Closing keynote lecture at the EATRIS-Plus summerschool on personalised medicine, outlining developments, opportunities, challenges and recommendations to do next in this exciting era of personalised medicine.
2021 06-14 EATRIS-Plus summer school, Alain van GoolAlain van Gool
Introductory lecture for the 100 participant summer school of the EATRIS-Plus project, outlining personalized medicine, biomarker and multi-omics strategies and use cases.
2019 06-19 Dutch association for clinical chemistry and laboratory medicine -...Alain van Gool
Sharing my views on how X-omics biomarker analyses through next gen sequencing and mass spectrometry will change the landscape of diagnostics and clinical chemistry in the near future.
2021 03-25 11th World Clinical Biomarkers & Companion Diagnostics, Alain van ...Alain van Gool
Closing keynote of a 3-day conference on clinical biomarkers and companion diagnostics, organised by Hanson Wade, outlining the power of omics approaches in healthcare and translation of inovations to impact.
2019 02-21 Oxford Global 14th Biomarker Congress, Manchester, Alain van GoolAlain van Gool
Outline of innovations in clinical X-omics approaches towards personalized diagnostics in our clinical laboratory, presented for an audience of experienced diagnostic and pharmaceutical biomarker scientists.
2017 05-18 Radboudumc Information Management Inspiration Point, Nijmegen, Ala...Alain van Gool
Lecture @ the Inspiration Point of the department Information Management at Radboudumc, to kick-off a discussion with these data specialists the strong needs for good data stewardship and steps that are being taken in Netherlands to organize this well.
2021 06-14 EATRIS-Plus summer school, Alain van GoolAlain van Gool
Introductory lecture for the 100 participant summer school of the EATRIS-Plus project, outlining personalized medicine, biomarker and multi-omics strategies and use cases.
2019 06-19 Dutch association for clinical chemistry and laboratory medicine -...Alain van Gool
Sharing my views on how X-omics biomarker analyses through next gen sequencing and mass spectrometry will change the landscape of diagnostics and clinical chemistry in the near future.
2021 03-25 11th World Clinical Biomarkers & Companion Diagnostics, Alain van ...Alain van Gool
Closing keynote of a 3-day conference on clinical biomarkers and companion diagnostics, organised by Hanson Wade, outlining the power of omics approaches in healthcare and translation of inovations to impact.
2019 02-21 Oxford Global 14th Biomarker Congress, Manchester, Alain van GoolAlain van Gool
Outline of innovations in clinical X-omics approaches towards personalized diagnostics in our clinical laboratory, presented for an audience of experienced diagnostic and pharmaceutical biomarker scientists.
2017 05-18 Radboudumc Information Management Inspiration Point, Nijmegen, Ala...Alain van Gool
Lecture @ the Inspiration Point of the department Information Management at Radboudumc, to kick-off a discussion with these data specialists the strong needs for good data stewardship and steps that are being taken in Netherlands to organize this well.
Developing a national strategy to bring pathogen genomics into practiceExternalEvents
http://www.fao.org/about/meetings/wgs-on-food-safety-management/en/
Developing a national strategy to bring pathogen genomics into practice. Presentation from the Technical Meeting on the impact of Whole Genome Sequencing (WGS) on food safety management and GMI-9, 23-25 May 2016, Rome, Italy.
2015 09-14 Precision Medicine 2015, London, Alain van GoolAlain van Gool
Outline of my view hoe personalized health(care) is more than just targeted medicines, also including personal motivation and actions towards disease prevention. It also outlines 4 key factors that should be in order for optimal personalized health(care): 1. start with patients first, 2. Accelerate translation research to application, 3. Copy best practice, 4. Spread the word.
2016 05-24 Kick-off The Danish Biomarker Network, Copenhagen, Alain van GoolAlain van Gool
Keynote lecture given at the kick-off of The Danish Biomarker Network in Copenhagen for a great audience of enthousiastic patients, biotech/pharma developers and ICT experts.
2022-10-12 The future of population health_Alain van Gool.pdfAlain van Gool
Lecture as part of a global streamed event across Japan, Europe, USA with amazing speakers on the future of population health, in which I shared stories of personalized health(care).
2017 02-22 Oxford Global Biomarker Congress, Manchester, Alain van GoolAlain van Gool
Outline of various technology infrastructures (in Radboudumc, Netherlands, European) aiming at filing innovation gaps in personalized medicine and health research.
Lecture on biomarkers (principles, potentials, pitfalls) for 200 pharmaceutical professionals as part of the IMI Pharma Train course organised by the European Center for Pharmaceutical Medicine
2020 08-28 SensUs Event 2020 keynote, Eindhoven, Alain van GoolAlain van Gool
Closing keynote for international students participating in the SensUs Event 2020, where they designed and created a novel sensor for drug level monitoring in epilepsy treatment. Lecture outlined innovations in biomarkers in personalized health(care).
2022-04-14 EuroMedLab, Munich, Alain van GoolAlain van Gool
Keynote lecture at the EuroMedLab 2021 providing an audience of clinical chemists and laboratory medicine scientists with advancements of multi-omics applications in personalized healthcare, and challenges that we need to solve as translational scientists.
Enfermedad minoritaria, terapias nuevas. Una patología que afecta a menos de cinco personas por cada 10.000 habitantes es considerada una enfermedad rara o minoritaria. 35 millones de europeos se ven afectados por alguna de ellas. El 80% son de origen genético y conseguir un diagnóstico rápido es vital para asegurar la calidad de vida futura. La clave, una vez más, es apostar y potenciar la investigación biomédica. Se revisarán los resultados obtenidos los últimos 14 años, en el marco científico y regulador impulsado por la UE desde el año 2000. Sin embargo, se analizarán las dificultades y oportunidades para impulsar la investigación traslacional en estas enfermedades.
Sigue la presentación en Youtube: https://www.youtube.com/watch?v=d4U4a8xFCzA&
Please share this webinar with anyone who may be interested!
Watch all our webinars: https://www.youtube.com/playlist?list=PL4dDQscmFYu_ezxuxnAE61hx4JlqAKXpR
Cancer care is increasingly tailored to individual patients, who can undergo genetic or biomarker testing soon after diagnosis, to determine which treatments have the best chance of shrinking or eliminating tumours.
In this webinar, a pathologist and clinical oncologist discuss:
● how they are using these new tests,
● how they communicate results and treatment options to patients and caregivers, and
● how patients can be better informed on the kinds of tests that are in development or in use across Canada
View the video: https://youtu.be/_Wai_uMQKEQ
Follow our social media accounts:
Twitter - https://twitter.com/survivornetca
Facebook - https://www.facebook.com/CanadianSurvivorNet
Pinterest - https://www.pinterest.com/survivornetwork
YouTube - https://www.youtube.com/user/Survivornetca
2023-11-09 HealthRI Biobanking day_Amsterdam_Alain van Gool.pdfAlain van Gool
Examples of lessons learned in Omics-based biomarker studies from myself and colleagues in X-omics and EATRIS, for an audience of biobankers, researchers and diagnostic/clinical chemistry experts.
2023-11-14 Biomarkers Europe 2023, Berlin, Alain van Gool.pdfAlain van Gool
Lecture at the Biomarkers Europe 2023 conference for an audience of pharma scientists and omics/data solution providers. I outlined several initiatives of potential interest and discussed development of our sensitive personalized clinical biomarker test for minimal residual disease monitoring in multiple myeloma.
2022-11-23 DTL Future of data-driven life sciences, Utrecht, Alain van Gool.pdfAlain van Gool
A pitch on directions to improve experimental reproducibility, illustrated by examples of past experiences. I made the plee to move from 'Proudly invented here' to 'Proudly copyied from', to re-use each other's eperiences in successes and failures.
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Developing a national strategy to bring pathogen genomics into practiceExternalEvents
http://www.fao.org/about/meetings/wgs-on-food-safety-management/en/
Developing a national strategy to bring pathogen genomics into practice. Presentation from the Technical Meeting on the impact of Whole Genome Sequencing (WGS) on food safety management and GMI-9, 23-25 May 2016, Rome, Italy.
2015 09-14 Precision Medicine 2015, London, Alain van GoolAlain van Gool
Outline of my view hoe personalized health(care) is more than just targeted medicines, also including personal motivation and actions towards disease prevention. It also outlines 4 key factors that should be in order for optimal personalized health(care): 1. start with patients first, 2. Accelerate translation research to application, 3. Copy best practice, 4. Spread the word.
2016 05-24 Kick-off The Danish Biomarker Network, Copenhagen, Alain van GoolAlain van Gool
Keynote lecture given at the kick-off of The Danish Biomarker Network in Copenhagen for a great audience of enthousiastic patients, biotech/pharma developers and ICT experts.
2022-10-12 The future of population health_Alain van Gool.pdfAlain van Gool
Lecture as part of a global streamed event across Japan, Europe, USA with amazing speakers on the future of population health, in which I shared stories of personalized health(care).
2017 02-22 Oxford Global Biomarker Congress, Manchester, Alain van GoolAlain van Gool
Outline of various technology infrastructures (in Radboudumc, Netherlands, European) aiming at filing innovation gaps in personalized medicine and health research.
Lecture on biomarkers (principles, potentials, pitfalls) for 200 pharmaceutical professionals as part of the IMI Pharma Train course organised by the European Center for Pharmaceutical Medicine
2020 08-28 SensUs Event 2020 keynote, Eindhoven, Alain van GoolAlain van Gool
Closing keynote for international students participating in the SensUs Event 2020, where they designed and created a novel sensor for drug level monitoring in epilepsy treatment. Lecture outlined innovations in biomarkers in personalized health(care).
2022-04-14 EuroMedLab, Munich, Alain van GoolAlain van Gool
Keynote lecture at the EuroMedLab 2021 providing an audience of clinical chemists and laboratory medicine scientists with advancements of multi-omics applications in personalized healthcare, and challenges that we need to solve as translational scientists.
Enfermedad minoritaria, terapias nuevas. Una patología que afecta a menos de cinco personas por cada 10.000 habitantes es considerada una enfermedad rara o minoritaria. 35 millones de europeos se ven afectados por alguna de ellas. El 80% son de origen genético y conseguir un diagnóstico rápido es vital para asegurar la calidad de vida futura. La clave, una vez más, es apostar y potenciar la investigación biomédica. Se revisarán los resultados obtenidos los últimos 14 años, en el marco científico y regulador impulsado por la UE desde el año 2000. Sin embargo, se analizarán las dificultades y oportunidades para impulsar la investigación traslacional en estas enfermedades.
Sigue la presentación en Youtube: https://www.youtube.com/watch?v=d4U4a8xFCzA&
Please share this webinar with anyone who may be interested!
Watch all our webinars: https://www.youtube.com/playlist?list=PL4dDQscmFYu_ezxuxnAE61hx4JlqAKXpR
Cancer care is increasingly tailored to individual patients, who can undergo genetic or biomarker testing soon after diagnosis, to determine which treatments have the best chance of shrinking or eliminating tumours.
In this webinar, a pathologist and clinical oncologist discuss:
● how they are using these new tests,
● how they communicate results and treatment options to patients and caregivers, and
● how patients can be better informed on the kinds of tests that are in development or in use across Canada
View the video: https://youtu.be/_Wai_uMQKEQ
Follow our social media accounts:
Twitter - https://twitter.com/survivornetca
Facebook - https://www.facebook.com/CanadianSurvivorNet
Pinterest - https://www.pinterest.com/survivornetwork
YouTube - https://www.youtube.com/user/Survivornetca
2023-11-09 HealthRI Biobanking day_Amsterdam_Alain van Gool.pdfAlain van Gool
Examples of lessons learned in Omics-based biomarker studies from myself and colleagues in X-omics and EATRIS, for an audience of biobankers, researchers and diagnostic/clinical chemistry experts.
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2023-11-14 Biomarkers Europe 2023, Berlin, Alain van Gool.pdfAlain van Gool
Lecture at the Biomarkers Europe 2023 conference for an audience of pharma scientists and omics/data solution providers. I outlined several initiatives of potential interest and discussed development of our sensitive personalized clinical biomarker test for minimal residual disease monitoring in multiple myeloma.
2022-11-23 DTL Future of data-driven life sciences, Utrecht, Alain van Gool.pdfAlain van Gool
A pitch on directions to improve experimental reproducibility, illustrated by examples of past experiences. I made the plee to move from 'Proudly invented here' to 'Proudly copyied from', to re-use each other's eperiences in successes and failures.
2022-09-08 ECPM Digital Biomarkers and AI, Basel, Alain van Gool.pdfAlain van Gool
Lecture for 150 pharma professionals to outline the potentials and things-to-do with digital biomarkers, as part of a ECPM training on digitization and AI in drug development.
2021 12-10 Amalia Science Day, Nijmegen, Alain van GoolAlain van Gool
Short lecture as part of a highly diverse science day of the Amalia Children's hospital, outlining a variety of innovations in our Radboudumc, where I could outline some of our breakthroughs in applying multi-omics in pediatric healthcare.
2020 09-07 European Center Pharmaceutical Medicine course Biomarkers, Basel, ...Alain van Gool
Tutorial lecture on biomarkers for pharmaceutical industry R&D professionals, outlining status, potential and challenges of biomarkers in pharma, clinic and society.
2020 02-10 European Center Pharmaceutical Medicine course - biomarkers, Basel...Alain van Gool
Review of biomarkers in personalized healthcare covering pharmaceutical drug development, translational clinical research, digital biomarkers and innovation gaps. This lecture was given as part of an advanced and fantastic pharmaceutical sciences course provided by ECPM.
2019 10-14 2nd Int Congress on Precision Medicine, Munich, Alain van GoolAlain van Gool
Opening lecture at the 2nd International Congress on Precision Medicine in Munich, outlining progress in omics-based biomarkers for rare diseases, biomarker innovation gaps and multi-partner initiatives to bridge those gaps to applications. Also reviewed the highlights of our recently published Handbook of Biomarkers and Precision Medicine.
2019 09-23 COST CliniMARK summerschool, Spetses, Alain van GoolAlain van Gool
Opening lecture of the COST CliniMARK summer school 'Approaches for Biomarker Discovery and Validation'. Extensive introduction in biomarker approached used in pharmaceutical industry, academic research and clinical care, and society, combined with review of biomarker innovation gaps and outlook.
Lecture describing workflows and case studies from the Translational Metabolic Laboratory @Radboudumc how to translate x-omics biomarker signatures to clinical implementation. I also highlighted new developments to join forces in the Netherlands X-omics Initiative, United for Metabolic Disease and events/book launches in the next months.
2019 03-14 Health Valley Event 2019, Nijmegen, Alain van GoolAlain van Gool
Lecture on innovations in personalized healthcare using an integrated X-omics approach towards personalized diagnostics, as part of the regional ambitious TopFit program.
2018 12-04 CHAINS X-omics workshop lecture, Veldhoven, Alain van GoolAlain van Gool
Introducing the innovations we plan to do in the Netherlands X-omics Initative, together with other X-omics consortium members, at a dedicated X-omics workshop at the annual congres of the Netherlands Chemistry society.
2018 11-28 SAB Interreg BIC project Baltic Sea Region, Copenhagen, Alain van ...Alain van Gool
Overview of the current challenges in biomarker commercialisation, to kick off the scientific advisory board meeting with the multidisciplinary Interreg BIC project team.
2018 11-26 KNAW-AcTI symposium Personalized Health, Amsterdam, Alain van GoolAlain van Gool
Lecture at a citizen discussion evening, reviewing the promises and (ethical) considerations of technology developments to support personalized health, organised by the Royal Academy of Sciences and the Netherlands Academy of Technology and Innovation.
2018 11-02 Healthy Brain Cohort progress meeting, Nijmegen, Alain van GoolAlain van Gool
Highlights and anecdotes from my experiences in interdisciplinary research in big data for personalized healthcare whilst working in Europe, USA and Singapore
Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
RESULTS: Overall life span (LS) was 2252.1±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years – 64.8%, 20 years – 42.5%. 513 LCP lived more than 5 years (LS=3124.6±1525.6 days), 148 LCP – more than 10 years (LS=5054.4±1504.1 days).199 LCP died because of LC (LS=562.7±374.5 days). 5YS of LCP after bi/lobectomies was significantly superior in comparison with LCP after pneumonectomies (78.1% vs.63.7%, P=0.00001 by log-rank test). AT significantly improved 5YS (66.3% vs. 34.8%) (P=0.00000 by log-rank test) only for LCP with N1-2. Cox modeling displayed that 5YS of LCP significantly depended on: phase transition (PT) early-invasive LC in terms of synergetics, PT N0—N12, cell ratio factors (ratio between cancer cells- CC and blood cells subpopulations), G1-3, histology, glucose, AT, blood cell circuit, prothrombin index, heparin tolerance, recalcification time (P=0.000-0.038). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and PT early-invasive LC (rank=1), PT N0—N12 (rank=2), thrombocytes/CC (3), erythrocytes/CC (4), eosinophils/CC (5), healthy cells/CC (6), lymphocytes/CC (7), segmented neutrophils/CC (8), stick neutrophils/CC (9), monocytes/CC (10); leucocytes/CC (11). Correct prediction of 5YS was 100% by neural networks computing (area under ROC curve=1.0; error=0.0).
CONCLUSIONS: 5YS of LCP after radical procedures significantly depended on: 1) PT early-invasive cancer; 2) PT N0--N12; 3) cell ratio factors; 4) blood cell circuit; 5) biochemical factors; 6) hemostasis system; 7) AT; 8) LC characteristics; 9) LC cell dynamics; 10) surgery type: lobectomy/pneumonectomy; 11) anthropometric data. Optimal diagnosis and treatment strategies for LC are: 1) screening and early detection of LC; 2) availability of experienced thoracic surgeons because of complexity of radical procedures; 3) aggressive en block surgery and adequate lymph node dissection for completeness; 4) precise prediction; 5) adjuvant chemoimmunoradiotherapy for LCP with unfavorable prognosis.
Explore natural remedies for syphilis treatment in Singapore. Discover alternative therapies, herbal remedies, and lifestyle changes that may complement conventional treatments. Learn about holistic approaches to managing syphilis symptoms and supporting overall health.
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.
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
Anti ulcer drugs and their Advance pharmacology ||
Anti-ulcer drugs are medications used to prevent and treat ulcers in the stomach and upper part of the small intestine (duodenal ulcers). These ulcers are often caused by an imbalance between stomach acid and the mucosal lining, which protects the stomach lining.
||Scope: Overview of various classes of anti-ulcer drugs, their mechanisms of action, indications, side effects, and clinical considerations.
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
Couples presenting to the infertility clinic- Do they really have infertility...Sujoy Dasgupta
Dr Sujoy Dasgupta presented the study on "Couples presenting to the infertility clinic- Do they really have infertility? – The unexplored stories of non-consummation" in the 13th Congress of the Asia Pacific Initiative on Reproduction (ASPIRE 2024) at Manila on 24 May, 2024.
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
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
19. 19 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
But … crap data will remain crap data
even if made FAIR and AI-ready !
Big hopes for
AI
20. 20 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
Gartner Hype cycle of innovations in personalised medicine
21. 21 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
Gartner Hype cycle of innovations in personalised medicine
22. ➢ A biomarker may be a single characteristic or a panel of multiple characteristics: Multimodal Biomarkers
➢ Improve performance as an indicator of normal biological processes, pathogenic processes, or biological
responses to an exposure or intervention.
➢ Multi-component biomarkers (composite, multi-variate, or multi-modal biomarkers) are Key for decision-making.
➢ Multimodal Biomarkers: comprised of multiple components of the same type or different types: molecular,
histologic, radiographic, and physiologic characteristics.
➢ Multi-component (multi-variate) biomarkers could also include clinical characteristics and patient demographics,
may be used independently and/ or in combination through an algorithm
➢ Development of a multi-component biomarker may include or lead to transformative operations, machine
learning algorithms, model-based prediction, or additional inputs into the final biomarker.
➢ BEST (Biomarkers, EndpointS, and other Tools) adapts to multi-component biomarkers: FDA-wide and external
experience regarding the use of multi-component biomarkers: measurements, outputs, transformation/modeling
of output and used in decision making.
MULTIMODAL BIOMARKERS features
24. 24
Personalized healthcare in rare metabolic diseases
Uridine treatment for Uridine Monophosphate Synthase (UMPS) deficiency
A short story:
Dr. Lonneke de Boer
Pediatrician
Metabolic Disorders,
Radboudumc
Parents
2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
25. Personalized healthcare in rare metabolic diseases
Personalized diagnosis:
• High orotic acid
Personalized therapy:
• Uridine supplementation
Diagnosis:
• Genetic screening:
• Result trio WES: no distinct genetic cause
• Heterozygous mutation in SEC23B, associated with dyserythropoietic anemia type II (CSAII) in case of
bi-allelic mutations
• Metabolic screening:
• Urine organic acids and purine/pyrimidine analysis: very high orotic acid: 3404 μmol/mmol kreat –
reference 0-4, without indication in serum amino acids for a urea cycle disorder
• Diagnosis: Uridine monophosphate synthase (UMPS) deficiency / hereditary orotic aciduria
25 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
26. 26
Personalized healthcare in rare metabolic diseases
Uridine treatment for Uridine Monophosphate Synthase (UMPS) deficiency
An other short story:
Parents
2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
27. Treatment of Uridine monophosphate synthase (UMPS) deficiency
• 1969 Becroft et al: Hereditary orotic aciduria: long term therapy with uridine and a trial of uracil
• 2014 Balasubramaniam et al: Inborn errors of pyrimidine metabolism, clinical update and therapy
• 15 cases reported, in the Netherlands in meanwhile 2 newly diagnosed patients
• Uridine tri acetate (Xuriden), registered in USA, 800.000 euro/year/patient (!!)
• Not registered in NL
• Route to obtain therapeutic drug difficult (import, insurances)
27 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
28. Treatment of Uridine monophosphate synthase (UMPS) deficiency
Alternative:
• Food supplement@local drugstore, good for concentration, €36,95 for 50 gram
• Started on 60 mg/kg in January 2020
• Effect:
• From blood transfusions every 5-7 weeks, no blood transfusions needed now for one year
• Reticulocytes and leucocytes increased
• Much more energy, eating improved, growth improved
• But orotic acid levels are still high, effect on kidney to be seen
• Relatively high dose uridine
28 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
29. Personalized healthcare in rare metabolic diseases
Uridine treatment for Uridine Monophosphate Synthase (UMPS) deficiency
29
Parents
2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
30. Lessons learned
On personalized diagnosis:
• Metabolic screening adds strongly to genetic screening in identifying mechanism of
disease
• Advantages in using multi-modal omics methods in clinical diagnostics
On personalized medicine:
• Impressive effects of uridine therapy,
• Increase quality of life for patient and family
• Frequent issues regarding expensive medication versus cheap supplements
• FAST (= Future Affordable and Sustainable Therapies) initiative initiated by ZonMW, and part of EATRIS-
NL (www.fast.nl)
30 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
31. Integration of multimodal data will give better big picture
{The Blind Men and the Elephant, Daigneault, 2013} {Karr, Cell 2012}
2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
31
32. The power of omics in diagnostics (1)
Single
biomarker
Omics
panel
Patient 1
Patient 2
• Higher diagnostic yield
• Contextualisation of change
↑ increase
↓ decrease
biomarker x
32 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
33. 33
The power of omics in diagnostics (2)
• More biomarker features =
better diagnostic performance (AUC)
Single biomarker
Omics panel
Full Omics profile
500
1000
1500
2000
m/z
5 10 15 20 25 30 35 40 Time [min]
But also:
• Less biology, more statistics
2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
34. 34
Clinical omics data to drive personalized healthcare
Personalized analysis
Genomics
Metabolomics
Glycomics
Glycoproteomics
Deep Learning/ AI
Integrated diagnostics
System biology
Diagnosis of (new)
disease mechanisms
Transcriptomics
Proteomics
Epigenetics
Cellomics
…-omics
Initiation and monitoring of
(new) personalized therapies
34 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
35. Genome Technology Center @Radboudumc
• Targeted, arrays, smMIPs, WES, WGS, long read, optical genome mapping, etc
• https://www.radboudumc.nl/en/research/radboud-technology-centers/genomics
35 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
36. Diagnostic progress by Next Generation Sequencing
Sanger sequencing
Gene-by-gene
5.4 tests / patient (1-28)
Whole Exome Sequencing
All genes at once
1 test / patient
Whole Genome Sequencing
Entire genome once
1 test / patient
Source figure: Edwin Cuppen,
Hartwig Medical Foundation
Source: Prof Lisenka Vissers,
Radboudumc
Diagnostic
yield?
36 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
37. Clinical utility studies
Replace conventional
diagnostic test
by innovation?
Exomes in 2017 Genomes in 2022
Source: Prof Lisenka Vissers, Radboudumc
37 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
38. ‘Improved
outcome’
‘Worse
outcome’
Less expensive
Willingness
to pay
More expensive
Cost-effectiveness analysis for innovation in genetic diagnostic care
Implement
Old situation
remains
Added benefit outweighs
added costs?
Reduced costs outweighs
loss in outcome?
Sanger
WES
38 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
39. ‘Improved
outcome’
‘Worse
outcome’
Less expensive
WES
Willingness
to pay
More expensive
Cost-effectiveness analysis for innovation in genetic diagnostic care
Implement
Old situation
remains
Added benefit outweighs
added costs?
Reduced costs outweighs
loss in outcome?
WGS
• WGS not yet cost-effective
• How to get there?
- Reduce costs
- Increase diagnostic yield
→ Increase volume
→ Test WES negative patients
39 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
40. Genomes to replace other workflows
Schobers et al. manuscript in preparation
*The 1,271 variants contain 137 variants which are unlikely to be detected due to
the echnical limitations associated with short read sequencing technologies
*
*
Selection
of
positive
cases
Size
of
variants
(n=1,271)*
Size
of
variants
(n=1,271)*
Original
workflow
(n=1,271)*
40 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
41. FISH
Array
B
ES
PCR Blot
Sanger smMIP MLPA
Markers Karyo
SNV, indels
CNV
CNV, STR
genotype
STR,
UPD
CNV
1bp-10Mb
CNV
>10kb
UPD
CNV
>1Mb
SV, CA
Coding
SNV, indels
CNV
94% 95% 86% 100% 89% 94% 93% 79% 80% 98%
0%
20%
40%
60%
80%
100%
Sanger smMIP PCR Blot Markers MLPA ARRAY KARYO FISH ES
-
+
targeted genome wide
Schobers et al. manuscript in preparation
>98% of variants are readily detected in SR-WGS
41 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
42. >98% of variants are readily detected in SR-WGS
Schobers et al. manuscript in preparation
*The original 1,271 variants in 1,000 patients contained 137 variants
which are unlikely to be detected due to the technical limitations
associated with short-read sequencing technologies. These have been
corrected for in this analysis.
42 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
43. Impact analysis for replacing workflows by SR-WGS in our lab
43 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
45. 45
Advantages digital biomarkers
• Continuous monitoring versus 1 snapshot observation
• Real world data versus data from clinically controlled circumstances
• More comprehensive and rich data sets
• Truely personalized
• Strong potential in molecular + clinical + digital + environmental
biomarkers for optimal insight in complex biological systems
• Better basis to drive Personalized health(care)
Dutch CC meeting ‘Personalized Health Care”
Ede, 2 October 2013
Alain van Gool
Lecture LKCH, UMC Utrecht
29 October 2013
Alain van Gool
www.idtechex.com
Translational Metabolic Laboratory
2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
46. 46
healthy disease disease +
treatment
Digital biomarkers enable personalized health monitoring
Subgroups
Population Past
Present
Future
100%
Individual data through self-monitoring
treatment time
value
value
2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
47. Personalized Parkinson Project
Prof Bas Bloem
Dept Neurology
Radboudumc
47 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
51. Scheduled tasks
• Close your eyes, and count back from 1
00 aloud
• Sit until you receive notification from the Study Wat
After task is complete, mark your tremor severity on the
scale:
Confidential & Proprietary
• Press the button by the check mark to start.
• Sit comfortably with your hands resting on your thighs, palms up
• You will have a countdown of 5 seconds to prepare before the timer starts
• Close your eyes, and count back from 1
00 aloud
• You will have a countdown of 5 seconds to prepare before the timer starts
• Close your eyes, and count back from 1
00 aloud
• Sit until you receive notification from the Study Watch in 20 seconds
Count down Timer Rate tremor / task
51 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
52. 1. Seated rest
Skill check
To be performed twice each day at approximately the same times each day, at
clinician pre-programmed times that approximately represent the participant’s
opinion of a time representing relatively good symptom control and another time
representing relatively poorer symptom control:
Skills Check notification will take over the time screen.You can accept the
notification by selecting the check mark or snooze by selecting the clock.If snooze is
selected the notification will reappear in 1
5 minutes.The notification can be snoozed
up to 2 times.
Seated rest (Rest tremor)
52 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
53. 3. Hand opening
• Press the button by the check mark to start.
• Sit comfortably in a chair
• On the side where you’re wearing Study Watch, hold your hand up, palm fa
away from you, and open and close the hand
53 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
54. Time since start of the study (days)
Average wear time (hours/day)
54
54 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
55.
56. 56
Personalized health(care) model
Personalized intervention
of patients-like-me
Personal thresholds
of persons-like-me
Multi-modal
Biomarker
Data
Molecular
Clinical
Digital
Environmental
Etc …
Disease
Health
Time
Selfmonitoring
Inspired by:
Jan van der Greef
System Biology TNO
Personal profile
Personalized health
Personalized medicine
Challenge/ Event
Primary
prevention
Secondary
prevention
Tertiary
prevention
Leroy Hood
Inst System Biology
Mike Snyder
Stanford Medicine
Based on:
Longitudinal multimodal health data
2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
57. 57
A personalized data-driven GPS for health
• Monitor on background
• Alert when you are at risk
• Advice what to do
• Doctor as coach?
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60. 60
Embrace opportunities but solve the translational innovation gaps !
innovation
1. Research to research
2. Research to clinic
3. Research to society
{See www.slideshare.net/alainvangool}
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61. 61
Biomarker innovation gaps: some numbers
~ 5 biomarkers/
working day
1 biomarker/
1-3 years
1 biomarker/
2-10 years
Discovery Clinical
validation/confirmation
Diagnostic
test
Number of
biomarkers
Gap 1
Gap 2
Eg Biomarkers in time: Prostate cancer
May 2011: 2,231 biomarkers
Nov 2012: 6,562 biomarkers
Oct 2013: 8,358 biomarkers
Nov 2014: 10,350 biomarkers
Oct 2015: 11,856 biomarkers
Nov 2016: 14,481 biomarkers
Oct 2017: 15,463 biomarkers
Oct 2018: 16,480 biomarkers
386 Pharmacogenomic
biomarkers in drug
labeling (all drugs)
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62. 62 Q8 course Personalized Healthcare, Radboudumc, Nijmegen, 23 June 2021, Alain van Gool
63. 63
{van Gool et al, Nature Reviews Drug Discovery, Apr 2017}
1. We need to join forces in quality, not quantity
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64. 64
Get rid of publication bias ?
Different rewarding schemes needed
(Impact versus Impact factor? Team science vs PI? etc
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65. 65
Attitude of life scientists ?
To discover or to confirm
Invent a better wheel?
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66. 66
Different behaviour life scientists is needed to improve quality
“Every-one wants to innovate,
but no-one wants to change”
Bas Bloem (Radboudumc)
on clinical translation
“' We are really good at innovation
but bad in scaling”
Prins Constantijn van Oranje
at Health-RI conference 2021
“We should move from ‘Proudly invented here’
to ‘Proudly copied from’ “
Alain van Gool
at DTL Partner Event 2022
2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
67. 2. We need to bring (omics) analytics to a higher level
• Technologies: Quality, harmonised, standardised, cheaper, higher throughput
• Translation: Clinical and regulatory acceptance
• Genomics is quite advanced
• Proteomics, metabolomics (and other omics) much less so
Dynamic
Static 1. Biology
2. Analytics
• Samples
• Preanalytical factors
• Analytics
• Data analysis
• Interpretation
3. Implementation (democratization)
67 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
68. The Netherlands X-omics Initiative • National Roadmap Large Scale
Research Infrastructure
• 2018-2029
• €40M, partially funded by NWO
Objectives:
1. Advance X-omics technologies far beyond
state-of-the-art
2. Realize a genuinely integrated X-omics
infrastructure in NL
3. Develop and demonstrate impact of robust X-
omics analysis
Coordinator:
Alain van Gool
70. 3. Good data stewardship is key
{Wilkinson et al,
Nature Scientific Data, 2016}
• Data capture
• Data stewardship (FAIR)
“Good data stewardship will enable open/community science,
enable applications such as Artificial Intelligence (AI)
and drive faster breakthroughs in personalized health(care)“
70 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
71. 71
Data interoperability will lead to new knowledge
Resource
Description
Framework
(RDF)
If data are interoperable … … analytics provide new knowledge
71
{Source: prof Barend Mons}
2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
72. 4. We need to share and re-use lessons learned
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73. 73
https://www.health-ri.nl/
Joining forces on data and AI on (inter)national level
https://nlaic.com/
Funded by Netherlands growth funds as umbrella networks of 100+ organisations
2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
76. Radboud Healthy Data program
76
Local program:
“Connect all relevant data and AI expertises and activities on the Radboud
campus for more efficient re-use and synergy, resulting in more impact in
science and society aimed at health and affordable healthcare.”
Radboud campus:
- Radboudumc
- Radboud University
- University Applied Sciences
Arnhem Nijmegen
- Max Planck Institute
- Multiple spin-off and scale-up
companies
03/2023 – 03/2028
21M euro
60 new vacancies
www.healthydata.nl
77. 77
5. Most importantly:
We always need to focus on the end user: the patient / citizen
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78. 78
78
“It’s far more important to
know what person the
disease has
than what disease the
person has.”
Hippocrates, 400 B.C
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79. 79 2023-04-20 EATRIS-Plus summerschool on personalised medicine, Lisbon, Alain van Gool
Ethical
Legal
Societal
Aspects
Personal
preferences
80. There is no single one reflection of health
• ‘Funhouse mirror effect’
• Multiple sources of your data
• Clinical chemistry
• Omics analyses
• Digital biomarkers/ wearables
• Self-testing health checks
• Social media
• Surrounding
• Each are a skewed image of you
• How to deal with all of this for your
personal health(care)?
{Mira Vegter, Hub Zwart, Alain van Gool, Life Sci Soc Policy, 2021}
80
Afterthought:
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81. Acknowledgements
Hans Wessels
Jolein Gloerich
Dirk Lefeber
Udo Engelke
Purva Kulkarni
Gadi Armony
Richard Rodenburg
Bert van den Heuvel
and others
Marcel Nelen
Albert Heck
Thomas Hankemeier
Peter Bram ‘t Hoen
Daniella Kasteel
Jessie Smits
and others
Collaborators/funders
Helger Ijntema
Alexander Hoischen
Lisenka Vissers
Christian Gillisen
Janneke Weiss
Han Brunner
alain.vangool@radboudumc.nl
www.radboudumc.nl/en/people/alain-van-gool
www.slideshare.net/alainvangool
Dapha Habets
Irene Keularts
Marek Noga
and others
Gary Kruppa
Pierre-Olivier Schmit
Dennis Trede
and others
Laura Garcia Bermejo
Andreas Scherer
Emanuela Oldoni
Toni Andreu
Florence Bietrix
Eliis Keidong
and others
Hans Jacobs
Peter-Bram ‘t Hoen
Anna Niehues
Xiaofeng Liao
Casper de Visser
Junda Huang
Translational Metabolic Laboratory
Human Genetics Nijmegen
Center for Molecular and Biomolecular Informatics