INBIOMEDvision workshop at MIE2012 - XXIV Conference of the European Federation for Medical informatics. August 26–29, 2012. Pisa, Italy. Presentations: M.A. Mayer, V. López Alonso, N.Shublaq.
Application of Microarray Technology and softcomputing in cancer BiologyCSCJournals
DNA microarray technology has emerged as a boon to the scientific community in understanding the growth and development of life as well as in widening their knowledge in exploring the genetic causes of anomalies occurring in the working of the human body. microarray technology makes biologists be capable of monitoring expression of thousands of genes in a single experiment on a small chip. Extracting useful knowledge and info from these microarray has attracted the attention of many biologists and computer scientists. Knowledge engineering has revolutionalized the way in which the medical data is being looked at. Soft computing is a branch of computer science capable of analyzing complex medical data. Advances in the area of microarray –based expression analysis have led to the promise of cancer diagnosis using new molecular based approaches. Many studies and methodologies have come up which analyszes the gene espression data by using the techniques in data mining such as feature selection, classification, clustering etc. emboiding the soft computing methods for more accuracy. This review is an attempt to look at the recent advances in cancer research with DNA microarray technology , data mining and soft computing techniques.
Sonogenetic Locale Specific Activation of Universal Vectors for Xenobiotics -...Nejc Draganjec
The final goal of the project is to develop “BioBrick” for liposome produced by means of synthetic biology, that
has a construct for disintegration embedded in its membrane. Xenobiotic packaged in a liposome is not part
of pharmacodynamics since it is biologically unavailable. Which makes liposomes interesting candidates for
universal drug delivery vectors. In our case, liposome disintegration is initiated by non-invasive sonic signal
and carried out by a construct of a sensor and an active part embedded in a membrane. Sensor part of a
construct is mechanoreceptor/mechanotransducer which activates protein representing the active part of a
construct. After activation, active part carries out the dissolution of a compartmentalization function by means
of total disintegration of vector or only membrane perforation. After an opening of a vector, previously packed
xenobiotic becomes locally available with a high concentration in locale and thus high effect and low systemic
concentration and thus smaller chance of side effect. This approach is very specific for both, time and space
factors and at the same time has a very broad area of potential biomedical applications. Vector would be, in
a hypothetical scenario of practical use in oncology, first packed with chemotherapeutics/biological drugs,
administered intravenously and then medical staff would have an option of drug activation in specific locations.
Activation is very precise and at the same time offers an option of easy switching among many different
targets, for example between dominant tumor to many potential metastasis. Since location of activation is
not tied to biomarker, but rather takes advantage of other rapidly developing medical technologies, vector
remains universally and directly applicable for any patient and for a broad spectrum of pathologies in fields of
oncology (chemotherapeutics/biological drugs and other payloads, like local immune response enhancers),
autoimmune diseases (local immune suppressors, diabetes), parasitology (malaria drugs and plasmodium
sporozoite), local pathologies (ulcer, trauma healing) . . .
The biotechnology revolution - Background informationXplore Health
This guide provides background information on the current techniques used in biotechnology as well as information on the the ethical, legal and social aspects associated with biotechnology.
Koller Geneve
MODE, LUXE & VINTAGE
MERCREDI 16 NOVEMBRE, 16h
https://www.kollerauktionen.ch/en/genf/g59/mode_-luxe_-vintage-2
MODE, LUXE & VINTAGE
16h, Lot 501 – 806
EXPOSITION
Vendredi 11 au lundi 14 novembre, de 10h à 18h
Palais de l‘Athénée
CATALOGUE EXCLUSIVEMENT SUR INTERNET
CATALOGUE ONLINE
www.kollerauctions.com
Pour tout renseignement:
Koller Genève
Palais de l’Athénée
rue de l’Athénée 2
1205 Genève
tél. +41 22 311 03 85
fax +41 22 810 06 30
geneva@kollerauctions.com
Vêtements haute couture et prêt-à-porter,
bagagerie, objets de maison, maroquinerie et
accessoires homme et femme
Jack D Ryger: World Landmarks Light Up To Honor ParisJack D. Ryger
Jack D Ryger highlights a few of the many landmarks across the globe that have chosen to honor Paris by lighting up in the colors of the French Flag, following the tragic events of 11/13/15.
Kenneth Verlage took up the topic of the transformation of IT through digitization into a product, and of the impact and importance of this change for your organization, technology and innovation work.
Author - Kenneth Verlage
My books- Learning to Go https://gum.co/learn2go & The 30 Goals Challenge for Teachers http://routledge.com/books/details/9780415735346/
Resources http://teacherrebootcamp.com/2015/09/19/pirate/
Memory improvement can be achieved in two ways: 1) by improving the health of your brain, and 2) using memory skills. These are easier to do than you might think, but you have to make the effort.
Application of Microarray Technology and softcomputing in cancer BiologyCSCJournals
DNA microarray technology has emerged as a boon to the scientific community in understanding the growth and development of life as well as in widening their knowledge in exploring the genetic causes of anomalies occurring in the working of the human body. microarray technology makes biologists be capable of monitoring expression of thousands of genes in a single experiment on a small chip. Extracting useful knowledge and info from these microarray has attracted the attention of many biologists and computer scientists. Knowledge engineering has revolutionalized the way in which the medical data is being looked at. Soft computing is a branch of computer science capable of analyzing complex medical data. Advances in the area of microarray –based expression analysis have led to the promise of cancer diagnosis using new molecular based approaches. Many studies and methodologies have come up which analyszes the gene espression data by using the techniques in data mining such as feature selection, classification, clustering etc. emboiding the soft computing methods for more accuracy. This review is an attempt to look at the recent advances in cancer research with DNA microarray technology , data mining and soft computing techniques.
Sonogenetic Locale Specific Activation of Universal Vectors for Xenobiotics -...Nejc Draganjec
The final goal of the project is to develop “BioBrick” for liposome produced by means of synthetic biology, that
has a construct for disintegration embedded in its membrane. Xenobiotic packaged in a liposome is not part
of pharmacodynamics since it is biologically unavailable. Which makes liposomes interesting candidates for
universal drug delivery vectors. In our case, liposome disintegration is initiated by non-invasive sonic signal
and carried out by a construct of a sensor and an active part embedded in a membrane. Sensor part of a
construct is mechanoreceptor/mechanotransducer which activates protein representing the active part of a
construct. After activation, active part carries out the dissolution of a compartmentalization function by means
of total disintegration of vector or only membrane perforation. After an opening of a vector, previously packed
xenobiotic becomes locally available with a high concentration in locale and thus high effect and low systemic
concentration and thus smaller chance of side effect. This approach is very specific for both, time and space
factors and at the same time has a very broad area of potential biomedical applications. Vector would be, in
a hypothetical scenario of practical use in oncology, first packed with chemotherapeutics/biological drugs,
administered intravenously and then medical staff would have an option of drug activation in specific locations.
Activation is very precise and at the same time offers an option of easy switching among many different
targets, for example between dominant tumor to many potential metastasis. Since location of activation is
not tied to biomarker, but rather takes advantage of other rapidly developing medical technologies, vector
remains universally and directly applicable for any patient and for a broad spectrum of pathologies in fields of
oncology (chemotherapeutics/biological drugs and other payloads, like local immune response enhancers),
autoimmune diseases (local immune suppressors, diabetes), parasitology (malaria drugs and plasmodium
sporozoite), local pathologies (ulcer, trauma healing) . . .
The biotechnology revolution - Background informationXplore Health
This guide provides background information on the current techniques used in biotechnology as well as information on the the ethical, legal and social aspects associated with biotechnology.
Koller Geneve
MODE, LUXE & VINTAGE
MERCREDI 16 NOVEMBRE, 16h
https://www.kollerauktionen.ch/en/genf/g59/mode_-luxe_-vintage-2
MODE, LUXE & VINTAGE
16h, Lot 501 – 806
EXPOSITION
Vendredi 11 au lundi 14 novembre, de 10h à 18h
Palais de l‘Athénée
CATALOGUE EXCLUSIVEMENT SUR INTERNET
CATALOGUE ONLINE
www.kollerauctions.com
Pour tout renseignement:
Koller Genève
Palais de l’Athénée
rue de l’Athénée 2
1205 Genève
tél. +41 22 311 03 85
fax +41 22 810 06 30
geneva@kollerauctions.com
Vêtements haute couture et prêt-à-porter,
bagagerie, objets de maison, maroquinerie et
accessoires homme et femme
Jack D Ryger: World Landmarks Light Up To Honor ParisJack D. Ryger
Jack D Ryger highlights a few of the many landmarks across the globe that have chosen to honor Paris by lighting up in the colors of the French Flag, following the tragic events of 11/13/15.
Kenneth Verlage took up the topic of the transformation of IT through digitization into a product, and of the impact and importance of this change for your organization, technology and innovation work.
Author - Kenneth Verlage
My books- Learning to Go https://gum.co/learn2go & The 30 Goals Challenge for Teachers http://routledge.com/books/details/9780415735346/
Resources http://teacherrebootcamp.com/2015/09/19/pirate/
Memory improvement can be achieved in two ways: 1) by improving the health of your brain, and 2) using memory skills. These are easier to do than you might think, but you have to make the effort.
Cannes Lions 2015 - communication trends spotted among this year winners. Among trends: comeback of an old good ambient, virtual reality, make tech human, empowering women, perfect imperfections and others.
20 Ways to Supercharge Your Micro Moments with Your Holiday ShopperLogo Design Guru
Is there a future in micro moments for e-commerce businesses? There sure is! At the moment there are 2.1 billion smart phone users world wide. Among these are the ones who use their phones for learning and buying. This holiday season you need to tap onto these customers who want instant solutions.
This presentation on 20 ways to supercharge your micro moments with your holiday shoppers are tried and tested. They're proven ways that'll help you garner new customers and boost sales. Discover how online retail brands used these tips to improve their return on investment.
Uses of Artificial Intelligence in BioinformaticsPragya Pai
This presentation is about the usage of Artificial Intelligence in Bioinformatics. These slides give the basic knowledge about usage of Artificial Intelligence in Bioinformatics.
Comic-Con 2016 - Beyond Human: The Rise Of Machine Intelligence #SDCCDanny Sullivan
We've finally entered the world of HAL, where voice activated services like Siri, Cortana and Alexa attempt to cater to our needs. Within a few decades, synthetic "brains" will be able to execute 100 trillion instructions per second--an activity level that rivals the human brain. That brings the prospect of helpful servants like Cerebro and Lieutenant Commander Data--or perhaps malevolent entities like Brainiac and Skynet. Our panelists will discuss the A.I. capabilities soon to arrive and the opportunities and threats they will bring to humanity. Speakers include Greg Corrado (Senior Research Scientist, Google), Lucas Ives (Engineering Lead, PullString Inc.), Brandon Wirtz (CEO and founder, Recognant), Sarah Austin (CEO and founder, Peak Energies), Nigel Duffy (CTO, Sentient Technologies), and moderator Danny Sullivan (founding Editor of Search Engine Land). Room 25ABC
This presentation explores health and well-being on the social web. Included are artwork, screenshots and translations.. This is a working draft and will be presented in late 2016. Your comments are welcome and so are embeds, likes, clips and shares.
- Ron Mader
Twitter: @ronmader
Wiki
http://planeta.wikispaces.com/health
Bioinformatics is a hybrid science that links biological data with techniques for information storage, distribution, and analysis to support multiple areas of scientific research, including biomedicine.
this presentation is about bioinformatics. the contents of bioinformatics are as under:
1.Introduction to bioinformatics.
2.Why bioinformatics is necessary?
3.Goals of bioinformatics
4.Field of bioinformatics
5.Where bioinformatics help?
6.Applications of bioinformatics
7.Software and tools of bioinformatics
8.References
In June this year, Prof Martin-Sanchez traveled to Heidelberg, Germany to represent HBIR and University of Melbourne participating in a three day scientific symposium "Biomedical Informatics: Confluence of Multiple Disciplines”.
These are the slides from the presentation he gave to the symposium.
IRIDA's Genomic epidemiology application ontology for data standardization, integration and sharing. Presented at IMMEM XI in Estoril, Portugal, March 11 2016.
Drugs Discovery and Development from Microbial Genome.pptxLunjapikai Haokip
Microbes have made a phenomenal contribution to the health and well-being of people throughout the world. In addition to producing many primary metabolites, such as amino acids, vitamins and nucleotides, they are capable of making secondary metabolites, which constitute half of the pharmaceuticals on the market today and provide agriculture with many essential products. This review centers on these beneficial secondary metabolites, the discovery of which goes back 80 years to the time when penicillin was discovered by Alexander Fleming.
As an interdisciplinary field of science, bioinformatics combines biology, computer science, information engineering, mathematics and statistics to analyze and interpret the biological data.
Bioinformatics in the Clinical Pipeline: Contribution in Genomic Medicineiosrjce
In this review report we like to focus on the new challenges in methodology of modern biology be
used in medical science. Today human health is a primary issue to cure disease, undoubtedly the answer to this
is bioinformatics or (In-silco) tools has change the concept of treating patients to understand the need of
genomic medicine in use. Those with new modes of action in clinical treatment, is a major health concern in
medical science. On global prospective scientific role in constructing new ideas to remediate health care to
treat disease exciting in nature is challenging task. So awareness needs to accelerate store clinical datasets for
scientific represents to design genomic drugs. This new outline will drive the medical to discover public data
and create a cognitive approach to use technology cheaper at cost effective mode.
Dr. Leroy Hood lectured to a group of Ohio State University College of Medicine students and faculty on May 13, 2010 in advance of an announcement of a partnership between the Ohio State University Medical Center and the Institute for Systems Biology. The partnership will be known as
A radiology report serves as an intermediary between a radiologist and referring clinician for suggesting
appropriate treatment to the patients, aimed at better healthcare management. It is essentially a tool
that assists radiologists in conveying their input to the patients and clinicians regarding positive or negative findings on a case. The objective of this paper is to discuss and propose Radiology Information & Reporting System (RIRS), highlight challenges governing its implementation and suggest way forwards
towards its effective implementation across the public sector tertiary care institutions of Pakistan. In the end, it is concluded that the proposed RIRS would potentially offer enormous benefits in terms of cost
savings, reporting accuracy, faster processing and operational efficiency as opposed to the conventionally available manual radiology reporting procedures and systems.
These lecture slides, by Dr Sidra Arshad, offer a quick overview of physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar leads (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
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The prostate is an exocrine gland of the male mammalian reproductive system
It is a walnut-sized gland that forms part of the male reproductive system and is located in front of the rectum and just below the urinary bladder
Function is to store and secrete a clear, slightly alkaline fluid that constitutes 10-30% of the volume of the seminal fluid that along with the spermatozoa, constitutes semen
A healthy human prostate measures (4cm-vertical, by 3cm-horizontal, 2cm ant-post ).
It surrounds the urethra just below the urinary bladder. It has anterior, median, posterior and two lateral lobes
It’s work is regulated by androgens which are responsible for male sex characteristics
Generalised disease of the prostate due to hormonal derangement which leads to non malignant enlargement of the gland (increase in the number of epithelial cells and stromal tissue)to cause compression of the urethra leading to symptoms (LUTS
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
Dr. Vidisha Kumari, a leading epidemiologist in Bangalore, emphasizes the importance of getting vaccinated. "The flu vaccine is our best defense against the influenza virus. It not only protects individuals but also helps prevent the spread of the virus in our communities," he says.
This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
To encourage widespread vaccination, the government is also collaborating with local schools, workplaces, and community centers to facilitate vaccination drives. Special attention is being given to ensuring that the vaccine is accessible to all, including marginalized communities who may have limited access to healthcare.
Residents are reminded that the flu vaccine is safe and effective. Common side effects are mild and may include soreness at the injection site, mild fever, or muscle aches. These side effects are generally short-lived and far less severe than the flu itself.
Healthcare providers are also stressing the importance of continuing COVID-19 precautions. Wearing masks, practicing good hand hygiene, and maintaining social distancing are still crucial, especially in crowded places.
Protect yourself and your loved ones by getting vaccinated. Together, we can help keep Bangalore healthy and safe this flu season. For more information on vaccination centers and schedules, residents can visit the Karnataka Health Department’s official website or follow their social media pages.
Stay informed, stay safe, and get your flu shot today!
Acute scrotum is a general term referring to an emergency condition affecting the contents or the wall of the scrotum.
There are a number of conditions that present acutely, predominantly with pain and/or swelling
A careful and detailed history and examination, and in some cases, investigations allow differentiation between these diagnoses. A prompt diagnosis is essential as the patient may require urgent surgical intervention
Testicular torsion refers to twisting of the spermatic cord, causing ischaemia of the testicle.
Testicular torsion results from inadequate fixation of the testis to the tunica vaginalis producing ischemia from reduced arterial inflow and venous outflow obstruction.
The prevalence of testicular torsion in adult patients hospitalized with acute scrotal pain is approximately 25 to 50 percent
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
New Drug Discovery and Development .....NEHA GUPTA
The "New Drug Discovery and Development" process involves the identification, design, testing, and manufacturing of novel pharmaceutical compounds with the aim of introducing new and improved treatments for various medical conditions. This comprehensive endeavor encompasses various stages, including target identification, preclinical studies, clinical trials, regulatory approval, and post-market surveillance. It involves multidisciplinary collaboration among scientists, researchers, clinicians, regulatory experts, and pharmaceutical companies to bring innovative therapies to market and address unmet medical needs.
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...VarunMahajani
Disruption of blood supply to lung alveoli due to blockage of one or more pulmonary blood vessels is called as Pulmonary thromboembolism. In this presentation we will discuss its causes, types and its management in depth.
New Directions in Targeted Therapeutic Approaches for Older Adults With Mantl...i3 Health
i3 Health is pleased to make the speaker slides from this activity available for use as a non-accredited self-study or teaching resource.
This slide deck presented by Dr. Kami Maddocks, Professor-Clinical in the Division of Hematology and
Associate Division Director for Ambulatory Operations
The Ohio State University Comprehensive Cancer Center, will provide insight into new directions in targeted therapeutic approaches for older adults with mantle cell lymphoma.
STATEMENT OF NEED
Mantle cell lymphoma (MCL) is a rare, aggressive B-cell non-Hodgkin lymphoma (NHL) accounting for 5% to 7% of all lymphomas. Its prognosis ranges from indolent disease that does not require treatment for years to very aggressive disease, which is associated with poor survival (Silkenstedt et al, 2021). Typically, MCL is diagnosed at advanced stage and in older patients who cannot tolerate intensive therapy (NCCN, 2022). Although recent advances have slightly increased remission rates, recurrence and relapse remain very common, leading to a median overall survival between 3 and 6 years (LLS, 2021). Though there are several effective options, progress is still needed towards establishing an accepted frontline approach for MCL (Castellino et al, 2022). Treatment selection and management of MCL are complicated by the heterogeneity of prognosis, advanced age and comorbidities of patients, and lack of an established standard approach for treatment, making it vital that clinicians be familiar with the latest research and advances in this area. In this activity chaired by Michael Wang, MD, Professor in the Department of Lymphoma & Myeloma at MD Anderson Cancer Center, expert faculty will discuss prognostic factors informing treatment, the promising results of recent trials in new therapeutic approaches, and the implications of treatment resistance in therapeutic selection for MCL.
Target Audience
Hematology/oncology fellows, attending faculty, and other health care professionals involved in the treatment of patients with mantle cell lymphoma (MCL).
Learning Objectives
1.) Identify clinical and biological prognostic factors that can guide treatment decision making for older adults with MCL
2.) Evaluate emerging data on targeted therapeutic approaches for treatment-naive and relapsed/refractory MCL and their applicability to older adults
3.) Assess mechanisms of resistance to targeted therapies for MCL and their implications for treatment selection
New Directions in Targeted Therapeutic Approaches for Older Adults With Mantl...
"Bridging the Gap between Bioinformatics and Medical Informatics"
1. Bridging the gap between
Bioinformatics and Medical
Informatics
INBIOMEDvision
http://www.inbiomedvision.eu/ Workshop MIE 2012
2nd Consortium Meeting, Barcelona 16th May, 2011
2. MIE 2012 Workshop :
Why defining the Biomedical Informatics Field is so important
Dr Miguel Angel Mayer
Pompeu Fabra University – FIMIM
Joint Research Programme on Biomedical Informatics (GRIB)
Prospective analysis on Biomedical Informatics enabling
personalised medicine
Dra Victoria López-Alonso
Institute of Health Carlos III
Medical Bioinformatics Department
Personalised medicine: a legacy of promises without delivery –
can we get it right today?
Dra Nour Shublaq
University College London
Centre for Computational Science
2nd Consortium Meeting, Barcelona 16th May, 2011
3. INBIOMEDvision: Promoting & monitoring BMI in Europe
Partners:
Universitat Pompeu Fabra (Coordination)
Fundació IMIM (Managing)
Danish Technical University
Erasmus University Medical Center
Universidad Politecnica de Madrid
Instituto de Salud Calos III
University College London
• + 40 additional experts participants
• Overseas scientific advisory board
http://www.inbiomedvision.eu/
2nd Consortium Meeting, Barcelona 16th May, 2011
4. INBIOMEDvision: Promoting & monitoring BMI in Europe
INBIOMEDvision provides overviews on the state-of-the-art, methods and
models that connect biological systems described at the molecular level
with clinical physiopathology and compiles the existing knowledge on
genotype-phenotype data resources.
http://www.inbiomedvision.eu/
2nd Consortium Meeting, Barcelona 16th May, 2011
5. Operational Objectives INBIOMEDvision
To consolidate a BMI community of
researchers by congregating and
promoting the interaction between
scientists from a wide range of
related fields.
To develop and facilitate training
activities promoting new generations
of scientists and professionals having
the BMI perspective.
To widely disseminate the BMI
knowledge and resources.
2nd Consortium Meeting, Barcelona 16th May, 2011
6. Community building
activities
Researcher Directory
Consolidation of a Biomedical Informatics
Community
Training Activities – Training Challenge
To promote cross-talk between disciplines
to tackle a specific case study, by
engagement of complementary expertise
Scientific Events
To provide and facilitate interaction and
collaboration between EU & international
researchers from different related
disciplines
2nd Consortium Meeting, Barcelona 16th May, 2011
7. Think Tanks – Reports &
Summary and international experts, leaders in their own fields,
Different European
participated in three Think Tanks, in order to identify opportunities for future
collaborative work, and making recommendations for the wider scientific
community.
2nd Consortium Meeting, Barcelona 16th May, 2011
8. MIE 2012 Workshop :
Why defining the Biomedical Informatics Field is so important
Dr Miguel Angel Mayer
Pompeu Fabra University – FIMIM
Joint Research Programme on Biomedical Informatics (GRIB)
Prospective analysis on Biomedical Informatics enabling
personalised medicine
Dra Victoria López-Alonso
Institute of Health Carlos III
Medical Bioinformatics Department
Personalised medicine: a legacy of promises without delivery –
can we get it right today?
Dra Nour Shublaq
University College London
Centre for Computational Science
2nd Consortium Meeting, Barcelona 16th May, 2011
9. Prospective analysis on
Biomedical Informatics
enabling personalised medicine
Victoria López Alonso PhD
Bioinformátics Unit
Instituto de Salud Carlos III
Spain
Workshop INBIOMEDvision, MIE 2012
2nd Consortium Meeting, Barcelona 16th May, 2011
10. Overview
Personalised medicine
Biomedical Informatics (BMI) enabling personalised
medicine:
2nd Consortium Meeting, Barcelona 16th May, 2011
11. Personalised medicine in current practice
Chemotherapy
medications trastuzumab Incidence of adverse events for drugs
and Imatinib Abacavir, Carbamazepine and Clozapine
(Dettling et al., 2007; Ferrell and McLeod, 2008).
(Gambacorti-Passerini, 2008;
Hudis, 2007)
Targeted pharmacogenetic dosing algorithm is used for
warfarin (International Warfarin Pharmacogenetics Consortium et al., 2009)
2nd Consortium Meeting, Barcelona 16th May, 2011
12. Personalised medicine and BMI
Advancing biomedical research requires an overlap of
genomic and clinical research.
The assimilation of information at the molecular, cellular,
tissue, organ, and personal level leads to the development of
innovative BMI tools and technologies.
High throughput biological
measurements
Information Personalised Medicine
DNA, RNA, proteins, small molecules, and lipids
Diagnosis
Genomics Individual genomics (SNPs, CNVs…), Functional genomics,
Disease Reclassification
Proteomics…
Pharmacogenomics
BIOMEDICAL INFORMATICS
patients, diseases, symptoms, laboratory tests, pathology
Clinical reports, clinical images, and drugs…
Population-based health data
&EHR
2nd Consortium Meeting, Barcelona 16th May, 2011
13. Powerful Network of data resources
Data sources coupled with clinical decision support
systems(CDS), should become readily available at the bedside to
support informed decision making and to improve patient safety.
Clinical Bioinformatics Molecular & Clinical
Electronic Medical Records Databases
Genbank, Pubmed,
Standards for: GEO, PDB
Diseases: UMLS, MESH, UCSC, Ensembl
SNOMED… Human Genome
Adverse events: MedDRA Nomenclature
Drugs: RXNorm Veterans Committee
Affairs National Drug … HumanCyc and KEGG, The Adverse Event
Reference Laboratory tests: Reactome… Reporting System (AERS)
LOINC…
Health information: HL 7, The Standards:
Anatomical Therapeutic Gene Ontology…
Networkclassification…resources
Chemical of data
2nd Consortium Meeting, Barcelona 16th May, 2011
14. BMI for Health-Related Genomics
Bentley D. “Genomes for Medicine”. (2004). Nature Insight 429, p440-446
2nd Consortium Meeting, Barcelona 16th May, 2011
15. Personalised medicine in current practice
Today patient´s genetics are consulted only for few diagnoses
and treatments and only in certain medical centers
(cystic fibrosis , breast cancer)
Clinical assessment incorporating a personal genome.
Ashley et al. Lancet (2010)
They assessed his risk for common diseases and his response to hundred of drugs based on
information about the presence of certain genetic alleles
2nd Consortium Meeting, Barcelona 16th May, 2011
16. BMI for Health-Related Genomics
The ability to measure human genetic information creates
opportunities for translational bioinformatics.
Sequence of entire genomes and exomes, measures of
genetic variations…
1,63 millionSNPs shared by twins that
differ from reference human genome
9,531 Variants that code
for proteins
4,605 Variants that
change aa seq
77 Rare variants
3 Candidate genes
BMI structure to
1 gen linked to disorder
store and process
genomic data
2nd Consortium Meeting, Barcelona 16th May, 2011
17. BMI for Health-Related Genomics
Evaluation of biomarkers for
Molecular Diagnostics and
Prognosis
Diagnostic classifiers that
can identify subclasses of
disease with different
prognoses or therapeutic
sensitivities. (i.e. expression
data clustering).
2nd Consortium Meeting, Barcelona 16th May, 2011
18. BMI for Health-Related Genomics
Evaluation of biomarkers for
Molecular Diagnostics and
Prognostics
Genome wide association studies
(GWAS) for discovering genetic
association between a disease and
a biomarker (case-control design).
The most basic analyses include
characterizing cellular populations
and clustering them on the basis
of similar profiles.
It is important to collect data on
exposure to potential non-genetic
(environmental) risk factors.
2nd Consortium Meeting, Barcelona 16th May, 2011
19. BMI for Health-Related Genomics
The Wellcome Trust Consortium published a landmark paper: 14,000 cases & 3,000
controls in a GWAS analysis of seven common diseases using 500,000 SNPs.
They found 24 independent associations, and made the data available for the
development of additional methods for GWAS analysis
2nd Consortium Meeting, Barcelona 16th May, 2011
20. BMI for Health-Related Genomics
Model Selection Methods have
been successful with disease and trait
GWAS studies using selection
techniques to choose multifactorial
models that balance the false positive
rate, statistical power and
computational requirements of the
search
Dimensionality reduction methods
•Principal Components Analysis
•Information Gain
•Multifactor Dimensionality Reduction
(ie. hypertension and familial amyloid polyneuropathy
type I)
Ritchie and Monsimger, 2010
2nd Consortium Meeting, Barcelona 16th May, 2011
21. BMI for Health-Related Genomics
Methods to be able
20 million of references to extract
Literature mining could in natural lenguage information from
be used to create a set natural text and
represent it formally
of candidate genes: in databases that
methods that use allow automated
search, indexing and
sentence syntax and inference
natural language
processing to establish
the link between
molecular and clinical
entities and derive
drug-gene and gene-
gene interactions from
scientific literature.
2nd Consortium Meeting, Barcelona 16th May, 2011
22. Informatics for Health-Related Genomics
A key obstacle in the use of genome data for decision
making in the clinic is the billions of features that are
contained in a single human genome.
Difficulty to discriminate between ‘causal’ variation that has
predictive value in the clinic and the substantial amount of
‘passenger’ variation that travels along in an uncorrelated
manner.
Systems-level analyses can drastically reduce the
combinatorial problem:
• grouping individual genetic variants that affect the same
molecular machinery
•turning EHR data into valuable clinical markers relative to
gene approaches
2nd Consortium Meeting, Barcelona 16th May, 2011
23. BMI for Network-based decision support
Systems biology and network approaches: integration of
molecular data at multiple levels (genomes, transcriptomes,
metabolomes, proteomes and functional and regulatory
networks
2nd Consortium Meeting, Barcelona 16th May, 2011
24. BMI for Network-based decision support
Systems medicine: characterizing disease states at the molecular
level.
Systems pharmacology: network of molecules that interact with
one another and with drugs. “The network is the target”
•Disease-Gene Networks
•Chemical structures, Diseases and
Protein sequences
•Epigenetic data and Drug Phenotypes
•Pathways and Gene sets
2nd Consortium Meeting, Barcelona 16th May, 2011
25. BMI for Network-based decision support
Recent work has focused on
networks for human metabolism,
cancer, and stem cells. Combining
“top down” use of text and
“bottom up” use of genomic
information.
Diseases are clustered based on
shared associated genes
(comobidities).
Temporal aspects of phenotypes
Network of human diseases and the associated genes
from the Online Mendelian Inheritance in Man resource Goh et al., 2007
2nd Consortium Meeting, Barcelona 16th May, 2011
26. BMI for use of EHR and other clinical information
Mining electronic health records using statistical, machine-
learning text mining and computational data-mining
methods for :
Genotype-phenotype mapping
Disease comorbidities
Patient stratification
Drug interactions
Clinical outcomes
2nd Consortium Meeting, Barcelona 16th May, 2011
27. BMI for use of EHR and other clinical information
EHR-based phenotyping in genetic
discovery is feasible and much
less expensive than specially
created study cohorts to :
replicate the GWAS results
generation of clinically actionable
knowledge that can inform the
tailoring of treatments
partly automate the process of
recruiting patients for clinical trials
and case-control studies (health-care-
sector data is linked with biobanks
and genetic data).
2nd Consortium Meeting, Barcelona 16th May, 2011
28. BMI for use of EHR and other clinical information
BioBank system at Vanderbilt
Linking EHR data to biobanked
blood samples have been collected
during routine clinical care by the
Vanderbilt University.
Phenome-wide association study
(PheWAS) checks individual SNPs
RTI International with NHGRI
for statistical association against
hundreds of disease phenotypes of
patients to better understand the www.phenx.org/
clinical responses to diseases and
therapies.
2nd Consortium Meeting, Barcelona 16th May, 2011
29. BMI for use of EHR and other clinical information
Mining electronic health records
Disease comorbidities:
Correlating clinical
features or disease co-
occurrence (Charlson
index) to interpret
confounding effects of
diseases in cohort studies
Patient Stratification:
using clustering methods
and semantic similarity
metrics
Peter et al., 2012
2nd Consortium Meeting, Barcelona 16th May, 2011
30. BMI for mining of EHR and other clinical information
Drug interactions and clinical outcome.
Pharmacogenomics: Drug efficacy is influenced by genetic variation.
The detailed patient profile that can be assembled from EHR data enables
drug exposure profiles to be correlated with treatment outcome measures,
efficacy and toxicity.
Prediction of drug-gen interactions using text extraction relationships
contained in EHR, PubMed, US Food and Drug Administration (FDA) data …
Dose response to the anticoagulant warfarin affected by at least three genetic variants
2nd Consortium Meeting, Barcelona 16th May, 2011
31. BMI for use of EHR and other clinical information
Predictive clinical outcomes
EHR data mining and conventional epidemiology on registry data provide the
basis for predicting patient outcomes using machine-learning methods
(surgery outcome, breast cancer survival and coronary heart disease risk from
variables such as age, sex, smoking status, hypertension and various
biomarkers).
Establishing patterns of directionality in comorbidity and disease progression
is a first step .
2nd Consortium Meeting, Barcelona 16th May, 2011
32. Limiting factors (key problems to overcome)
Restriction on access to existing data
to make data available to researchers (patient
databases: Kaiser RPGEH, Million Veterans Program,
PatientsLikeMe…)
Privacy, autonomy and consent is required.
to de-identify research data according to specifications
(Health Insurance Portability and Accountability Act
(HIPAA) privacy rule)
Interoperability across institutions, countries and continents
Biomedical standards (CEN–ISO 13606, HL7, SNOMED CT)
and Web standards
Integrative international Centers as “Informatics for
integrating biology and the bedside system (i2b2)”
Cloud computing
By addressing the challenges outlined in this review, BMI will
create the tools to tailor medical care to each individual genome.
2nd Consortium Meeting, Barcelona 16th May, 2011
This talk outlines recent developments in sequencing technologies and genome analysis methods for application in personalized medicine. New methods are needed in four areas to realize the potential of personalized medicine: (i) processing large scale robust genomic data; (ii) interpreting the functional effect and the impact of genomic variation; (iii) integrating systems data to relate complex genetic interactions with phenotypes; and (iv) Translating these discoveries into medical practice.
This talk outlines recent developments in sequencing technologies and genome analysis methods for application in personalized medicine. New methods are needed in four areas to realize the potential of personalized medicine: (i) processing large scale robust genomic data; (ii) interpreting the functional effect and the impact of genomic variation; (iii) integrating systems data to relate complex genetic interactions with phenotypes; and (iv) Translating these discoveries into medical practice.
Goh et al. built a network of human diseases and the associated genes from the Online Mendelian Inheritance in Man resource. They found that cancer genes are more “central” in the network, as are genes that are essential for life. Most drug targets are not central. The regulation of stem cell differentiation is a critical challenge for all of biology but has special implications for our ability to differentiate cells for pharmacologic testing Taking a systems-level view of phenotypes can also shed new light on the temporal aspects of phenotypes ; for example, in explaining how different mutations in the same genes can lead to disorders that are related to different stages of heart development or gut metagenomics data in the context of obesity and inflammatory bowel disease. That being said, it is possible to estimate the degree of genetic overlap between two diseases in an attempt to unravel the molecular basis of comorbidities. An approach to investigate the underlying molecular aetiology of disease correlations is to map the diseases to known associated genes and proteins, and to investigate the resulting protein–protein interaction network for statistical overlaps. This has also been an approach in network medicine, in which diseases are clustered based on shared associated genes, as is seen, for example, in the human disease network. Using comorbidities from Medicare claims data, Park et al. used gene–disease association data to document that higher comorbidity was related to increased genetic overlap.