNA sequences can influence RNA splicing and potentially cause pathologies. The second study examined the methylome (DNA methylation patterns) of triple-negative breast cancer and compared it to healthy DNA to reveal distinct patterns that could help diagnose cancer progression or prognosis. Understanding these genetic variations and how they relate to disease is important for medical practice and developing prevention and treatment approaches.
The central-dogma-oh-genetic-informationDaniel Madrid
The central dogma of genetics describes the flow of genetic information from DNA to RNA to proteins. Two articles discuss cancer-causing mechanisms related to this dogma. One found that the enzyme APOBEC3G can induce mutations during DNA replication that lead to cancer. The other identified that cancer cells rely on the protein SMARCAL1 to resolve replication stress and maintain telomere length through the ALT pathway. Further research is needed to identify targets of these carcinogenic processes to develop new treatment strategies.
This document summarizes two recent studies on ovarian cancer published in PLoS Medicine. The first study found that biomarkers for ovarian cancer are more strongly associated with histological subtypes than disease stage, suggesting molecular profiling may be needed to properly classify and manage different subtypes. The second study identified an 86-gene expression profile from tumor samples that predicts survival outcomes in patients with advanced ovarian cancer. Validation in independent studies is still needed, but the findings provide encouraging progress in developing prognostic markers and molecular signatures to help guide personalized treatment of ovarian cancer.
What is greenhouse gasses and how many gasses are there to affect the Earth.moosaasad1975
What are greenhouse gasses how they affect the earth and its environment what is the future of the environment and earth how the weather and the climate effects.
ESPP presentation to EU Waste Water Network, 4th June 2024 “EU policies driving nutrient removal and recycling
and the revised UWWTD (Urban Waste Water Treatment Directive)”
This presentation explores a brief idea about the structural and functional attributes of nucleotides, the structure and function of genetic materials along with the impact of UV rays and pH upon them.
ESR spectroscopy in liquid food and beverages.pptxPRIYANKA PATEL
With increasing population, people need to rely on packaged food stuffs. Packaging of food materials requires the preservation of food. There are various methods for the treatment of food to preserve them and irradiation treatment of food is one of them. It is the most common and the most harmless method for the food preservation as it does not alter the necessary micronutrients of food materials. Although irradiated food doesn’t cause any harm to the human health but still the quality assessment of food is required to provide consumers with necessary information about the food. ESR spectroscopy is the most sophisticated way to investigate the quality of the food and the free radicals induced during the processing of the food. ESR spin trapping technique is useful for the detection of highly unstable radicals in the food. The antioxidant capability of liquid food and beverages in mainly performed by spin trapping technique.
When I was asked to give a companion lecture in support of ‘The Philosophy of Science’ (https://shorturl.at/4pUXz) I decided not to walk through the detail of the many methodologies in order of use. Instead, I chose to employ a long standing, and ongoing, scientific development as an exemplar. And so, I chose the ever evolving story of Thermodynamics as a scientific investigation at its best.
Conducted over a period of >200 years, Thermodynamics R&D, and application, benefitted from the highest levels of professionalism, collaboration, and technical thoroughness. New layers of application, methodology, and practice were made possible by the progressive advance of technology. In turn, this has seen measurement and modelling accuracy continually improved at a micro and macro level.
Perhaps most importantly, Thermodynamics rapidly became a primary tool in the advance of applied science/engineering/technology, spanning micro-tech, to aerospace and cosmology. I can think of no better a story to illustrate the breadth of scientific methodologies and applications at their best.
Comparing Evolved Extractive Text Summary Scores of Bidirectional Encoder Rep...University of Maribor
Slides from:
11th International Conference on Electrical, Electronics and Computer Engineering (IcETRAN), Niš, 3-6 June 2024
Track: Artificial Intelligence
https://www.etran.rs/2024/en/home-english/
BREEDING METHODS FOR DISEASE RESISTANCE.pptxRASHMI M G
Plant breeding for disease resistance is a strategy to reduce crop losses caused by disease. Plants have an innate immune system that allows them to recognize pathogens and provide resistance. However, breeding for long-lasting resistance often involves combining multiple resistance genes
Phenomics assisted breeding in crop improvementIshaGoswami9
As the population is increasing and will reach about 9 billion upto 2050. Also due to climate change, it is difficult to meet the food requirement of such a large population. Facing the challenges presented by resource shortages, climate
change, and increasing global population, crop yield and quality need to be improved in a sustainable way over the coming decades. Genetic improvement by breeding is the best way to increase crop productivity. With the rapid progression of functional
genomics, an increasing number of crop genomes have been sequenced and dozens of genes influencing key agronomic traits have been identified. However, current genome sequence information has not been adequately exploited for understanding
the complex characteristics of multiple gene, owing to a lack of crop phenotypic data. Efficient, automatic, and accurate technologies and platforms that can capture phenotypic data that can
be linked to genomics information for crop improvement at all growth stages have become as important as genotyping. Thus,
high-throughput phenotyping has become the major bottleneck restricting crop breeding. Plant phenomics has been defined as the high-throughput, accurate acquisition and analysis of multi-dimensional phenotypes
during crop growing stages at the organism level, including the cell, tissue, organ, individual plant, plot, and field levels. With the rapid development of novel sensors, imaging technology,
and analysis methods, numerous infrastructure platforms have been developed for phenotyping.
Nucleophilic Addition of carbonyl compounds.pptxSSR02
Nucleophilic addition is the most important reaction of carbonyls. Not just aldehydes and ketones, but also carboxylic acid derivatives in general.
Carbonyls undergo addition reactions with a large range of nucleophiles.
Comparing the relative basicity of the nucleophile and the product is extremely helpful in determining how reversible the addition reaction is. Reactions with Grignards and hydrides are irreversible. Reactions with weak bases like halides and carboxylates generally don’t happen.
Electronic effects (inductive effects, electron donation) have a large impact on reactivity.
Large groups adjacent to the carbonyl will slow the rate of reaction.
Neutral nucleophiles can also add to carbonyls, although their additions are generally slower and more reversible. Acid catalysis is sometimes employed to increase the rate of addition.
EWOCS-I: The catalog of X-ray sources in Westerlund 1 from the Extended Weste...Sérgio Sacani
Context. With a mass exceeding several 104 M⊙ and a rich and dense population of massive stars, supermassive young star clusters
represent the most massive star-forming environment that is dominated by the feedback from massive stars and gravitational interactions
among stars.
Aims. In this paper we present the Extended Westerlund 1 and 2 Open Clusters Survey (EWOCS) project, which aims to investigate
the influence of the starburst environment on the formation of stars and planets, and on the evolution of both low and high mass stars.
The primary targets of this project are Westerlund 1 and 2, the closest supermassive star clusters to the Sun.
Methods. The project is based primarily on recent observations conducted with the Chandra and JWST observatories. Specifically,
the Chandra survey of Westerlund 1 consists of 36 new ACIS-I observations, nearly co-pointed, for a total exposure time of 1 Msec.
Additionally, we included 8 archival Chandra/ACIS-S observations. This paper presents the resulting catalog of X-ray sources within
and around Westerlund 1. Sources were detected by combining various existing methods, and photon extraction and source validation
were carried out using the ACIS-Extract software.
Results. The EWOCS X-ray catalog comprises 5963 validated sources out of the 9420 initially provided to ACIS-Extract, reaching a
photon flux threshold of approximately 2 × 10−8 photons cm−2
s
−1
. The X-ray sources exhibit a highly concentrated spatial distribution,
with 1075 sources located within the central 1 arcmin. We have successfully detected X-ray emissions from 126 out of the 166 known
massive stars of the cluster, and we have collected over 71 000 photons from the magnetar CXO J164710.20-455217.
Remote Sensing and Computational, Evolutionary, Supercomputing, and Intellige...University of Maribor
Slides from talk:
Aleš Zamuda: Remote Sensing and Computational, Evolutionary, Supercomputing, and Intelligent Systems.
11th International Conference on Electrical, Electronics and Computer Engineering (IcETRAN), Niš, 3-6 June 2024
Inter-Society Networking Panel GRSS/MTT-S/CIS Panel Session: Promoting Connection and Cooperation
https://www.etran.rs/2024/en/home-english/
The ability to recreate computational results with minimal effort and actionable metrics provides a solid foundation for scientific research and software development. When people can replicate an analysis at the touch of a button using open-source software, open data, and methods to assess and compare proposals, it significantly eases verification of results, engagement with a diverse range of contributors, and progress. However, we have yet to fully achieve this; there are still many sociotechnical frictions.
Inspired by David Donoho's vision, this talk aims to revisit the three crucial pillars of frictionless reproducibility (data sharing, code sharing, and competitive challenges) with the perspective of deep software variability.
Our observation is that multiple layers — hardware, operating systems, third-party libraries, software versions, input data, compile-time options, and parameters — are subject to variability that exacerbates frictions but is also essential for achieving robust, generalizable results and fostering innovation. I will first review the literature, providing evidence of how the complex variability interactions across these layers affect qualitative and quantitative software properties, thereby complicating the reproduction and replication of scientific studies in various fields.
I will then present some software engineering and AI techniques that can support the strategic exploration of variability spaces. These include the use of abstractions and models (e.g., feature models), sampling strategies (e.g., uniform, random), cost-effective measurements (e.g., incremental build of software configurations), and dimensionality reduction methods (e.g., transfer learning, feature selection, software debloating).
I will finally argue that deep variability is both the problem and solution of frictionless reproducibility, calling the software science community to develop new methods and tools to manage variability and foster reproducibility in software systems.
Exposé invité Journées Nationales du GDR GPL 2024
2. Medical
Genetics
By
Manuela Carvajal Alzate
Teacher:
Lina María Martínez
University:
Pontificia Bolivariana
University
Medical utility
Genetics have an absolute
transcendental role in medicine,
because a big number of pathologies in
the human been are associated to a
strong genetic component, that, as
progress is made in this field, it proves
increasingly the influence of genes in
more quantity of disorders. Thus, is so
important the knowledge, the study of
the genetics in medicine, because this
gives the tools to understand the
genetics components that originate or
influence the apparition of many
sickness.
Bibliography
• New genetic test for predicting cancer
recurrence. (2017). ScienceDaily.
Retrieved 25 September 2017, from
https://www.sciencedaily.com/releases/201
7/09/170921095026.htm
• New genetic test for predicting cancer
recurrence. (2017). ScienceDaily.
Retrieved 25 September 2017, from
https://www.sciencedaily.com/releases/201
7/09/170921095026.htm
• Jorde, L., Carey, J., & Bamshad, M.
Genética Médica.
• MARTINEZ SÁNCHEZ, Lina María.
Biología molecular. 8. ed. Medellín: UPB.
Fac. of Medicine, 2015. 109-115 p
3. Introduction
It comprehends the study of the
variation and the human heritage,
also the use in the medicine. It
includes various studies that allows
to reach this end; like the mapping of
genes that causes sickness in specific
chromosomes, molecular mechanism
that explain how the genes causes all
this disorder, the heritage of sickness
in families, among others. A part of
all this utility in the diagnostic and
the treatment of pathologies that
affect the human been; all of this
because in the present days the
medicine has an accentuated
emphasis in the prevention, the
genetics play a fundamental role on
this preventive process.
New genetic test
for predicting
cancer recurrence
Discovery of a new genetic test that helps in
predicting metastasis in cancer; is based on the
detection of certain mitochondrial genes, which
can be tested in biopsies. Mitochondrial analysis
is more accurate than current methods on
predicting a patient's response to cancer
treatment. This advance is not only a test in
which the use of mitochondria as biomarkers is
discovered, but also as potential targets for drugs.
Personal comment
This type of advances, which give medicine tools
not only in terms of knowledge of the disease
mechanisms and the factors associated with its
recidivism, but also in possible attempts to treat
pathologies in which there is still uncertainty
about effectiveness of current therapeutic
alternatives
Personal comment
hanks to the information provided by genetics to
medicine when they complement each other, today
there are different types of tests at a molecular level
that aim to find genes associated with the expression
of various disorders, also the search for genomic
sequences that predispose to the expression of these
conditions.
Genome editing techniques were used to avoid
production of the OCT4 protein by blocking a gene.
This protein is activated in the first days of
development of the human embryo, which is
necessary for proper formation of the blastocyst,
(shown in the results of this study). OCT4 has
relevance in the biology of stem cells, which are
"pluripotent" (that is, they can become any other
type of cell).The result of this research project
provides a new understanding on the responsible
genes for a crucial change when groups of cells in
the very early embryo are organized and established
in different paths of development.
Genome editing reveals role
of gene important for human
embryo development
4. Introduction
It comprehends the study of the variation and the human heritage, also the use in the medicine. It includes
various studies that allows to reach this end; like the mapping of genes that causes sickness in specific
chromosomes, molecular mechanism that explain how the genes causes all this disorder, the heritage of
sickness in families, among others. A part of all this utility in the diagnostic and the treatment of
pathologies that affect the human been; all of this because in the present days the medicine has an
accentuated emphasis in the prevention, the genetics play a fundamental role on this preventive process.
The proteins are coded because the DNA, in particular, their primary structure. The majority part of the
DNA is at the level of the chromosomes, condensed inside the nucleus. Big part of the focus in the uses of
the genetics in the medicine, is concentrated on the study of the problems related to the transmission of
heritable characters.
The genetics, brings a base to understand the fundamental biological composition of the human been,
carrying though a better comprehension of the pathological process.
The scientific study of this, depends mainly of the analysis of the study of the mating between individuals.
5. New genetic test for predicting cancer
recurrence
Recent investigations have thrown the discovery of a
new genetic prove that helps on the prediction
regarding to the metastasis on the cancer.
The prove its based on the detection of certain
mitochondrial genes which can be checked on
biopsies.
On this investigation, it is said that the analysis on
the mitochondrial level, is more exactly that the
actual methods of predict the answer of a patient to
the treatment against cancer. The doctor Michael P
Lisant, coauthor of this study, affirms that the early
detection of the metastasis is transcendental on the
patient prognostic, because whit this information is
possible to act on an effective way.
6. New genetic test for predicting cancer
recurrence
Federica sotgia, Marco Fiorillo, Michael P. Lisanti., also mentioned in
their investigations, permanent uncertainty that exist because the
reappearance of the cancer or not, emphasizing the fact of that now
whit the utilization of this new prove, to know who will respond or not
to the treatment, is a tool that generate tranquility to the doctors, like
to the patients and their families.
The mitochondria are
described like the cells who
causes the secondary
recreation or also called
metastasis.
whereby
The mitochondrial genes are
more accurate in the
prediction of recidivism of
cancer.
ThatOther standard markers of
cell proliferation
commonly used.
Are
observedMore than 400
mitochondrial genes,
that participates on
this process
7. New genetic test for predicting cancer
recurrence
The team used in the survival analysis multiples curves of Kaplan- Meier
(that is a survival function of a certain population, that in medicine is
used to measure the fraction of patients still alive time ago after a
treatment) to extrapolate the correlation of the quantity of
mitochondrial genes and the metastasis in patients with cancer.
Some genes predicted up to 5 times more higher recurrence rates. A
biomarker particularly useful, HSPD1, is associated with the
mitochondrial biogenesis, that is, the process of creation of new ones.
The use of this mitochondrial biomarkers allows to the doctors to predict
with more precision that the patients will respond poorly to the
pharmacological treatment. The investigators are talking about
tamoxifen, that is used to prevent the sickness progress on a specific
patient’s population with breast cancer.
8. New genetic test for predicting cancer
recurrence
Thanks to this new prove that is giving the possibility to the
doctors of predicts when a treatment will fail, allows them to
take more positive options, that can be a closer monitoring of
the patient to an alternative treatment.
The saldford investigation team describe that cancerous cells
use the mitochondrial energy to resist to medicines like the
tamoxifen. Is estimated that two-third parts of the cancer
deaths are because the metastasis after the initial treatment.
This progress, is not only a prove where they discover the use
of mitochondria like biomarkers, but also like diana (no se que
es buscar) potentials of drugs. Because the new mitochondria’s
generation can be controlled by new therapies to prevent more
effectively the failure of the treatment.
9. New genetic test for predicting cancer
recurrence
Personal comment
This type of advances, which give medicine tools
not only in terms of knowledge of the mechanism
of the disease and the factors associated with its
recidivism, but also in possible attempts to treat
pathologies in which there is still uncertainty
about effectiveness current therapeutic
alternatives, such as cancer; demonstrate the
importance of correlation with other areas of
science, in this particular case, with genetics,
which provides the basis for understanding the
problems related to the transmission of hereditary
characters, which is increasingly being tested plus
its importance in the understanding of the
pathological process.
10. Genome editing reveals role of gene
important for human embryo development
For the execution of this project, genome editing techniques were used, in
order to avoid the production of the OCT4 protein by blocking a gene.
This protein is activated in the first days of development of the human
embryo, which is necessary for proper formation of the blastocyst,
(shown the results of this study). 7 days after fertilization. The result of
how fundamental the gene for the development of the embryo
In this research, Dr. Kathy Niakan of the Francis Crick Institute, who led
the project, says that in order to discover what the gene in the embryo
does, it is necessary to observe what events take place when it is not
present, since if it were known the key genes that embryos need to
develop successfully, IVF (in vitro fertilization) treatments could be
improved and understanding the causes of pregnancy failure; hence the
transcendental of this study, because it is the one that will give the
foundations
11. Genome editing reveals role of gene
important for human embryo development
During the realization of this investigative process, in the
beginning, it worked with mouse embryos and human
embryonic stem cells for a year, before starting to work on
human embryos. The method used to inactivate OCT4 was an
editing technique called CRISPR / Cas9, with the aim of
changing the DNA of 41 human embryos. After this, seven days
had to wait, at which time the embryonic development was
stopped and the embryos were analyzed.
In the research, the origin of the embryos used in the study is
clarified; these were donated by couples who had undergone
FIV treatment, with frozen embryos remaining in storage
and also had a research license
Another reason for the importance of OCT4 that
was mentioned in the study is its relevance in the
biology of stem cells, which are "pluripotent" (ie
they can become any other type of cell)
12. Genome editing reveals role of gene
important for human embryo development
Con el resultado de este proyecto de investigación está
proporcionando una nueva comprensión de los genes responsables
de un cambio crucial cuando los grupos de células en el embrión
muy temprano se organizan y se establecen en diferentes caminos
de desarrollo.
Dr. James Turner, co-author of the study of the Francis Crick
Institute, mentions during the research process that although
technology is available for the creation of pluripotent stem cells,
it is not yet understood exactly how they work, thus future
studies should be directed to elucidate what different genes cause
that cells to become and remain pluripotent. This will lead us to
the production of stem cells with greater reliability
With the result of this research is providing a new understanding
of the genes responsible for a crucial change when groups of cells
in the early embryo are organized and established in different
paths of development.
13. Genome editing reveals role of gene
important for human embryo development
That study will aid significantly aid to
the treatment of infertile couples as it
helps in identifying the factors that are
essential to ensure that human embryos
can be born and lead a healthy life
This research, moreover, represents a
relevant step in the understanding of
human embryonic development. New
treatments against developmental
disorders and could also help to
understand diseases of adults such as
diabetes that can originate during the
early stage of life
14. Genome editing reveals role of gene
important for human embryo development
Genetic research in humans is the starting point of
medicine in the approach of new alternatives for the
resolution of existing crossroads regarding some process
that is still enigmatic, as the case, a treatment that is not
currently resolved or of a pathology of which its
mechanism of action is not known. The genetic studies
give the starting elements to guide all the technologies
that are currently in the search of alternatives that allow
to solve that which threatens the health and life of the
human being.
15. Medical utility
Genetics has an absolutely transcendental role in medicine since a large
number of pathologies in humans are associated with a strong genetic
component; that, as advances are made in this field, the influence of genes in
increasing amounts of disorders is increasingly demonstrated. Hence it is of
vital importance knowledge the study of genetics in medicine, as it gives tools
to understand the genetic components that originate or influence the
appearance of various diseases
16. Thanks to the information provided by genetics to medicine
when they complement each other, today there are different
types of tests at a molecular level that aims to find genes
associated with the expression of various disorders, also the
search for sequences genomic predisposing to the expression
of these; which is very important, because at present, it is
intended a medical practice that not only focuses on the
treatment of the disease, but on the prevention of it
17. Through genetic studies and
information that contribute to
various pathological mechanisms,
advances can be made in treatment,
through the identification of new
targets for the action of drugs. There
are also attempts at treatment
directly related to genetic
manipulation, such as gene therapy
18. With the completion of the human genome project
(in which the sequence of chemical base pairs that
make up the DNA was determined, the genes of the
human genome were identified and mapped from a
physical and functional point of view). doors of
different advances in medicine based on the new
knowledge of the different genes that make up the
genome; such as the development of new diagnostic
tests, adaptation to a treatment, diagnosis of
diseases associated with the genome, among others.
19. Bibliography
• New genetic test for predicting cancer recurrence. (2017).
ScienceDaily. Retrieved 25 September 2017, from
https://www.sciencedaily.com/releases/2017/09/170921095026.htm
• New genetic test for predicting cancer recurrence. (2017).
ScienceDaily. Retrieved 25 September 2017, from
https://www.sciencedaily.com/releases/2017/09/170921095026.htm
• Jorde, L., Carey, J., & Bamshad, M. Genética Médica.
• MARTINEZ SÁNCHEZ, Lina María. Biología molecular. 8. ed.
Medellín: UPB. Fac. of Medicine, 2015. 109-115 p
20. Science, for me, gives a partial
explanation for life. In so far as it goes,
it is based on fact, experience and
experiment.