Perlstein Lab Deck
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Perlstein Lab aims to develop precision medicines for rare "orphan" diseases through a patient-centered approach. They generate proprietary drug candidates tailored to the specific genetic mutations of each orphan disease patient by leveraging model organisms like yeast, worms, flies and zebrafish that have conserved disease genes. Their platform involves screening mutation-matched models to identify drug leads, optimizing leads, and testing in patient-derived cells with the goal of generating an orphan drug candidate within 18 months to address the unmet need for over 95% of orphan diseases that currently lack approved treatments. They are initially focusing on Lysosomal Storage Diseases caused by over 50 mutations each.
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The document discusses two scientific studies:
1) A study of identical twins which found that DNA rearrangements increased with age and may help explain immune system aging. Larger rearrangements were only in twins over 60, and rearrangements correlated with age.
2) A study linking faulty proteins to ovarian cancer and potential for expanding PARP inhibitor treatments to more patients. Additional defective proteins beyond BRCA may be driving ovarian cancer. This could change ovarian cancer treatment dynamics.
GENETIC MAPPING
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.
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Familial Barrett's esophagus and esophageal adenocarcinoma may have a genetic basis. Studies have found case reports of familial clusters of BE and EAC spanning multiple generations. A pilot study found that first and second degree relatives of BE and EAC patients have higher rates of BE than controls. Segregation analysis supports a model where an incompletely dominant allele contributes to familial BE risk. Linkage analysis has identified potential chromosomal regions linked to BE. Further sequencing is still needed to identify the specific genetic variants involved.
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Genetic mapping
Recombination sequences in DNA may help determine the order of genes on chromosomes. This allows estimation of relative distances between genes and localization of genes. A study genotyped nearly 700,000 markers in the genomes of about 9,000 individuals to identify genes associated with polycystic ovary syndrome (PCOS). The study did not find genes regulating testosterone production in the ovaries, which was previously thought to be a major factor in PCOS. Another study mapped gene activity in the first few days of human embryo development from fertilization to provide insight into the "ignition key" that switches on human development.
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The document discusses two scientific studies:
1) A study of identical twins which found that DNA rearrangements increased with age and may help explain immune system aging. Larger rearrangements were only in twins over 60, and rearrangements correlated with age.
2) A study linking faulty proteins to ovarian cancer and potential for expanding PARP inhibitor treatments to more patients. Additional defective proteins beyond BRCA may be driving ovarian cancer. This could change ovarian cancer treatment dynamics.
GENETIC MAPPING
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.
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Eric J. Vick is a medical student at the University of Tennessee Health Science Center with research interests in innate immunity, immune checkpoint inhibitors, and T cell lymphoma. He received his M.D. from the University of Tennessee Health Science Center in 2018 and his Ph.D. in Molecular Biosciences from Middle Tennessee State University in 2014, where he studied the human inflammatory response to Gardnerella vaginalis. He has published peer-reviewed articles, presented his research at several conferences, and received honors including a Medical Student Research Fellowship.
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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.
Endoscopy in Gastrointestinal Oncology - Slide 2
Familial Barrett's esophagus and esophageal adenocarcinoma may have a genetic basis. Studies have found case reports of familial clusters of BE and EAC spanning multiple generations. A pilot study found that first and second degree relatives of BE and EAC patients have higher rates of BE than controls. Segregation analysis supports a model where an incompletely dominant allele contributes to familial BE risk. Linkage analysis has identified potential chromosomal regions linked to BE. Further sequencing is still needed to identify the specific genetic variants involved.
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The document summarizes two scientific articles from ScienceDaily about recent discoveries related to cell division and DNA replication that could provide new insights into cancer. The first article discusses a discovery of a protein complex called Ska that helps anchor DNA and distribute it correctly as cells divide. Understanding this complex could help develop new anti-cancer drugs. The second article describes an international study that improves ability to predict hereditary cancer risk by better classifying genetic variants associated with Lynch syndrome. This allows more accurate genetic counseling and preventive measures for at-risk families.
Genetic mapping
Recombination sequences in DNA may help determine the order of genes on chromosomes. This allows estimation of relative distances between genes and localization of genes. A study genotyped nearly 700,000 markers in the genomes of about 9,000 individuals to identify genes associated with polycystic ovary syndrome (PCOS). The study did not find genes regulating testosterone production in the ovaries, which was previously thought to be a major factor in PCOS. Another study mapped gene activity in the first few days of human embryo development from fertilization to provide insight into the "ignition key" that switches on human development.
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The document discusses several studies that investigated genetic factors and parental age as risks for autism. One study found higher risks of autism with older paternal age. Another study found higher risks associated with paternal age rather than maternal age. Additional studies identified specific genetic mutations on chromosomes like DDX53-PTCHD1 that were linked to autism. A large study by the Autism Genome Project identified new genes associated with autism risks like SHANK1, SYNGAP1, and DLGAP2. Together the results suggest that both genes and parental age, particularly paternal age, are significant factors that impact the risks of having a child with autism.
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3) The immune system defenses against infection include phagocytes, B-lymphocytes, T-lymphocytes, antibodies, vaccination, and the skin. Differences between bacterial and viral infections are also noted.
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PDF : http://www.germlineexposures.org/uploads/6/4/0/9/6409433/sfn_escher_slides.pdf
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Chromosomes contains the genetic material, it means that when any alteration happens in the number and chromosomes structure can cause genetics illness, for example: ADS, cognition problems or some changes in the genome that can represent a benefit or damage for an individual or a specie like the protection of XX chromosome.
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Central Dogma Of Genetic Information
This document discusses the central dogma of genetics, how DNA is replicated and transcribed into RNA which is then translated into protein. It also discusses how mutated genes can cause cancer and be inherited. Studies found that inherited susceptibility to bowel cancer is common in families with a history of the disease, suggesting wider genetic testing. Retroviruses can integrate their RNA genome into host DNA using reverse transcriptase. Endogenous retroviruses make up about 5% of human DNA and may have played an important role in brain development and function over evolution. Retroviruses could potentially be used in gene therapy applications.
Chimeric Antigen Receptors
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The document discusses two scientific studies:
1) A study that used the CRISPR/Cas9 gene editing system to simultaneously disrupt two target genes in monkey embryos, paving the way for valuable human disease models. Researchers were able to generate mutations in targeted genes without off-target effects.
2) A study showing that activating the tumor suppressor p53 in normal cells causes them to secrete the potent tumor suppressor Par-4, which induces cell death in p53-deficient cancer cells. This suggests a potential approach for preventing therapy resistance in tumors.
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A study found that three genetic mutations are more common in people with esophageal disorders like cancer than the general population, which could help doctors identify those at risk. Esophageal cancer cases have risen 350% in Europe and US since the 1970s. The study analyzed 116 patients and found 13, or 11%, had mutations in three genes linked to esophageal issues, showing a moderate genetic impact. Researchers hope to use the findings to further research diagnostics and risk assessment.
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Gene tests work by designing DNA probes that are complementary to mutated sequences, allowing the probes to bind to and flag any mutations found among an individual's 3 billion DNA base pairs. Tests also compare a patient's gene sequence to a normal version, and can cost hundreds to thousands of dollars depending on gene and mutation sizes. Gene testing has improved lives by aiding diagnosis, treatment decisions, avoiding diseases in potential children, and identifying those at high risk for preventable conditions.
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The human genome project mapped the entire human genetic code and identified approximately 30,000 human genes, providing insights into the genetic basis of diseases and opportunities for new diagnostic tests and treatments. Gene therapy aims to treat diseases by modifying genes, either in vivo by introducing normal genes into patients' cells to replace mutated genes or ex vivo by extracting cells, modifying them genetically, and returning them to patients. While promising, gene therapy faces challenges in safety, delivery methods, and treating complex multi-gene disorders.
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The document discusses several studies that investigated genetic factors and parental age as risks for autism. One study found higher risks of autism with older paternal age. Another study found higher risks associated with paternal age rather than maternal age. Additional studies identified specific genetic mutations on chromosomes like DDX53-PTCHD1 that were linked to autism. A large study by the Autism Genome Project identified new genes associated with autism risks like SHANK1, SYNGAP1, and DLGAP2. Together the results suggest that both genes and parental age, particularly paternal age, are significant factors that impact the risks of having a child with autism.
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The document discusses several topics related to genetics and biology:
1) Mutations can affect gene expression and the amino acid sequence of proteins. Specialization of cells is usually due to differences in gene expression, not genes.
2) Genetic engineering is used to produce novel products by inserting exogenous DNA into bacterial cells to alter their genetics and express new proteins.
3) The immune system defenses against infection include phagocytes, B-lymphocytes, T-lymphocytes, antibodies, vaccination, and the skin. Differences between bacterial and viral infections are also noted.
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The document discusses recent discoveries related to DNA and stem cells that are allowing for new therapeutic approaches to cancer management. Specifically, it discusses how discoveries of the protein MutL, which helps repair DNA errors, and how mutations in genes encoding DNA repair proteins can lead to cancers. It also discusses how researchers have identified a new stem cell signaling pathway that may help lower tumor risks in stem cell therapies by reducing formation of teratomas during stem cell differentiation.
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Sources : http://www.germlineexposures.org/sfn-wonder-feb-2017.html
PDF : http://www.germlineexposures.org/uploads/6/4/0/9/6409433/sfn_escher_slides.pdf
CHROMOSOMES
Chromosomes contains the genetic material, it means that when any alteration happens in the number and chromosomes structure can cause genetics illness, for example: ADS, cognition problems or some changes in the genome that can represent a benefit or damage for an individual or a specie like the protection of XX chromosome.
Background on Mendelian conditions, from ASHG 2014 talk
Introduction and background slides from my ASHG 2014 talk: "Assessment of the success rate of two years of large-scale exome sequencing efforts to identify genes for Mendelian conditions at the University of Washington Center for Mendelian Genomics"
Defines the scope of Mendelian conditions and human genes implicated in Mendelian conditions.
Added in citations for data that did not come from our own analyses.
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This document discusses statistical genetics and the use of statistics in analyzing genetic sequence data. It covers several key areas: the origins of statistical genetics in the work of Fisher, Galton and Pearson; methods for disease gene mapping including linkage analysis and genome-wide association studies; challenges in analyzing sequencing data including rare variant detection and accounting for interactions; and hypotheses for multi-factorial disease etiology including the common disease-common variant and common disease-rare variant hypotheses. It also describes challenges in statistical methodologies for variant classification and handling interactions and proposes a kernel-based adaptive clustering approach.
DNA– REPAIRING PROTEIN MAY BE KEY TO PREVENTING RECURRENCE OF SOME CANCER ...
The document discusses two scientific articles about discoveries related to cancer recurrence and stem cells. The first article describes a DNA-repairing protein that may help prevent cancer recurrence by allowing cancer cells to repair DNA damage from chemotherapy. The second article finds that a retrovirus present in the human genome is active in pluripotent stem cells and could help develop new gene therapy treatments.
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Central Dogma Of Genetic Information
This document discusses the central dogma of genetics, how DNA is replicated and transcribed into RNA which is then translated into protein. It also discusses how mutated genes can cause cancer and be inherited. Studies found that inherited susceptibility to bowel cancer is common in families with a history of the disease, suggesting wider genetic testing. Retroviruses can integrate their RNA genome into host DNA using reverse transcriptase. Endogenous retroviruses make up about 5% of human DNA and may have played an important role in brain development and function over evolution. Retroviruses could potentially be used in gene therapy applications.
Chimeric Antigen Receptors
The document discusses the development of chimeric antigen receptor (CAR) gene therapy for cancer treatment. It describes how early T-cell receptor modification efforts were unsuccessful due to immune rejection, leading to the creation of entirely new CAR receptors. CAR therapy generates antibodies to target antigens on cancer cells. The CAR is constructed through multiple steps and generations have improved effects. CAR therapy activates T-cells to attack cancer cells and has shown promising results in clinical trials.
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This document is a resume for Jing Luo summarizing their qualifications and experience. It outlines over 4 years of experience in areas like mammalian cell cultures, ELISA assays, cellular staining, animal experiments, and PCR. It also details work as a research assistant studying endothelial cell proliferation and as an intern analyzing fat to muscle ratios in mice and conducting pharmaceutical toxicity experiments. The resume lists education including a Master's in Biomedical Engineering and Bachelor's in Biological Science and publications in related journals.
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Michael Chin details the recent news that The Damon Runyon Cancer Research Foundation has named four exceptional researchers as beneficiaries of the prestigious Damon Runyon-Sohn Pediatric Cancer Research Fellowship Award, submitting about $1 million to address a basic lack of subsidizing for pediatric disease research.
Genetic Mapping & its applications in different field of science
Genetic mapping is used to determine the location of genes on chromosomes and the distance between genes. It provides evidence that conditions passed down from parents to children are linked to specific genes. Genetic maps have been used to identify genes responsible for single-gene disorders and complex diseases. Applications of genetic mapping include medical diagnosis and treatment, agriculture, energy/environment, and forensics. While it provides advantages like disease risk assessment and personalized medicine, genetic mapping also has disadvantages such as expense and religious objections.
Folding
The document discusses two scientific studies:
1) A study that used the CRISPR/Cas9 gene editing system to simultaneously disrupt two target genes in monkey embryos, paving the way for valuable human disease models. Researchers were able to generate mutations in targeted genes without off-target effects.
2) A study showing that activating the tumor suppressor p53 in normal cells causes them to secrete the potent tumor suppressor Par-4, which induces cell death in p53-deficient cancer cells. This suggests a potential approach for preventing therapy resistance in tumors.
GENE THERAPY
Gene therapy involves introducing genes into cells to treat or prevent disease. This document discusses using gene therapy to treat cancer by delivering the p53 tumor suppressor gene via an adenovirus vector. The adenovirus binds to receptors on cancer cells and injects the p53 gene into the nucleus. This gene then causes cancer cells to self-destruct without harming normal cells, potentially providing a treatment for cancers like liver cancer, lung cancer, and cancer of the lower lip.
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A study found that three genetic mutations are more common in people with esophageal disorders like cancer than the general population, which could help doctors identify those at risk. Esophageal cancer cases have risen 350% in Europe and US since the 1970s. The study analyzed 116 patients and found 13, or 11%, had mutations in three genes linked to esophageal issues, showing a moderate genetic impact. Researchers hope to use the findings to further research diagnostics and risk assessment.
gene test
Gene tests work by designing DNA probes that are complementary to mutated sequences, allowing the probes to bind to and flag any mutations found among an individual's 3 billion DNA base pairs. Tests also compare a patient's gene sequence to a normal version, and can cost hundreds to thousands of dollars depending on gene and mutation sizes. Gene testing has improved lives by aiding diagnosis, treatment decisions, avoiding diseases in potential children, and identifying those at high risk for preventable conditions.
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Put to the test: as genetic screening gets cheaper and easier, it's raising questions that health-care providers aren't prepared to answer
The American Prospect, November 2010
When my children were born in the mid-1990s, new parents could already see that prenatal genetic testing was altering the terrain of pregnancy and childbirth. Growing numbers of educated women were having children at older ages, with resulting difficulties and risks. More and more parents faced challenging, deeply personal decisions about whether to engage in genetic testing and what to do if they received unfavorable results.
I remember my own anxieties when my wife, Veronica, took a blood test that searched for elevated alpha-fetoproteins, which are associated with diverse ailments ranging from spina bifida to anencephaly. The mere prospect of these rare conditions--and even the choice to undergo the tests--was surprisingly painful. At least genetic counselors and other professionals were available to help guide us.
By that point, amniocentesis had been in wide use for more than t.
Genomics in Society: Genomics, Preventive Medicine, and Society
11.10.06
Guest Lecture to UCSD Medical and Pharmaceutical Students
Foundations of Human Biology--Lecture #41
Title: Genomics in Society: Genomics, Preventive Medicine, and Society
UC San Diego
Early diagnosis and protein identification
This document discusses early genetic testing and protein identification. It describes different types of genetic exams that can be used to diagnose genetic disorders in fetuses and adults. These include tests for newborns, carrier screening, prenatal testing, and predictive testing. The document also discusses how whole exome sequencing and chromosomal microarray analysis can help detect fetal anomalies earlier. Researchers identified a protein called TDP-43 that causes neurological diseases, and inhibiting this protein in mice reversed symptoms. They hope to find FDA-approved drugs that can safely reproduce this effect in humans to develop new therapies. Genetic testing provides information to guide counseling and prevent difficulties in pregnancy.
Put to the test as genetic screening gets cheaper and easier,.docx
Put to the test: as genetic screening gets cheaper and easier, it's raising questions that health-
care providers aren't prepared to answer
The American Prospect, November 2010
When my children were born in the mid-1990s, new parents could already see that prenatal genetic
testing was altering the terrain of pregnancy and childbirth. Growing numbers of educated women were
having children at older ages, with resulting difficulties and risks. More and more parents faced
challenging, deeply personal decisions about whether to engage in genetic testing and what to do if they
received unfavorable results.
I remember my own anxieties when my wife, Veronica, took a blood test that searched for elevated
alpha-fetoproteins, which are associated with diverse ailments ranging from spina bifida to
anencephaly. The mere prospect of these rare conditions--and even the choice to undergo the tests--
was surprisingly painful. At least genetic counselors and other professionals were available to help guide
us.
By that point, amniocentesis had been in wide use for more than two decades. As researchers identified
the genetic markers associated with a growing list of important conditions, educated, secular, and
affluent communities began to embrace genetic testing. A small but lucrative market in assisted
reproductive technologies quickly emerged, which provided parents with greater control over the
genetic characteristics of their offspring. In some parts of America, new diagnostic technologies
provoked unease regarding their eugenic potential.
In retrospect, these innovations were incredibly tame. Technological limits, cost, intrusiveness, and risk
constrained the scope of screening efforts. Roughly one in every 200 amniocenteses resulted in
miscarriage, which made the procedure too risky to justify screening the full population of pregnant
women. The human genome had yet to be sequenced. Newborn screening was routinely used to
identify a handful of important metabolic disorders, but it was a very expensive process. There was a
certain clarity, too. The most common use of amniocentesis was (and remains) to detect conditions
associated with very serious physical or intellectual disabilities. When such conditions were detected,
most parents chose to terminate the pregnancy.
Fast forward to 2010. Prospective parents can now be tested before pregnancy, and those found to be
carriers for serious conditions have the option of in-vitro fertilization, whereby embryos can be pre-
tested for genetic markers associated with Alzheimer's disease, hemophilia, muscular dystrophy, Tay-
Sachs disease, and more. Many of these same markers can also be detected by do-it-yourself genetic-
testing kits, which are beginning to appear on the Internet and on drugstore shelves. Walgreens may
soon sell a cheap home test that covers 37 genetic conditions. (Sales are postponed pending approval by
the Federal Drug Administration.) You will soon ...
Articulo revision surfactantes 2011
This study compared mortality rates in preterm infants with respiratory distress syndrome (RDS) treated with three surfactant preparations - poractant alfa, calfactant, or beractant. Using data from over 14,000 infants treated between 2005-2009, the study found:
1) Calfactant treatment was associated with a 49.6% greater likelihood of death compared to poractant alfa.
2) Beractant treatment showed a non-significant 37% higher mortality risk compared to poractant alfa.
3) There was no significant difference in mortality between calfactant and beractant.
4) Poractant alfa treatment was associated with significantly reduced mortality compared
Ramanathan et al., 2011
This study compared mortality rates in preterm infants with respiratory distress syndrome (RDS) treated with three surfactant preparations - poractant alfa, calfactant, or beractant. Using data from over 14,000 infants treated between 2005-2009, the study found:
1) Calfactant treatment was associated with a 49.6% greater likelihood of death compared to poractant alfa.
2) Beractant treatment showed a non-significant 37% higher mortality risk compared to poractant alfa.
3) There was no significant difference in mortality between calfactant and beractant.
4) Poractant alfa treatment was associated with significantly reduced mortality compared
Goldman04082010
This veterinarian-presented slide show demonstrates biomedical research using research animals benefits humans and other animals as well. In answering the animal "rights" oriented question of the ethics of doing research in living creatures, it instead makes the case that not doing the research is the true unethical position as advancements never made help no creature. Turning away from animals as vessels of biologic understanding is a turn away from enlightenment. Veterinarians who care for patients should understand that without animal-based research there can be no treatments and suffering writ large remains more widespread.
Open Source Pharma /Genomics and clinical practice / Prof Hosur
Genomics is increasingly being used in clinical practice to inform diagnosis and treatment. The document discusses several examples where genomics has identified disease-causing genes and mutations, leading to new treatments. It also describes methods for genome sequencing and variant calling. The author's studies on epilepsy found variants in genes related to brain function in drug-resistant epilepsy patients. A large number of variants were in the 3' UTR, suggesting expression level variations in these genes may cause epilepsy.
MLGG_for_linkedIn
1) Manuel L. Gonzalez-Garay presented research projects at UTHealth from 2009-2015 investigating rare genetic disorders using next-generation sequencing and metabolomics.
2) An experimental design involved whole exome sequencing of 81 healthy volunteers from the Young Presidents' Organization to explore the practical value and challenges of genomic information for healthy individuals.
3) Analysis of the sequencing data and metabolomics profiles identified several disease-causing variants and metabolic deficiencies, demonstrating the potential for precision medicine approaches in volunteers of normal health.
2014 BDSRA Palmer CLN 5 and CLN 6
The Batten Animal Research Network (BARN) is an international collaboration between research groups studying animal models of Batten disease. The groups share resources like cell cultures and animal models, exchange students, visit each other, and plan research together. BARN has developed measures of disease progression in sheep models to test potential drug and gene therapies. Recent work includes developing neuronal cultures from sheep models to study early disease stages, identifying mutations that cause two forms of CLN6 disease and CLN5 disease, and analyzing the neuroinflammatory response over time. Gene therapy trials using AAV vectors are underway in CLN5 and CLN6 sheep models.
Repurposing large datasets for exposomic discovery in disease
This document discusses the need for large-scale studies of environmental exposures (the exposome) analogous to genome-wide association studies (GWAS) to better understand environmental contributions to health and disease. It notes that while genetics research has made great strides with GWAS, understanding of environmental influences lacks comparable methods and data. The author argues that characterizing the exposome through high-throughput methods could discover new environmental factors in phenotypes, as GWAS did for genetics. National Health and Nutrition Examination Survey is presented as a model for collecting comprehensive human exposure data on a large scale.
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Genomics in Society: Genomics, Preventive Medicine, and Society
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More from Ethan Perlstein
The Science of Crowdfunding (v1)
Crowdfunding is a new way for scientists to fund their research projects by raising small donations from many individuals online. The document discusses how a science-specific crowdfunding platform could help scientists in academia raise tax-deductible donations for their work since traditional crowdfunding is not widely used for science. It introduces the Crowd4Discovery platform that allows scientists to create project pages to share their work and collect donations from supporters.
Salon 6.14.13
This document discusses alternative funding models for independent scientists conducting rare disease research, including crowdfunding, venture philanthropy, and patronage. It questions how much basic research on model organisms has facilitated drug discovery for rare diseases. It also examines potential hybrid business models and partnerships that could scale up rare disease drug discovery efforts. Finally, it considers whether patronage could compete with venture capital and government grants in funding rare disease research.
Crowd4Discovery v3
The document discusses a formula for crowdfunding success that involves adding a plus sign and equals sign to $25,000. It then provides statistics on average and median donation amounts as well as funds raised per hour, day, and second. The document also notes that 17% of donors are one degree removed and that 10% of funds come from retweets.
Crowd4Discovery Campaign v1
The document discusses crowdfunding strategies and statistics. It achieved $27,000 per hour and $70,000 per day in donations. The average donation was $64 while the median was $25, with 390 donors who were one degree removed from the creator. Donations increased by 17% with a 10% bonus offered.
Medical genetics 2 of 2
Tay-Sachs disease is an autosomal recessive genetic disorder caused by mutations in the HEXA gene that result in a buildup of lipids in the brain and nervous system. It primarily affects Ashkenazi Jewish populations due to a founder effect, where a single mutation called 1278insTATC reached a high frequency. Studies found no evidence that Tay-Sachs carriers had an advantage against tuberculosis that could explain the high frequency, suggesting it was maintained by genetic drift after an ancient population bottleneck.
Medical genetics 1 of 2
This document discusses Mendelian diseases and gene therapy. It provides an overview of the topic to be covered this week on Mendelian diseases, from identifying the gene to developing therapies. Specific techniques mentioned for locating genes include restriction fragment length polymorphism, linkage analysis, and estimating distance between loci in centimorgans. It notes that while a gene for cystic fibrosis was located to within 1% of the genome, the estimated 15 centimorgans between markers precluded using chromosome walking to identify the gene at that time.
Phage and bacterial genetics precept
Frederick Twort was a British bacteriologist born in 1877 who died in 1950. He is known for discovering bacteriophages, viruses that infect and replicate within bacteria. In 1915, Twort published early observations of the lysis of micrococci by an unknown agent, providing one of the first descriptions of the bacteriophage phenomenon.
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HCL Notes und Domino Lizenzkostenreduzierung in der Welt von DLAU
Webinar Recording: https://www.panagenda.com/webinars/hcl-notes-und-domino-lizenzkostenreduzierung-in-der-welt-von-dlau/
DLAU und die Lizenzen nach dem CCB- und CCX-Modell sind für viele in der HCL-Community seit letztem Jahr ein heißes Thema. Als Notes- oder Domino-Kunde haben Sie vielleicht mit unerwartet hohen Benutzerzahlen und Lizenzgebühren zu kämpfen. Sie fragen sich vielleicht, wie diese neue Art der Lizenzierung funktioniert und welchen Nutzen sie Ihnen bringt. Vor allem wollen Sie sicherlich Ihr Budget einhalten und Kosten sparen, wo immer möglich. Das verstehen wir und wir möchten Ihnen dabei helfen!
Wir erklären Ihnen, wie Sie häufige Konfigurationsprobleme lösen können, die dazu führen können, dass mehr Benutzer gezählt werden als nötig, und wie Sie überflüssige oder ungenutzte Konten identifizieren und entfernen können, um Geld zu sparen. Es gibt auch einige Ansätze, die zu unnötigen Ausgaben führen können, z. B. wenn ein Personendokument anstelle eines Mail-Ins für geteilte Mailboxen verwendet wird. Wir zeigen Ihnen solche Fälle und deren Lösungen. Und natürlich erklären wir Ihnen das neue Lizenzmodell.
Nehmen Sie an diesem Webinar teil, bei dem HCL-Ambassador Marc Thomas und Gastredner Franz Walder Ihnen diese neue Welt näherbringen. Es vermittelt Ihnen die Tools und das Know-how, um den Überblick zu bewahren. Sie werden in der Lage sein, Ihre Kosten durch eine optimierte Domino-Konfiguration zu reduzieren und auch in Zukunft gering zu halten.
Diese Themen werden behandelt
- Reduzierung der Lizenzkosten durch Auffinden und Beheben von Fehlkonfigurationen und überflüssigen Konten
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Presentation of the OECD Artificial Intelligence Review of Germany
Consult the full report at https://www.oecd.org/digital/oecd-artificial-intelligence-review-of-germany-609808d6-en.htm
Building Production Ready Search Pipelines with Spark and Milvus
Spark is the widely used ETL tool for processing, indexing and ingesting data to serving stack for search. Milvus is the production-ready open-source vector database. In this talk we will show how to use Spark to process unstructured data to extract vector representations, and push the vectors to Milvus vector database for search serving.
Why You Should Replace Windows 11 with Nitrux Linux 3.5.0 for enhanced perfor...
The choice of an operating system plays a pivotal role in shaping our computing experience. For decades, Microsoft's Windows has dominated the market, offering a familiar and widely adopted platform for personal and professional use. However, as technological advancements continue to push the boundaries of innovation, alternative operating systems have emerged, challenging the status quo and offering users a fresh perspective on computing.
One such alternative that has garnered significant attention and acclaim is Nitrux Linux 3.5.0, a sleek, powerful, and user-friendly Linux distribution that promises to redefine the way we interact with our devices. With its focus on performance, security, and customization, Nitrux Linux presents a compelling case for those seeking to break free from the constraints of proprietary software and embrace the freedom and flexibility of open-source computing.
Removing Uninteresting Bytes in Software Fuzzing
Imagine a world where software fuzzing, the process of mutating bytes in test seeds to uncover hidden and erroneous program behaviors, becomes faster and more effective. A lot depends on the initial seeds, which can significantly dictate the trajectory of a fuzzing campaign, particularly in terms of how long it takes to uncover interesting behaviour in your code. We introduce DIAR, a technique designed to speedup fuzzing campaigns by pinpointing and eliminating those uninteresting bytes in the seeds. Picture this: instead of wasting valuable resources on meaningless mutations in large, bloated seeds, DIAR removes the unnecessary bytes, streamlining the entire process.
In this work, we equipped AFL, a popular fuzzer, with DIAR and examined two critical Linux libraries -- Libxml's xmllint, a tool for parsing xml documents, and Binutil's readelf, an essential debugging and security analysis command-line tool used to display detailed information about ELF (Executable and Linkable Format). Our preliminary results show that AFL+DIAR does not only discover new paths more quickly but also achieves higher coverage overall. This work thus showcases how starting with lean and optimized seeds can lead to faster, more comprehensive fuzzing campaigns -- and DIAR helps you find such seeds.
- These are slides of the talk given at IEEE International Conference on Software Testing Verification and Validation Workshop, ICSTW 2022.
National Security Agency - NSA mobile device best practices
Threats to mobile devices are more prevalent and increasing in scope and complexity. Users of mobile devices desire to take full advantage of the features
available on those devices, but many of the features provide convenience and capability but sacrifice security. This best practices guide outlines steps the users can take to better protect personal devices and information.
Observability Concepts EVERY Developer Should Know -- DeveloperWeek Europe.pdf
Monitoring and observability aren’t traditionally found in software curriculums and many of us cobble this knowledge together from whatever vendor or ecosystem we were first introduced to and whatever is a part of your current company’s observability stack.
While the dev and ops silo continues to crumble….many organizations still relegate monitoring & observability as the purview of ops, infra and SRE teams. This is a mistake - achieving a highly observable system requires collaboration up and down the stack.
I, a former op, would like to extend an invitation to all application developers to join the observability party will share these foundational concepts to build on:
Driving Business Innovation: Latest Generative AI Advancements & Success Story
Are you ready to revolutionize how you handle data? Join us for a webinar where we’ll bring you up to speed with the latest advancements in Generative AI technology and discover how leveraging FME with tools from giants like Google Gemini, Amazon, and Microsoft OpenAI can supercharge your workflow efficiency.
During the hour, we’ll take you through:
Guest Speaker Segment with Hannah Barrington: Dive into the world of dynamic real estate marketing with Hannah, the Marketing Manager at Workspace Group. Hear firsthand how their team generates engaging descriptions for thousands of office units by integrating diverse data sources—from PDF floorplans to web pages—using FME transformers, like OpenAIVisionConnector and AnthropicVisionConnector. This use case will show you how GenAI can streamline content creation for marketing across the board.
Ollama Use Case: Learn how Scenario Specialist Dmitri Bagh has utilized Ollama within FME to input data, create custom models, and enhance security protocols. This segment will include demos to illustrate the full capabilities of FME in AI-driven processes.
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We’ll wrap up with a live Q&A session where you can engage with our experts on your specific use cases, and learn more about optimizing your data workflows with AI.
This webinar is ideal for professionals seeking to harness the power of AI within their data management systems while ensuring high levels of customization and security. Whether you're a novice or an expert, gain actionable insights and strategies to elevate your data processes. Join us to see how FME and AI can revolutionize how you work with data!
GraphRAG for Life Science to increase LLM accuracy
GraphRAG for life science domain, where you retriever information from biomedical knowledge graphs using LLMs to increase the accuracy and performance of generated answers
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Everything I found interesting about machines behaving intelligently during May 2024
“I’m still / I’m still / Chaining from the Block”
“An Outlook of the Ongoing and Future Relationship between Blockchain Technologies and Process-aware Information Systems.” Invited talk at the joint workshop on Blockchain for Information Systems (BC4IS) and Blockchain for Trusted Data Sharing (B4TDS), co-located with with the 36th International Conference on Advanced Information Systems Engineering (CAiSE), 3 June 2024, Limassol, Cyprus.
Full-RAG: A modern architecture for hyper-personalization
Mike Del Balso, CEO & Co-Founder at Tecton, presents "Full RAG," a novel approach to AI recommendation systems, aiming to push beyond the limitations of traditional models through a deep integration of contextual insights and real-time data, leveraging the Retrieval-Augmented Generation architecture. This talk will outline Full RAG's potential to significantly enhance personalization, address engineering challenges such as data management and model training, and introduce data enrichment with reranking as a key solution. Attendees will gain crucial insights into the importance of hyperpersonalization in AI, the capabilities of Full RAG for advanced personalization, and strategies for managing complex data integrations for deploying cutting-edge AI solutions.
Communications Mining Series - Zero to Hero - Session 1
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Programming Foundation Models with DSPy - Meetup Slides
Prompting language models is hard, while programming language models is easy. In this talk, I will discuss the state-of-the-art framework DSPy for programming foundation models with its powerful optimizers and runtime constraint system.
Infrastructure Challenges in Scaling RAG with Custom AI models
Building Retrieval-Augmented Generation (RAG) systems with open-source and custom AI models is a complex task. This talk explores the challenges in productionizing RAG systems, including retrieval performance, response synthesis, and evaluation. We’ll discuss how to leverage open-source models like text embeddings, language models, and custom fine-tuned models to enhance RAG performance. Additionally, we’ll cover how BentoML can help orchestrate and scale these AI components efficiently, ensuring seamless deployment and management of RAG systems in the cloud.
GraphSummit Singapore | Neo4j Product Vision & Roadmap - Q2 2024
Maruthi Prithivirajan, Head of ASEAN & IN Solution Architecture, Neo4j
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Video Streaming: Then, Now, and in the Future
In his public lecture, Christian Timmerer provides insights into the fascinating history of video streaming, starting from its humble beginnings before YouTube to the groundbreaking technologies that now dominate platforms like Netflix and ORF ON. Timmerer also presents provocative contributions of his own that have significantly influenced the industry. He concludes by looking at future challenges and invites the audience to join in a discussion.
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Perlstein Lab Deck
- 2. Mission Precision medicine for orphan disease patients
- 3. Experience Ethan O. Perlstein, PhD Founder Lewis-Sigler Fellow 2007-2012 Ph.D. in chemical biology 2001-2006 B.A. in sociology 1997-2001 Milestones founded in Dec 2013 located in San Francisco and part of QB3 network affiliated with Janssen Labs
- 4. Problem 95% of orphan diseases have no FDA approved drug.
- 5. Solution Perlstein Lab’s patient-centered approach 1 in 12 people has an orphan disease every orphan disease has a spectrum of mutations PL generates proprietary personalized orphan drug candidates for each mutation
- 6. Market In the US alone there are 30M orphan disease patients. 1,500 diagnosed single-gene diseases 3,000 total single-gene diseases 6,000 genetic diseases
- 7. Leveraging primordial models Danio rerio 70% shared ancestry Drosophila melanogaster 60% shared ancestry Caenorhabditis elegans 38% shared ancestry Saccharomyces cerevisiae 31% shared ancestry Recent advances in DNA sequencing and genome editing enable patient-tailored drug discovery for thousands of conserved orphan disease genes.
- 8. Platform lead optimization safety and efficacy studies in patient-derived cells rapid, scalable growth-based drug screens mutation-matched genome-edited primordial models orphan patient genetic profiles 0 months 3 months 6 months “Lead gen for orphan drug developers” 18 months
- 9. Scaling the platform PL is initially focusing on Lysosomal Storage Diseases, which are estimated to afflict over 1M patients globally, but each LSD is caused by at least 50 different mutations. Tay-Sachs Sialidosis Morquio A Fucosidosis Pompe disease Griscelli Type 3 Chediak-Higashi Mucolipidosis IV Pycnodystostosis Metachromatic leukodystrophy I Globoid cell leukodystrophy Pseudo-Hurler polydystrophy GM2 gangliosidosis Niemann-Pick A/B MPS Type I Griscelli Type 1 MPS Type II Griscelli Type 2 MPS Type IIIa MPS Type IIIb MPS Type IIIc MPS Type IIId MPS Type IVB MPS Type VI Gaucher Type II Ceroid lipofuscinosis 2 Schindler disease Ceroid lipofuscinosis 6 Metachromatic leukodystrophy II Ceroid lipofuscinosis 8 Sandhoff disease Salla disease Gaucher Type 1 MPS Type VII β-Mannosidosis Niemann-Pick Type C Incidence: 1 in 130,000 births Prevalence: 2-3,000 patients # of mutations: > 200 known α-Mannosidosis Fabry disease Cystinosis Ceroid lipofuscinosis 1 Aspartylglucosaminuria Niemann-Pick C Batten disease Wolman disease Primordial disease gene present?
- 10. Team Full time Scientist #1 Scientist #3 CROs Contract Advisors Scientist #2 Linda Avey Cathy Stewart entrepreneurship academic drug discovery Scientist #4 CMOs John Alan Tucker medicinal chemistry Oli Rayner patient advocacy