7_Hatim_Abdulhussein_CEO

Health Innovation Kent Surrey Sussex; Chief Officer, NHS Health Innovation Network, UK

Hatim is Chief Executive Officer for Health Innovation Kent Surrey Sussex, part of the NHS Health Innovation Network.  Alongside this role, he continues to practice as a General Practitioner.

In 2018, Hatim was appointed National Medical Directors Clinical Fellow to Professor Wendy Reid by the Faculty of Medical Leadership and Management. His key achievements were co-author and member of the Sir Keith Pearson Commission into NHS Staff and Learner Mental Health and co-founding the ‘Topol Programme for Digital Health Fellowships’ launched by Secretary of State for Health and Social Care in 2019. He later became the National Clinical Lead for AI and Digital Workforce at NHS England providing clinical leadership to the NHS Digital Academy and leading on AI in the NHS’s historic Long Term Workforce Plan.

Hatim studied Medicine at the prestigious Barts and the London School of Medicine and Dentistry, going on to complete a Masters in Sports and Exercise from the University of South Wales, and a Postgraduate Diploma in Digital Health Leadership from Imperial College London. Hatim holds Membership of the Faculty of Clinical Informatics and the Royal College of General Practitioners, as well as Fellowship of Advance Higher Education.

Hatim has been a Senior Lecturer at Brunel University London, supporting the Physician Associate MSc and development of Brunel Medical School. Hatim is a Honorary Senior Lecturer at Keele University, working with European partners to develop a Masters in Explainable AI in healthcare management. Hatim is also a member of the National Institute for Health and Care Excellence Technology Appraisals Committee, and the Coalition for Health AI Steering Committee.

Hatim is an advocate for safe, ethical and responsible digital and AI transformation and ensuring workforce preparedness for new innovations and technologies in health and care. He regularly speaks internationally and has contributed to the publication of academic papers and white papers spanning workforce, education reform, primary care, digital health and AI.

Outside of work Hatim enjoys travelling and football, and you will likely find him touring England’s best restaurants with his family. 

Abstract - Enabling Next-Gen Healthcare Workforce: From Vision to Reality

In this talk, we will explore the transformative vision set forth by the Topol Review, which aims to prepare the healthcare workforce to deliver the digital future. We will delve into how the NHS is adapting to and preparing for new technologies, with a particular focus on the impact of artificial intelligence (AI) on the workforce. Drawing from our extensive work within the NHS, we will highlight key insights and lessons learned in understanding the workforce implications of AI. Additionally, we will discuss the proactive measures being taken at Health Innovation KSS to equip the future healthcare workforce with the necessary skills and knowledge to thrive in an increasingly digital and data-driven environment. Join us as we navigate the journey from vision to reality, ensuring that our healthcare professionals are well-prepared to embrace the innovations of tomorrow.

12_Albarqoni_shadi

University of Bonn, Bonn, GERMANY

Shadi Albarqouni is a Palestinian-German Professor of Computational Medical Imaging Research. He received his B.Sc. and M.Sc. in Electrical Engineering from the IU Gaza, Palestine, in 2005, and 2010, respectively. In 2012, he received the DAAD research grant to pursue his Ph.D. at the Chair for Computer Aided Medical Procedures (CAMP), Technical University of Munich (TUM), Germany. During his Ph.D., Albarqouni worked with Prof. Nassir Navab on developing machine learning algorithms to handle noisy labels, coming from crowdsourcing, in medical imaging. His AggNet paper, published at the Special Issue on Deep Learning at the IEEE Transaction on Medcial Imaging (IF: 10.048), was among the first ones on Medical Imaging with Deep Learning and has been featured as the top downloaded article for a couple of years at IEEEXplore.

Albarqouni worked as a Senior Research Scientist & Team Lead at CAMP leading the Medical Image Analysis (MedIA). Together with his team addressed the common challenges concern the nature of medical data, namely heterogeneity, severe class-imbalance, few amounts of annotated data, inter-/intra-scanners variability (domain shift), inter-/intra-observer disagreement (noisy annotations). In 2019, Albarqouni received the prestigious P.R.I.M.E. fellowship for a one-year international mobility, where he worked as a Visiting Scientist at the Department of Information Technology and Electrical Engineering (D-ITET) at ETH Zürich, Switzerland. He worked with Prof. Ender Konukoglu on Modeling Uncertainty in Medical Imaging, in particular, the one associated with inter-/intra-raters variability. Afterwards, Albarqouni worked as a Visting Scientist with Prof. Daniel Rueckert at the Department of Computing at Imperial College London, United Kingdom.

Since Nov. 2020, Albarqouni has been appointed as an AI Young Investigator Group Leader at Helmholtz AI. The aim of Albarqouni’s Lab. is to develop innovative deep Federated Learning algorithms that can distill and share the knowledge among AI agents in a robust and privacy-preserved fashion. Since Jan. 2022, Albarqouni has been appointed as a W2 Professor of Computational Medical Imaging Research at the Faculty of Medicine, University of Bonn.

Albarqouni has more than 100 peer-reviewed publications in both Medical Imaging Computing and Computer Vision published in high impacted journals and top-tier conferences. He is an active member of MICCAI, BMVA, IEEE EMBS, IEEE CS, and ESR society. Recently, Albarqouni has been elected as a member for the European Lab for Learning and Intelligent Systems (ELLIS), the Arab German Young Academy (AGYA), and the Higher Council for Innovation and Excellence‎ in Diaspora (HCIE). Since 2015, he has been serving as a PC member for a couple of MICCAI workshops, e.g., COMPAY, DART, DCL, FAIR among others. Since 2019, Albarqouni has been serving as an Area Chair in Advance Machine Learning Theory at MICCAI. Recently, he has been serving as a Program Co-Chair at MIDL’22 in Swizterland, and as an Organizing Committee Member at ISBI’22 in India, MICCAI’24 in Morocco. His current research interests include Interpretable ML, Robustness, Uncertainty, and Federated Learning. He is also interested in Entrepreneurship and Startups for Innovative Medical Solutions with limited resources.

Abstract - Leveraging Collective Intelligence for inclusive Global Healthcare

Deep Learning (DL) stands at the forefront of artificial intelligence, revolutionizing computer science with its prowess in various tasks, especially in computer vision and medical applications. Yet, its success hinges on vast data resources, a challenge exacerbated in healthcare by privacy concerns. Enter Federated Learning, a groundbreaking technology poised to transform how DL models are trained without compromising data security. By allowing local hospitals to share only trained parameters with a centralized DL model, Federated Learning fosters collaboration while preserving privacy. However, hurdles persist, including heterogeneity, domain shift, data scarcity, and multi-modal complexities inherent in medical imaging. In this illuminating talk, we delve into the clinical workflow and confront the common challenges facing AI in Medicine. Our focus then shifts to Federated Learning, exploring its promise, pitfalls, and potential solutions. Drawing from recent breakthroughs, including a compelling MR Brain imaging case study published in Nature Machine Intelligence, we navigate the landscape of secure and efficient AI adoption in healthcare.

Guillaume_Canaud

Necker Enfants Malades University Hospital, APHP, Paris, France

Guillaume Canaud is a MD, PhD working at hôpital Necker Enfants Malades (Paris). He did his medical school in Montpellier and moved to Paris in 2002 to perform his Residency in Nephrology (2002 to 2007). He became Senior Resident in the Renal Division of Necker (Prof. Legendre) from 2007 to 2012. Concurrently, he spent four years from to 2008 to 2012 in the laboratory of Dr. Fabiola Terzi (INSERM U1151, Necker Hospital) to achieve his PhD degree in molecular and cellular biology. Then, he joined the Joseph Bonventre’s Laboratory (Harvard Medical School, Boston, USA) from 2012 to 2014 to achieve a postdoc. He came back to Christophe Legendre’s team with a faculty position (Associate Professor) and built his own group of research dedicated to translational medicine. He obtained an European Research Council starting grant (2015) for his kidney research project, an ERC Proof of Concept Grant for his translational research (2016) and an ERC Consolidator (2020) dedicated to the understanding of PIK3CA related disorders. Guillaume is now full professor at the Université Paris Cité /Hôpital Necker Enfants Malades and is working specifically on rare disorders involving the RAS/PIK3CA/AKT/mTOR pathways. He has created the Translational Medicine and Targeted Therapies Unit at Necker Enfants Malades.

Very recently, Guillaume and his group, identified and reported in Nature a very promising therapeutic for patients with a rare genetic disorder called PIK3CA-Related Overgrowth Syndrome (PROS). Guillaume and his group pushed the clinical development of this drug for patient with PROS. Three clinical trials were launched since 2019 and led to the US FDA accelerated approval on April 6th 2022 of alpelisib for patients with PROS aged of at least 2 years old.

He published as a first or last author in leading medical and scientific journals such as NatureThe New England Journal of MedicineNature Medicine, J Exp Med, Science Translational Medicine or Proceedings of the National Academy of Sciences USA. He received several awards including the 2018 Prize Jean Lecocq of the French Academy of Sciences, the 2019 Prize Eloi Collery of the French Academy of Medicine, the 2019 Ville de Paris Jean Hamburger Prize, the 2021 Unsolicited International Triennial Gagna A. & Ch. Van Heck Prize for Incurable Diseases, the 2022 Robert Schobinger Award from the International Society for the Study of Vascular Anomalies and the Prix Galien 2022.

Abstract - Drug repositioning in CLOVES Syndrom

CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA-related overgrowth syndromes (PROS). This rare condition has no specific treatment and a poor survival rate. Here, we describe a postnatal mouse model of PROS/CLOVES that partially recapitulates the human disease, and demonstrate the efficacy of BYL719, an inhibitor of PIK3CA, in preventing and improving organ dysfunction. On the basis of these results, we used BYL719 to treat nineteen patients with PROS. The drug improved the disease symptoms in all patients. Previously intractable vascular tumours became smaller, congestive heart failure was improved, hemihypertrophy was reduced, and scoliosis was attenuated. The treatment was not associated with any substantial side effects. In conclusion, this study provides the first direct evidence supporting PIK3CA inhibition as a promising therapeutic strategy in patients with PROS.

Fouad Chebib, MD, Nephrology consultant and pioneer in Chronic Kidney Disease and treatment research. Asset taken for professional use.

Mayo Clinic Florida – Jacksonville, Florida, USA

Dr. Fouad T. Chebib, MD, FASN, is a nephrologist and assistant professor of Medicine at Mayo Clinic Florida. After obtaining his undergraduate degree from the American University of Beirut, and his medical degree from the University of Balamand, Lebanon, Dr. Chebib pursued further specialization through a postdoctoral research fellowship in molecular nephrology and ion channels at Harvard University’s Alper Lab. His journey continued with a residency in internal medicine at Saint Elizabeth Medical Center, Tufts University, and a nephrology fellowship at Mayo Clinic, where he also spent two years as a Mayo Clinic Scholar under the mentorship of Dr. Vicente Torres.

Dr. Chebib’s commitment to combating Polycystic Kidney Disease (PKD) has been evident through his clinical focus and research endeavors aimed at understanding cyst formation in ADPKD and identifying targeted treatments. His efforts have contributed to the establishment of the Tolvaptan Clinic at Mayo Clinic, the first FDA-approved drug to slow PKD progression. An innovator in his field, Dr. Chebib holds a patent for his work and actively participates in major ADPKD clinical trials.

Dr. Chebib is the lead author on the US consensus guidelines on the use of Tolvaptan in ADPKD and has been an invited speaker at numerous national meetings, including the American Society of Nephrology and National Kidney Foundation, as well as various academic institutions. He is a member of the workgroup for the KDOQI US commentary on the KDIGO Clinical Practice Guidelines on ADPKD, where his expertise contributes to shaping clinical practices and guidelines that impact patients globally. Dr. Chebib’s interests includes establishing an individualized approach and precision in diagnosis and prediction of outcomes in ADPKD by leveraging advances in artificial intelligence.

As director of both the PKD Center of Excellence and the Discovery and Translational PKD Research lab at Mayo Clinic Florida, Dr. Chebib spearheads innovative research into novel therapeutic targets for PKD. His active engagement with the PKD Foundation’s Education Advisory Panel and Center of Excellence advisory board further highlights his unwavering commitment to eradicating PKD through education and research.

17_Pierre-Alexis DA COSTA

MD-PhD student, Sorbonne University Paris, France

Pierre-Alexis Da Costa is an MD-PhD student. After his first three years of medical studies at the Health Faculty of Rouen, he pursued his educational studies with a Master 2 in immunology at Sorbonne University, followed by a PhD at the Centre de Recherche des Cordeliers in Paris in the Inflammation Complement and Cancer team directed by Prof. Isabelle Cremer. Following his PhD, he plans to return to medical school. His scientific interests include immunology, oncology, image analysis and computational biology (mutiomics).

At the same time, Pierre-Alexis is also committed to improving study conditions. First, he was the vice-president in charge of student representation in 2020-2022 at the « Corporation des étudiants en médecine » of Rouen, of which he is an honorary member, then as the vice-president in charge of Research and Innovation at the « Association Nationale des Etudiants en Médecine de France » in 2022-2024.  Finally, since 2023, he has been the President of the « Tutorat Recherche de Rouen » , which promotes research in the Health Faculty of Rouen and is responsible for organizing the local Md-PhD course “Ecole Santé Sciences de Rouen” with Pr. Soumeya Bekri and Pr. François Estour.

Mie seest

Centre for Medical Science and Technology Studies, University of Copenhagen, Denmark

Mie S. Dam is an Assistant Professor in the Centre for Medical Science and Technology Studies, the University of Copenhagen. Through ethnographic fieldwork in animal-, cell-, and genomic laboratories and at public hospitals, her research addresses the ethical, social, and political aspects of precision oncology and its translation across laboratory, clinic, and patient lives. Trained as a MSc in Public Health, Mie S. Dam strives to weave together specific empirical observations with the broader social and public spheres in which biomedical technologies and healthcare practices develop. Her work has been published and recognized in international high-ranking social science journals.

Abstract - Empowering the Patient in the Precision Medicine Era

In this talk we explore selection practices in precision medicine. Precision medicine holds the great hope of selecting genetically fit medicine for the patient. However, in on-the-ground clinical practices, precision medicine is oriented towards selecting clinically and genetically fit patients for available therapies. Based on ethnographic research in oncology clinics and experimental labs, we show that matching patients with treatment is inseparable from dealing organizationally and morally with the large group of patients identified as unlikely to benefit from personalized cancer therapies. On one hand, precision medicine empowers patients who fit therapies or experimental trials. On the other hand, patients who have contributed their tissue and time to precision medicine, but do not match available therapies feel disempowered. They show us the huge challenges of turning the absence of personalized treatment options into care for patients.

16_Simon_Jones

St. Mary’s Hospital in Manchester, University of Manchester, UK

Simon Jones is a consultant in paediatric inherited metabolic diseases at the Willink Unit in Genomic Medicine, St. Mary’s Hospital in Manchester, UK. His major research interest is therapies for lysosomal storage diseases (LSDs). He received his medical training at the Edinburgh University Medical School, Edinburgh, UK, with a BSc in Neurosciences. He moved to London and trained in Paediatrics at Guy’s and St. Thomas’ Hospital, London, UK.  He has been working at the Willink Biochemical Genetics Unit in Manchester, UK since September 2005. Since 2008, he has been a consultant in paediatric inherited metabolic diseases at the Willink Unit and is now the clinical lead for the LSD service. The Willink Unit is now part of the Manchester Centre for Genomic Medicine at St. Mary’s Hospital, Manchester, UK. He is also the medical director of the NIHR Manchester children’s clinical research facility and an honorary MAHSC Professor in paediatrics and translational medicine. Prof. Jones has been actively involved in many phase I-IV international multicentre trials of novel therapies for LSDs. He is currently the principal investigator in a number of LSD trials, including several first in human gene therapy trials. He is the author of over 150 peer-reviewed papers and 5 book chapters.

10_Patricia_ellen_grant

Boston Children's Hospital – Harvard Medical School – Boston, USA

Dr. Grant is the Käthe Beutler, MD Harvard Professor of Pediatrics and Professor of Radiology at Harvard Medical School. She is the founding Director of the Fetal Neonatal Neuroimaging and Developmental Science Center (FNNDSC) in the Departments of Medicine and Radiology, the Director of Faculty Affairs in the Department of Radiology, the Direct of Research for the Division of Maternal-Fetal Medicine and Surgery and a clinical neuroradiologist at Boston Children’s Hospital.

Dr. Grant founded the FNNDSC in 2009 to develop and optimize tools and analysis streams to better detect and understand both normal and abnormal brain physiology and development. The primary goal is to provide phenotypic and mechanistic information that enables optimization of cognitive, behavioral, and neurological outcomes in children with a focus on fetuses, neonates, infants, and toddlers. Three modalities are being developed in the FNNDSC: Magnetic Resonance Imaging (MRI), Magnetoencephalography (MEG) and quantitative Near Infrared Spectroscopy (qNIRS). She leads a team of MR physicists and engineers doing pulse sequence development and novel MRI analysis at the forefront of fetal and placental MRI. Her team build a novel pediatric specific MEG system that is now FDA approved and provides clinical services for presurgical evaluation of infants and toddlers with epilepsy.

She is a pioneer of frequency domain NIRS (FDNIRS) and diffuse correlation spectroscopy (DCS) which provides quantitative bedside measures of cerebral blood flow and oxygen consumption. To support the computational needs of complex data analysis, her team has developed a sophisticated computational infrastructure in collaboration with RedHat to support deep-learning approaches on large datasets and real time data analysis.

The FNNDSC currently has over 60 members with 17 faculty and 6 postdoctoral students. Dr. Grant is a Senior Fellow of the International Society of Magnetic Resonance in Medicine (ISMRM) and sits on the Board of Scientific Counselors for National Institute of Child Health and Human Development. In 2021 she received the Outstanding Contributions in Research Award from the American Society of Neuroradiology and in 2022 she received the Gold Medal Award from the American Society of Pediatric Neuroradiology. She is currently PI/MPI of 6 NIH grants and her center has over $40M of active funding.

16_LACOMBE Didier

Didier LACOMBE

Bordeaux University Hospital, Bordeaux, France

Didier Lacombe is a pediatrician and a medical geneticist at Bordeaux University Hospital. He is professor of medical genetics since 1995 at the University of Bordeaux and is the Director of a research laboratory dedicated to rare diseases (INSERM unit U1211). He is the coordinator of a national center for reference in birth defects and malformation syndromes since 2004. The INSERM unit U1211 consist of around 50 people. The research is dedicated to genetics and metabolics (energetic mitochondrial and lipid) approaches in rare diseases, mostly on developmental malformation syndromes.

Didier Lacombe has been President of the French College of Medical Genetics (1998-2005), of the University National Council for Genetics at the Ministry of Health (2007-2010), and of the French Federation of Human Genetics (2012-2018). His main interest concern newborn screening and genetic developmental anomalies, including Costello syndrome and Rubinstein-Taybi syndrome, and mitochondrial diseases.

Abstract - Newborn screening of Spinal Muscular Atrophy: A pilot program in France.

Spinal muscular atrophy (SMA) is a neuromuscular genetic disorder characterized by loss of motor neurons from the anterior horn of the spinal cord. Inheritance is autosomal recessive. SMN1 gene is implicated in the survival of the motor neurons. In 95% of cases of the disease, there is a biallelic deletion of exon 7 of SMN1. An homologous gene to SMN1, SMN2, is not functional, because of splicing of exon 7 of SMN2, but the severity of the disease is linked to the number of SMN2 copies. There are four types of SMA and 60% of SMA type 1 die at age 18 months. Recently, three drugs have been evaluated in SMA and have the authorization in France for presymptomatic use up to three copies of SMN2. Nusinersen is an antisense oligonucleotide known to functionalize SMN2 gene. Administration is by regular intrathecal injections. A gene therapy (Onasemnogene abeparvovec, Zolgensma°) is an unique injection. Benefit is better with an early administration of the product, and for this reason, newborn screening has been promoted. A third drug (Risdiplam) is an oral treatment. SMA fullfill the Wilson criteria for newborn screening. Newborn screening for SMA is available in many countries, as Belgium, Germany, Taiwan, USA, Japan, Australia… In France, a pilot project is in process in two areas (Nouvelle Aquitaine and Grand Est). We will test 2 x 55 000 babies/year, whether 32 children expected to be affected in two years. Newborn screening is effective by molecularly testing SMN1 gene biallelic deletion. Biological confirmation will include the analysis of the copy number of SMN2. When the diagnosis is confirmed, the patient will be included in a French « RCP » meeting to discuss the treatment modality. This communication will present the current results of this pilot program.

1_Peter_Laussen

Boston Children's Hospital – Harvard Medical School – Boston, USA

Peter Laussen, MBBS, FANZCA, FCICM, is the Executive Vice President of Health Affairs at Boston Children’s Hospital. An esteemed leader in hospital care, Dr. Laussen oversees the medical delivery system and helps craft the vision for continued growth in technology and pediatric care. He partners with leadership across the hospital on a full range of research, clinical, academic, operational, and strategic issues, while also caring for patients as an Attending in the Cardiac Intensive Care Unit.

Dr. Laussen has been a member of the Boston Children’s team for more than two decades. In 2002, he was appointed Chief of the Division of Cardiovascular Clinical Care and the Dolly D. Hansen Chair in Pediatric Anesthesia. During his first tenure at Boston Children’s, Dr. Laussen was instrumental in the development of “T3” (Tracking, Trajectory, and Triggering), a web-based early warning system that helps ICU staff assess the patient’s physiologic state at their bedside. He also co-founded “Risky Business,” the groundbreaking series of conferences focusing on risk management, patient safety, and safety awareness.

Following his first years of service at Boston Children’s, Dr. Laussen joined the Hospital for Sick Kids (SickKids) in Toronto, as Chief of the Department of Critical Care Medicine, where he oversaw one of the preeminent pediatric critical care programs in the world. Dr. Laussen also served as Associate Senior Scientist in Child Health and Evaluative Sciences at the SickKids Research Institute, where he built one of the largest data science programs in pediatric critical care in the world.

Dr. Laussen returned to Boston Children’s in May 2020, taking on his current role as Executive Vice President of Health Affairs. His research and educational focus are centered on cardiac critical care and anesthesia, and he continues to pass on his knowledge and expertise in the field by serving as an Adjunct Professor of Anesthesia at the University of Toronto, and a full Professor of Anesthesia at Harvard Medical School. 

Dr. Laussen received his medical degree from Melbourne University Medical School, in Melbourne, Australia, and fellowships in anesthesia and pediatric critical care medicine. Throughout his career, Dr. Laussen has achieved significant success in recruitment strategies for new faculty, reduction of Serious Safety Events, development of a sustainable research structure, and growth of world-renowned training programs.

5_Joseph_Nadeau-Headshot-600x600

Maine Health Institute for Research in Scarborough, Maine, USA

Dr. Nadeau is internationally recognized for his work on mouse models of human disease. He has pioneered comparative genomics, genetics and systems studies of mouse models of human disease, with an emphasis on transgenerational epigenetic effects on metabolism and cancer, and most recently on phenotypic ‘noise’ in metabolic systems. His work is contributing to a revolution in the ways that we understand inheritance of phenotypic variation and disease susceptibility. He is a faculty Scientist III at Maine Health Institute for Research in Scarborough, Maine. He is the former chair and James H, Jewell Professor of Genetics at Case Western Reserve University School of Medicine.  He is the founding director of the Mouse Genome Informatics Project and the Mouse Genome Database, founding director of the Ohio GI Cancer Consortium, and founding editor of two research journals, one of which (Systems Biology and Medicine) won the American Publishers Awards for Professional & Scholarly Excellence (PROSE) top award for outstanding scholarly work in all disciplines of the arts and sciences.  The Smithsonian Museum deposited in their permanent collection a copy of the MGI-MGD software as an example of Innovation in Information Technology. Among his recognitions are an National Institutes of Health Pioneer Award and election as Fellow of the American Association for the Advancement of Science.

Abstract - Parsing Disease Complexity: A Phenotype-guided Perspective

What if our ideas about phenotypic variation and disease risk overlook a primary determinant? Fisher’s century-old model, phenotypic variance VP = genetics VG + environment VE + error Ve, continues to guide many areas of biomedical research. But substantial variation is not included in this model. On average, 50% of variability has neither genetic nor environmental origins. We propose that considerable non-genetic and non-environmental variation emerges during development, arising from stochastic noise that triggers probabilistic epigenetic changes, and that once established are deterministically propagated throughout life. These epigenetic changes lead to wide variation in phenotypic outcomes across many traits, in many species, and in health and disease. Clearly, managing disease, even with Precision Medicine approaches, will remain challenging if 50% of risk remains outside the scope of current research. Our ongoing work in humans and model organisms addresses many of the conceptual, study design, technical and analytical challenges. In particular, a focus on variability itself reveals common, clinically relevant cancer and metabolic subtypes that elude discovery with conventional approaches. Together these observations support a phenotype-guided virtuous cycle of human-model organism studies with discovery and experimentation in model organisms integrated with validation and refinement in humans.

Joe Nadeau1, PERMUTE Working Group, Andrew Pospisilik2

1 MaineHealth Institute for Research, Maine Medical Center, Portland, Maine
2 Center for Epigenetics, Van Andel Institute, Grand Rapids, Michigan

8_Mette_Nordahl_Svendsen_2023

Centre for Medical Science and Technology Studies, University of Copenhagen, Denmark

Mette N. Svendsen is a Professor of Medical Anthropology in the Centre for Medical Science and Technology Studies, the University of Copenhagen. She works at the forefront of the integrated study of medicine, health, and society. Since 2017, she has headed the research project MeInWe, which investigates the ethical, organizational, and legal challenges of precision medicine in contemporary healthcare (www.meinwe.ku.dk). She has an extensive publication record in leading international journals and is the author of the book Near Human: Border Zones of Life, Species, and Belonging published by Rutgers University Press.

Abstract - Empowering the Patient in the Precision Medicine Era

In this talk we explore selection practices in precision medicine. Precision medicine holds the great hope of selecting genetically fit medicine for the patient. However, in on-the-ground clinical practices, precision medicine is oriented towards selecting clinically and genetically fit patients for available therapies. Based on ethnographic research in oncology clinics and experimental labs, we show that matching patients with treatment is inseparable from dealing organizationally and morally with the large group of patients identified as unlikely to benefit from personalized cancer therapies. On one hand, precision medicine empowers patients who fit therapies or experimental trials. On the other hand, patients who have contributed their tissue and time to precision medicine, but do not match available therapies feel disempowered. They show us the huge challenges of turning the absence of personalized treatment options into care for patients.

13_Marc_RUBIN_UNIBE_DBMR_0322__P7A2528 small

University of Bern, Bern, Switzerland

Mark A. Rubin, MD, Professor, Principal Investigator, and Director of the Department for BioMedical Research (DBMR), University of Bern, Switzerland. Prof. Mark Rubin is a recognized world-renown leader in prostate cancer genomics and pathology, and precision medicine. Dr. Rubin’s laboratory led a series of landmark studies defining distinct molecular features of prostate cancer, revealing pathways that are perturbed and drive different types of this cancer. Furthermore, Prof. Rubin has translated many of his genomic discoveries into clinical tests that are currently patented and standardly used in the diagnosis and treatment of prostate cancer. Prof. Rubin founded the Englander Institute for Precision Medicine and, more recently, the Bern Center for Precision Medicine (BCPM).

qSchiff_Manuel_0

Necker University Hospital, Paris, FRANCE

Manuel, MD, PhD is a Professor of Paediatrics at the Reference Centre for Inborn Errors of Metabolism at Necker University Hospital and Imagine Institute, Paris. After an undergraduate degree in Biochemistry and a residency in Paediatrics, he completed a PhD in mitochondrial biology, under the supervision of Dr Pierre Rustin at the University of Paris Descartes. He then was a post-doctoral fellow at Dr Jerry Vockley’s laboratory at the University of Pittsburgh, USA. His clinical research interests include mitochondrial energy metabolism and homocysteine metabolism disorders for which he is a partner in the European collaborative network EHOD. His basic research projects include mitochondrial energy metabolism within the mitochondrial disease genetics lab directed by Agnès Rötig in the Paris Necker Imagine Institute. Manuel is a partner of the European ERA PerMed JTC2019 projects PerMiM focusing on personalized medicine in mitochondrial disease coordinated by Dr Holger Prokisch (Helmholtz Zentrum München, Germany). Gene therapies for maple syrup urine disease in mouse is the other research project for which Manuel’s research group has obtained nice preclinical results paving the way to potential future clinical trials in patients.

Manuel is coordinating the national reference centre for mitochondrial diseases (CARAMMEL) at Necker hospital and is the chair of the Society for the Study of Inborn Errors of Metabolism (SSIEM).

Sarah_WAMALA_ANDERSSON

Mälardalen University, Västerås, SWEDEN

Dr. Sarah Wamala Andersson is a distinguished thought leader in digital health and currently serves as a Professor of Health and Welfare Technology at Mälardalen University. Her research focus on the real-world implementation of AI solutions and digital health technologies within healthcare and social care systems. She evaluates policies and reimbursement models, and she generates evidence to demonstrate the value and effectiveness of digital health technologies, particularly through the lenses of equity, ethics, and sustainability.

In her academic role, she is also involved in mentoring, teaching and supervising Master’s and PhD students in areas related to digital transformation in health and social care.

Sarah holds a PhD in Medical Sciences from Karolinska Institutet and a Master’s degree in Biostatistics from Stockholm University. She has also completed postdoctoral studies at the Wellington School of Medicine in New Zealand and the Stanford Executive Program in the USA. Additionally, she has studied economics at Makerere University and epidemiology in both UK and USA.

Her career includes executive leadership roles, such as serving as the Swedish Government as Director General of the Swedish Public Health Institute and as a Professor of Health Policy at Karolinska Institutet. She also has experience in the pharmaceutical industry, having worked as a Principal Real-World Scientist at a global pharmaceutical company.

Sarah is widely published and leads several international research initiatives. She is a frequent keynote speaker at global conferences, where she shares her insights on digital health and the future of healthcare systems.

Abstract - Digital Transformation and Social Determinants of Health: Beyond Disparities

As global life expectancy continues to rise, maintaining good health has become an increasingly sought-after goal for many, with technological advancements offering promising solutions. Digital Health Technologies (DHTs) have the potential to revolutionize healthcare by enabling virtual care, remote monitoring, improved disease management, and more personalized treatment options (1).

DHTs encompass telemedicine, mobile applications, wearable devices, electronic health records, and artificial intelligence (AI). These technologies facilitate real-time data collection on patients’ vital signs, lifestyles, and medical histories, supporting more effective care pathways, personalized treatments, and predictive healthcare. Moreover, DHTs and AI have the potential to reduce healthcare costs while simultaneously improving the quality of care.

However, one significant barrier to fully leveraging the potential of DHTs is digital health literacy. Without sufficient understanding of how to use these technologies, their value in transforming healthcare cannot be fully realized, hindering efforts toward achieving digital health equity. Additional challenges include insufficient research-based evaluations, skepticism, resistance to change, and limited access to digital tools (2). Digital health literacy is a multifaceted concept, requiring a comprehensive approach to ensure better outcomes.

Policymakers, healthcare professionals, and technology developers are increasingly recognizing that the successful adoption of technology and innovation in healthcare demands more than just financial investment. It also requires a focus on usability and accessibility.

The future of healthcare delivery is expected to shift towards empowering patients to take control of their health management through the use of DHTs, facilitating better communication with healthcare providers and professionals. The World Health Organization (WHO) has underscored the importance of developing and implementing digital health technologies in ways that promote equity, affordability, and accessibility. In its Regional Digital Health Action Plan 2023-2030, the WHO highlights Digital Health Literacy (dHL) as a critical factor in achieving universal health coverage and ensuring that all populations benefit from digital health solutions.

The WHO defines dHL as the ability to seek, find, understand, and appraise health information from electronic sources, and to apply that knowledge to solve health-related problems (2). Achieving dHL is therefore essential for both patients and healthcare professionals, enabling them to effectively access, evaluate, and apply health information from digital platforms. This requires not only technical skills for operating digital tools but also cognitive skills for interpreting and communicating health data. Consequently, digital health literacy should be incorporated into lifelong learning initiatives.

This paper aims to underscore the significance of dHL, identify existing research gaps, share lessons from the IDEAHL EU project, and explore strategies for accelerating digital transformation in healthcare.

 

2_Winkler_Eva_60335

University Hospital Heidelberg, Heidelberg University, Heidelberg, GERMANY

Eva Winkler has two professional careers: in Medical Ethics and in Oncology. She is the Head of the Section for Translational Medical Ethics, University Hospital Heidelberg (UKHD), Heidelberg University. She is also a member of the Board of Directors of the National Center for Tumor Diseases, Heidelberg and works as a senior physician and specialist in hematology/oncology in the Department of Medical Oncology at UKHD.

Eva Winkler holds a doctorate in cancer research from Heidelberg University / German Cancer Research Center (DKFZ) and a PhD in medical and health ethics from the University of Basel, Switzerland (with distinction). She spent two years of her medical ethics training as part of two fellowships in the Division of Medical Ethics at Harvard Medical School and as a faculty fellow at the Center for Ethics and the Professions at Harvard University / Kennedy School of Government.

Eva Winkler’s research focuses on empirically informed applied ethics. Areas of research are:

  • Research Ethics: ethical questions of precision medicine, genome sequencing and editing; overall ethical questions of translation between research and healthcare
  • Clinical Ethics: especially decisions at the end of life, organizational ethics
  • Public Health Ethics: resource allocation, secondary use of health data

As vice president of the Academy for Ethics in Medicine (German Society for Ethics in Medicine) and elected chairwoman of the Central Ethics Commission of the Federal Medical Association (ZEKO) Eva Winkler is committed to further advance and professionalize medical ethics and shape the discipline and its contribution to research, the healthcare system and politics.

Eva Winkler is an invited expert in important national, European and global initiatives for research-enabling infrastructures. She is the Ministry of Health appointed representative for the European Initiatives on Genomic Data Infrastructure (GDI) and 1+Million Genomes (EU) and member of the Scientific Advisory Board of the National Cohort Study (NAKO) and the Cancer Registries united at the Robert Koch Institute (RKI).

Additionally, Eva Winkler is the scientific director and spokesperson for EURAT (interdisciplinary platform for Ethical and Legal Aspects of Translational Medicine) in Heidelberg (www.eurat.info).

 

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