PRECISION MEDICINE
AND THE FUTURE
OF GENOMICS
PMFG SUMMIT 2025

Dr. Ambroise Wonkam

Johns Hopkins University

Dr. Ambroise Wonkam is Professor of Genetic Medicine and Director of the McKusick-Nathans Institute at Johns Hopkins University School of Medicine. Trained as a medical geneticist in Geneva, Switzerland, he holds a Ph.D. in human genetics from the University of Cape Town and has practiced medical genetics across both Europe and Africa.

Author of over 250 peer-reviewed publications, Dr. Wonkam’s research focuses on genetic modifiers of sickle cell disease, the genetics of hearing loss, and ethical issues in human genetics. He leads several major NIH- and Wellcome Trust–funded projects, including the Sickle Africa Data Coordinating Centre (SADaCC), HI Genes Africa, IFGENERA, and PUBGEM-Africa. His work spans multiple African countries and supports continental capacity-building in genomics. He has received numerous awards, including the HUGO African Prize, the Alan Pifer Award, and the South African Medical Research Council Gold Medal. Dr. Wonkam serves on editorial boards of leading journals and holds leadership roles with the African Society of Human Genetics, H3Africa, and G2MC.

Dr. David Bick

Genomics England

David Bick MD is the Principal Clinician for the Newborn Genomes Programme at Genomics England.  Prior to his work in England, he was the Chief Medical Officer and a faculty investigator at the HudsonAlpha Institute for Biotechnology.  Dr. Bick also served as the Medical Director of the Smith Family Clinic for Genomic Medicine located on the campus of HudsonAlpha Institute for Biotechnology and the Laboratory Director of the HudsonAlpha Clinical Services Laboratory.

He came to HudsonAlpha from the Medical College of Wisconsin where he was Professor in the Department of Pediatrics and the Department of Obstetrics & Gynecology at the Medical College of Wisconsin.  At the Medical College of Wisconsin he was the Director of the Clinical Sequencing Laboratory, Director of the Advanced Genomics Laboratory at Children’s Hospital of Wisconsin, Medical Director of the Genetics Clinic at Children’s Hospital of Wisconsin, and Chief of the Division of Genetics in the Department of Pediatrics at Medical College of Wisconsin. 

Dr. Bick received his medical degree from George Washington University School of Medicine in 1981 and completed his residency in Pediatrics at Yale-New Haven Hospital in New Haven, CT.  At the Yale University School of Medicine, Dr. Bick completed a fellowship in Human Genetics and Pediatrics in 1986, followed by a post-doctoral research fellowship in Human Genetics in 1987.  Dr. Bick is board certified in Pediatrics, Clinical Genetics, and Clinical Molecular Genetics.

He is a leader in the field of genomic medicine and has published numerous peer-reviewed articles, chapters, and reviews.  Dr. Bick’s laboratories at the Medical College of Wisconsin and Children’s Hospital of Wisconsin were the first in the world to offer whole genome sequencing as a clinical test.  He also developed the first Genomic Medicine Clinic in the United Stat

Dr. Edison Liu

Jackson Laboratory

Edison Liu, M.D. is professor and special fellow of The Jackson Laboratory (JAX), an independent research institute focused on complex genetics and functional genomics situated in Maine, Connecticut, and California. Previously, he was president and CEO of The Jackson Laboratory, and Director of its NCI designated Cancer Center. Before that, he was the founding executive director of the Genome Institute of Singapore, the president of the Human Genome Organization (HUGO), the scientific director of the National Cancer Institute's Division of Clinical Sciences in Bethesda, Md., and professor of medicine, genetics, biochemistry, and epidemiology at the University of North Carolina, Chapel Hill. Dr. Liu is an international expert in cancer biology, systems genomics, human genetics, molecular epidemiology and translational medicine with a focus on human breast cancer. He has authored over 340 scientific papers, reviews and books, and is a frequent commentator on the impact of technologies in the biosciences and medicine. He obtained his B.S. in chemistry and psychology, as well as his M.D., at Stanford University; his advanced training in medicine and oncology at Washington University, St. Louis, and Stanford, and post-doctoral training in molecular oncology at the University of California at San Francisco. Dr. Liu has received numerous awards, and is an elected member to the American Society of Clinical Investigation, a foreign member of the European Molecular Biology Organization, and a Fellow of the American Association for the Advancement of Science (AAAS).

Dr. Carlo Giaquinto

Penta Foundation

Dr. Carlo is the President of Penta Foundation. Full Professor of Paediatrics at the Department for Woman’s and Child’s Health of the University of Padova, Director of the PhD Course in Developmental Medicine and Health Planning Sciences and President of Fondazione Penta. His main interests are Paediatric Infections, Vaccinology and Clinical Trials in Children. Since 1990 he has been involved as scientific coordinator in more than 15 large EU funded projects.

At present he coordinates more than 20 international projects, including trials in developing countries. He is also the scientific leader of c4c, the largest paediatric IMI2 funded project, aiming to set up a European Paediatric Clinical trial platform.
He is the Author/Co-Author of more than 300 publications published in peer-reviewed and invited as speaker at about 400 conferences and international workshops across the world. Carlo Giaquinto was also awarded by the European Society for Paediatric Infectious Diseases (ESPID) of the 2017 Bill Marshall Award.

Dr. Wadha Al Muftah

Qatar Genome

Dr Wadha Al Muftah is a physician-scientist and one of the founding leaders of the Qatar Genome Programme, where she has been instrumental in advancing Qatar precision health agenda. She currently serves as Chief Medical & Operations Officer at Qatar Precision Health Institute, leading strategy and operations across precision health initiatives.

At Qatar Genome, Dr Al Muftah has driven the realization of the program strategic objectives, leading the development of frameworks for the responsible return of genomic findings, grounded in sound science and ethical principles. She has also launched pioneering genome interpretation projects and advanced reporting solutions. She also leads clinical projects integrating genomic discoveries into clinical practice and strengthening knowledge transfer to the wider community. Working closely with partners including Hamad Medical Corporation, Sidra Medicine, and Primary Healthcare Corporation, she has spearheaded studies such as the impact of pharmacogenetics testing on cardiovascular drugs.

With over a decade of research experience, Dr Al Muftah has authored multiple publications, presented at international conferences, and contributed to advancing regional and global genomics. She also serves on national health committees, including the Advisory Committee for Biomedical Sciences Programs at Qatar University and the National Health Strategy 3.

Dr. Hakon Hakonarson

CHOP

Director, Center for Applied Genomics

Dr. Hakonarson is director of the Center for Applied Genomics and professor of Pediatrics at the Perelman School of Medicine, University of Pennsylvania. He leads a $40 million commitment from Children’s Hospital of Philadelphia to genomically characterize approximately 100,000 children, an initiative that has gained nationwide attention in the Wall Street Journal, New York Times, Time Magazine, Nature, and Science.

Dr. Tawfeg Ben Omran

Sidra Medicine

Dr. BEN-OMRAN is a senior consultant and Division Chief, Genetic and Genomic Medicine at Sidra Medicine and Hamad Medical Corporation. He is a Professor at Weill Cornell Medical College, Qatar & New York-USA. He is also a Distinguished Visiting Scientist at Boston Children’s Hospital-USA.

He contributes to the body of published knowledge in clinical and metabolic genetics, with over 200 published articles in peer reviewed journals, book chapters and abstracts. He is reviewer for many clinical genetics journals.

He is an active clinical researcher, collaborating on projects with local, regional & international communities. He is a lead primary investigator in many high profile research projects & clinical trials.

Dr. Patrick Tan

PRECISE

EXECUTIVE DIRECTOR, PRECISE

Prof. Patrick Tan is the Executive Director of PRECISE, overseeing Singapore’s National Precision Medicine (NPM) strategy. NPM aims to transform healthcare in Singapore and improve patient outcomes through new insights into the Asian genome and data-driven healthcare solutions. He is also Dean (Designate) and Provost’s Chair in Cancer and Stem Cell Biology at Duke-NUS Medical School, Singapore.

He received his B.A. (summa cum laude) from Harvard University and MD PhD degree from Stanford University, where he received the Charles Yanofsky Prize for Most Outstanding Graduate Thesis in Physics, Biology or Chemistry. Other awards include the President’s Scholarship, Loke Cheng Kim Scholarship, Young Scientist Award (A-STAR), Singapore Youth Award, Chen New Investigator Award (Human Genome Organisation), President’s Science Award, and the Japanese Cancer Association International Award.

He has received the American Association for Cancer Research (AACR) Team Science Award as Team Leader, and the Genome Valley Excellence Award by the Government of Telangana (India). He is a member of the American Society for Clinical Investigation (ASCI), Association of American Physicians (AAP), the Singapore Bioethics Advisory Committee (BAC), a Board Member of the International Gastric Cancer Association, Global Alliance for Genomics and Health (GA4GH), Board of Editors for Science and Cancer Discovery, and an advisory member for Qatar Precision Health Institute.

Dr Yan LI

BGI

With 13 years in genetics and multiomics studies of human complex traits, Dr Yan LI earned her PhD at the University of Hong Kong (supervised by PLINK pioneer Prof. Pak Sham), proposing two lumbar disc degeneration pathogenic mechanisms.

She later worked as an exchange scholar at Harvard-MIT’s Broad Institute (Dr. Benjamin Neale) on cross traits analysis.

At BGI, she identified longevity genes, uncovered schizophrenia-longevity genetic trade-offs, and developed methods for organ biological age estimation and health evaluation via omics data.
Her current focus is on new age-related biomarkers and health-aging assessment technologies.

Dr. Ma’n Zawati

McGill University

Ma’n H. Zawati (LL.B., LL.M., Ph.D. (DCL)) is the Executive Director of the Centre of Genomics and Policy in the Department of Human Genetics at McGill University. He is also an Associate Member of McGill¹s Biomedical Ethics Unit. His research concentrates on the legal, ethical and policy dimensions of health research and clinical care, with a special focus on biobanking, data sharing, professional liability, and the use of novel technologies (e.g. mhealth apps, WGS, WES) in both the clinical and research settings. Dr. Zawati is funded by CIHR, Genome Canada, and Genome Quebec. His work is interdisciplinary, drawing together perspectives from law, ethics, bioinformatics, genomics, and policy. He¹s also a frequent
presenter on a variety of the most critical and topical issues in healthcare and the biosciences. He has appeared at 100+ international conferences, symposia, meetings, and has shared his expertise with universities, research ethics boards and law firms. Dr. Zawati has published 13 book chapters and 45+ peer reviewed articles in leading publications such as Nature Reviews Genetics, the Canadian Medical Association Journal, the Journal of Law and the Biosciences, the Journal of Medical Genetics, and the McGill Journal of Law and Health. In 2015, he
was awarded the Queen Elizabeth II Diamond Jubilee Scholarship (stay at Oxford University) and was named a Royal Society of Canada Delegate for the IAP Young Scientists of the Year international symposium. In 2014, the Young Bar Association of Montreal named him as one of its Lawyers of the Year.

Dr. Andrew Singleton

NIH

Center for Alzheimer's and Related Dementias (NIH)

Research Topics
Dr. Andrew Singleton has published more than 700 articles on a wide variety of topics. He is the Director of the Center for Alzheimer’s and Related Dementias within the Intramural Research Program, in addition to being Chief of the Molecular Genetics Section within the Laboratory of Neurogenetics. Singleton’s group works on the genetic basis of neurological disorders including Parkinson's disease, Alzheimer’s disease, dystonia, ataxia, dementia with Lewy bodies, and amyotrophic lateral sclerosis (ALS). His team seeks to identify genetic variability that causes or contributes to disease and to use this knowledge to understand the underlying molecular processes. Dr. Singleton’s group discovered a number of genetic mutations that cause disease, including the alpha-synuclein multiplication mutation and mutations in LRRK2. Dr. Singleton was a founding member of the International Parkinson Disease Genomics Consortium, and the Global Parkinson’s Genetics Program. His laboratory has identified the majority of the known genetic risk factors for Parkinson disease.

Biography
Dr. Singleton received his B.Sc. from the University of Sunderland, UK and his Ph.D. from the University of Newcastle upon Tyne, UK. His postdoctoral studies were spent at the Mayo Clinic in Jacksonville Florida. Andrew moved to the National Institute on Aging at NIH Bethesda, MD in 2001 and became a principal investigator leading the Molecular Genetics Unit in 2002. In 2007 he became a tenured senior investigator at the National Institute on Aging, in 2008 he was named the Chief of the Laboratory of Neurogenetics, and in 2016 he was honored as an NIH Distinguished Investigator. While still leading the Molecular Genetics Section, in 2021 he stepped down as the Chief of the Laboratory of Neurogenetics and became the Director of the Center for Alzheimer's and Related Dementias.

Dr. Singleton currently serves on the scientific advisory board of the Lewy Body Dementia Association; he is a member of the editorial boards of Neurodegenerative Diseases, Neurogenetics, Movement Disorders, (Associate Editor), Lancet Neurology, the Journal of Parkinson's Disease, NPJ Parkinson's Disease (Associate Editor), and the Journal of Huntington's Disease. Dr. Singleton was awarded the Boehringer Mannheim Research Award in 2005, the NIH Director's Award in 2008 and again in 2016, and the Annemarie Opprecht Award for Parkinson's disease research in 2008. In 2012 Dr. Singleton became the first person to win the Jay van Andel Award for Outstanding Achievement in Parkinson's Disease Research. In 2017 he was awarded the American Academy of Neurology Movement Disorders Award and an Honorary Doctorate from his alma mater, the University of Sunderland.

Dr. Molly He

CEO, Elements BioSciences

CEO, Co-Founder, and Board Member

Dr. Molly He is the CEO and co-founder of Element Biosciences, a multi-disciplinary life science company democratizing access to advanced DNA and multiomic sequencing solutions. Since the inception of Element in 2017, Molly and her team have raised over $600M+ to fund the development, manufacturing, and commercialization of disruptive sequencing tools, including AVITI and AVITI24. Molly has won numerous awards including the prestigious Forbes 50over50 in 2023, and CNBC Changemaker in 2024. Previously, Molly was a Venture Partner at Foresite Capital Management. Prior to Foresite, Molly served as a Senior Director at Illumina, where she was responsible for global protein reagent innovation and improvements. She led her team to twice win the Innovation Award, the highest award for innovations with significant revenue impact at Illumina. Before Illumina, Molly was the Head of Protein Sciences at Pacific Biosciences, responsible for protein reagent development to improve the accuracy of their single molecular real time sequencing chemistry. Molly is a prolific inventor with more than one hundred patent applications, including many in the field of genomics and protein sciences. Molly holds a PhD from UCLA in protein biophysics.

Dr. Ilyas Khan

Quantinuum

Ilyas founded Cambridge Quantum in 2014 and was the founding CEO of Quantinuum, the company created as a result of the merger of Honeywell Quantum Solutions and Cambridge Quantum. As well as being Vice-Chairman of the board of directors, he is also the Chief Product Officer of Quantinuum and part of the executive leadership team of the company.

He is the Leader in Residence at the University of Cambridge’s Judge Business School where he was instrumental in establishing the highly regarded Accelerate Cambridge program of investment in early-stage Cambridge-based deep-science technology sector companies.

Ilyas was the inaugural Chairman of The Stephen Hawking Foundation, holding the post until 2019. He is also the founding Chairman (non-executive) of the Topos Institute. He is also a fellow of St Edmund’s College, Cambridge. Ilyas is recognised as one of the founders and leading voices in the quantum computing industry globally.

Dr. Neil Ward

VP and GM of PacBio

VP and GM
PacBio

Neil Ward serves as PacBio's Vice President and General Manager for Europe, the Middle East, and Africa, driving the adoption of advanced long-read sequencing technologies across the region. Before joining PacBio in 2021, Neil distinguished himself during a 13-year career at Illumina as Senior Sales Director for Northern Europe, where he managed partnerships with world-renowned genomics initiatives including UK Biobank, Genomics England, deCODE genetics, and the Estonian Biobank. With a career spanning both technical and commercial roles, Neil has contributed his expertise to leading organizations including Agilent Technologies, Silicon Genetics, Oxford Biomedica, and Celltech. His unique combination of scientific knowledge and business leadership is built on a strong academic foundation—a Master's degree in Bioinformatics and a Bachelor's degree in Biochemistry from the University of Manchester—positioning him at the intersection of genomic innovation and its practical applications in addressing complex health challenges.

Dr. Ana Cvejic

University of Copenhagen

Ana Cvejic is Professor at the University of Copenhagen and Group Leader at the Biotechnology Research and Innovation Centre (BRIC), Denmark. Her pioneering research lies at the forefront of molecular hematology, with a particular focus on the molecular mechanisms governing blood stem cell fate decisions. Bridging molecular biology, genetics, and systems biology, her work uniquely integrates cutting-edge experimental approaches with large-scale multiomics data analysis. Professor Cvejic obtained her PhD in Biochemistry from the University of Bristol before undertaking postdoctoral research at the University of Cambridge and the Wellcome Trust Sanger Institute. In 2012, she was awarded a prestigious Cancer Research UK Career Development Fellowship, which enabled her to establish her independent research group at the University of Cambridge, where she led her laboratory from 2012 to 2022. Her outstanding contributions to the field have been widely recognized through numerous honors, including the European Hematology Association Young Investigator Award, the EMBO Young Investigator Award, and election to EMBO membership. She is also the recipient of highly competitive grants, among them the European Research Council Starting and Consolidator Grants, the Novo Nordisk Foundation Young Investigator Award, and the Danish National Research Foundation Chair Grant.

Dr. Maha Zaki

National Research Centre (NRC)

Maha S. Zaki (MD)

Emeritus Professor, Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.

• Graduated from Cairo University in 1984, joined the National Research Centre, Genetics Department in 1986. Master's degree (MSc) in Pediatrics in 1991 and Doctoral (MD) in 1998. Professor of Clinical Genetics at the NRC in 2009, head of the Clinical Genetics Department for 4 years, and emeritus professor since 2021. The main specialties are Neurogenetics and Clinical Genetics. Founded the first Neurogenetics clinic at the Medical Services (2004) Unit and then the Centre of Excellence for Medical Research at the NRC (2013). Has many collaborations with the Middle East, Europe, and the USA. Her H-index is 50, with 285 publications in distinguished journals, with a remarkable participation. Was chosen in 2016 to be one of the original proposers of the European Network of Brain Malformations, which has been awarded by the European Cooperation in Science and Technology (COST) a network grant under the code CA16118 as a representative from Africa and the Middle East, outside Europe. Also, selected to be a member of the SPATAX Network (in 2013), a worldwide network for hereditary spastic paraplegia and ataxia. Participated in inventing many new genes for Joubert syndrome, microcephaly, cerebellar atrophy, pontocerebellar hypoplasia, intellectual disability, and many other genetic diseases. Delineated new recessive syndromes such as Zaki syndrome, published in the New England Medical Journal, and Zaki-Gleeson syndrome, and assigned a new autosomal recessive developmental brain defect found in Egyptian patients (DMJD). Awarded two of the top Awards in Egypt: The State Appreciation Award in Science and Advanced Technology for Medical Science in 2018, and The State of Science Excellency in Medical Science in 2011.  Alnodra Award for Outstanding Achievements in Rare Disease by Sheikh Nahyan bin Mubarak Al Nahyan, Minister of Tolerance and Coexistence, 2023. The Research Excellence Awards 2018, the Best Researcher Award from Egyptian Knowledge Bank (EKB) and Clarivate analysis, Misr Elkheir Awards, and many appreciations from NRC for the highest score of publications.  

Dr. Mohamed Abdelbaki

Washington University

A CureSearch Catapult awardee at Washington University School of Medicine in St. Louis, is conducting a phase I clinical trial using a Natural Killer (NK) cell therapy for children and young adults with recurrent brain tumors. NK cells are immune cells that can recognize and kill cancerous cells and have shown promise in treating several cancers. However, their widespread use has been limited due to production challenges and the ability of brain tumors to escape killing by secreting an immunosuppressive molecule known as transforming growth factor-beta (TGFβ). Dr. Abdelbaki and his team have established an NK cell therapy that overcomes these obstacles. They have developed a method for producing large numbers of NK cells from healthy donors and by chronically stimulating the cells with TGFβ, they have enhanced their function and made them resistant to the effects of TGFβ in the body. This ‘off-the-shelf’ cell therapy reduces the cost and eliminates barriers associated with manufacturing cells on a patient-by-patient basis, making a potentially superior treatment option more widely available to patients.

In this CureSearch-funded clinical trial, 24 children and young adults with recurrent brain tumors will receive infusions of the enhanced NK cells directly into the surgical cavity following tumor removal. This approach bypasses the blood-brain barrier and treats the tumor more effectively by concentrating the NK cells inside the tumor site. The team will also study how long the NK cells remain active in the brain and how this affects the overall response to treatment. This trial will be conducted through the Pacific Pediatric Neuro-Oncology Consortium (PNOC), making it the first multi-institutional consortium-wide study to evaluate the safety and efficacy of intra-tumoral NK cell infusions in children with recurrent brain tumors.

Dr. Barry Solaiman

Hamad Bin Khalifa University

Dr. Barry Solaiman is an Assistant Dean of Student Affairs and an Assistant Professor specialising in healthcare law and constitutional law. He holds a PhD in Law from the University of Cambridge, Faculty of Law and is a Fellow of Harvard Medical School’s Center for Bioethics. He also serves as a Governor of the World Association for Medical Law (WAML)

At Hamad Bin Khalifa University, he is the Lead Principal Investigator for a multidisciplinary grant developing guidelines for the use of AI/Machine Learning in healthcare research. At Weill Cornell Medicine-Qatar, he serves as an Adjunct Assistant Professor of Medical Ethics in Clinical Medicine and Co-Director of the Intersection of Law & Medicine Series, accredited by the Ministry of Public Health in Qatar and ACCME in the United States

He is co-editor of a major forthcoming book titled ‘AI, Health and the Law ’ (to be published in 2024), which will be a prominent book in the field. His publications are in leading journals, and his research has been presented globally. He has served as Editor-in-Chief of both the Cambridge International Law Journal and the Medicine and Law Journal

Dr. Sri Chunduru

CSO, EveryONE Medicines

Sri has over 25 years of industrial experience in drug discovery and drug development across various disease therapeutic areas including rare-oncology. Throughout his career, he led the advancement of project portfolios from early discovery through Phase 3 clinical development. He has deep knowledge in conceptualizing ASO-based therapies and managing ASO pipelines. Prior to joining EveryONE Medicines, Sri worked in scientific leadership positions at Idera Pharmaceuticals and TetraLogic Pharmaceuticals. He established and led several research and translational collaborations in the US, China, and Europe. He was also a member of the business development team and was involved in licensing clinical assets.
Sri earned his Ph.D. in Biochemistry from the University of Akron. He then did his post-doctoral fellowship at St. Jude Children’s Research Hospital in pediatric cancer and at the University of Pennsylvania in autoimmune diseases. He has co-authored 30 publications and is listed as an inventor in several U.S.-issued patents.

Dr. Hamdi Mbarek

Qatar Precision Health Institute

Dr. Mbarek is the Research and Partnerships Director of QPHI. He joined Qatar Genome Program in January 2019 as Research and Partnerships Manager and was appointed as Director of Research and Partnerships in January 2024.

Dr. Mbarek possesses a well-established background in genetic analyses, specializing in the study of complex traits, molecular genetics, and the intricate relationships between human traits, diseases, and genetics. His expertise extends beyond traditional genetics, showcasing a well-established proficiency in study design, analysis, and the dissemination of scientific findings.

Dr. Mbarek holds a PhD in molecular and cellular biology from the University of Évry Val d'Essonne in Paris, France.

His postdoctoral research, conducted in Japan and the Netherlands, focused on the genomics of complex diseases and the genetics of psychiatric diseases and addiction, showcasing his international expertise and commitment to advancing scientific knowledge. Dr. Mbarek has significantly contributed to the field, co-authoring over 100 high-impact papers, reviews and book chapters. He has extensive experience in establishing, running, and overseeing research consortia and collaborations. He was an assistant professor at the VU University in Amsterdam. He was also a faculty member at the Biological Psychology department at VU University and his teaching portfolio includes classes on human molecular genetics, omics, and twin research.

Dr. Ibrahim Janahi

CMO, Sidra Medicine

Prof. Ibrahim Janahi is the Chief Medical Officer at Sidra Medicine where he is responsible for ensuring high-quality patient care and upholding clinical excellence and patient safety programs that align with our medical strategies.

In addition to this role as the CMO, Prof. Janahi is also the Chair of Medical Education, Designated Institutional Officer and the Division Chief of Pulmonology at Sidra Medicine.

As the Chair of Medical Education, Prof. Janahi is responsible for all medical education programs at Sidra Medicine. This includes the coordination of undergraduate and graduate medical training, monitoring the Continuous Medical Education (CME) and Continuing Professional Development (CPD) of senior medical staff.

Prof. Janahi oversees the extended fellowship programs including accredited residency programs from the Accreditation Council for Graduate Medical Education – International (ACGMEI), a body directly aligned with ACGME, which is responsible for accrediting the majority of graduate medical training programs for physicians in the United States.

Prof. Janahi’s remit also focuses on cultivating interdisciplinary programs, an effective and efficient way of medical and health practice, as part of Sidra Medicine’s joint accreditation with the Accreditation Council for Continuing Medical Education (ACCME), a prestigious accreditation body from the US, designed for physicians, nurses, pharmacists and allied health professionals.

Prof. Janahi’s area of clinical expertise includes interventional pulmonology, chronic lung diseases with genetic basis and rare lung diseases in children. His research interest includes primary ciliary dyskinesia, pulmonary hypertension in children, and genetic basis of lung diseases and non-invasive monitoring of airway inflammation.

Prof. Janahi joined Sidra Medicine from Hamad Medical Corporation, where he was the consultant pediatric pulmonologist and established the pediatric pulmonology section in 2001. He was also acting as the director of the pediatric emergency center from 2001 till 2008.

In addition to his current responsibilities at Sidra Medicine, Prof. Janahi is a Professor of Clinical Pediatrics at Weill-Cornell Medicine in Qatar. He is the founder and president of Gulf Society for Pediatric Respirology and a founding member of the Arab Pediatric Pulmonology Association (APPA). He is a member of the exam committee of the Arab Board and an examiner for many certifying boards and qualifying examinations including the Royal College of Pediatrics and Child Health of the United Kingdom.

Dr. Claudia Langenberg

Queen Mary University

Claudia is the Director of the Precision Healthcare University Research Institute (PHURI) at Queen Mary University of London and a visiting scientist at the MRC Epidemiology Unit. Until August 2022, she served as Programme Leader and co-led the Aetiology and Mechanisms of Diabetes and Related Metabolic Disorders of Later Life program alongside Professor Nick Wareham.

She leads research teams in both London (PHURI) and Berlin (BIH), and also serves as a Consultant in Public Health with the UK Department of Health and Social Care and Barts Health NHS Trust. Her research focuses on the genetic regulation of human metabolism, and she has pioneered the integration of large-scale molecular and clinical data to systematically map genetic effects across tissues and organs—advancing our understanding of the biological underpinnings of complex diseases.

www.omicscience.org

Dr. Calum MacRae

Brigham and Women’s Hospital

Calum MacRae is Vice Chair for Scientific Innovation at the Department of Medicine at Brigham and Women’s Hospital and Associate Professor of Medicine at Harvard Medical School. He is the leader of One Brave Idea, a group of leading scientists from multiple disciplines working together to understand the earliest stages of coronary heart disease (CHD). His clinical interests include the management of inherited heart disease and cardiac involvement in systemic diseases.

MacRae is a cardiologist, geneticist and developmental biologist who received his M.D. and Ph.D. from Edinburgh and London before coming to Boston in 1991. He completed postdoctoral fellowships in human genetics with Drs. Christine and Jon Seidman and in developmental biology with Dr. Mark Fishman, and received additional clinical training in internal medicine and cardiology before joining the Division of Cardiology at Massachusetts General Hospital in 2001. MacRae is a leading investigator at the Brigham and Women’s Hospital Genomics Center, a principal faculty member at the Cardiovascular Research Center and the Harvard Stem Cell Institute, and an associated member at the Broad Institute.

Dr. Olivier Elemento

Weill Cornell Medicine

The Elemento Lab is at the forefront of computational cancer research, integrating Big Data analytics with experimental biology to transform how cancer is prevented, diagnosed, and treated. With a foundation in high-throughput technologies—including ultrafast DNA sequencing, proteomics, and AI-driven analysis—the lab leverages advanced computational tools, such as high-performance computing and mathematical modeling, to investigate the complexities of cancer biology. A key focus is the systems biology of regulatory networks, particularly in hematologic malignancies like lymphomas and leukemias. By combining ChIP-seq, RNA-seq, and computational modeling, the lab aims to uncover the differences in gene regulation between healthy and cancerous cells.

In addition to exploring the genomic and epigenomic landscapes of cancer, the Elemento Lab develops innovative algorithms to support precision oncology, early cancer detection, and understanding tumor evolution. Projects include identifying novel cancer mutations, exploring the role of 3D chromatin architecture in mutational hotspots, and deciphering the functions of epigenetic regulators commonly mutated in cancer. The lab also applies machine learning techniques to detect cancer at its earliest stages, with practical applications such as a thyroid cancer detection algorithm now licensed by Prolias Technologies. Complementing these efforts, the lab creates widely adopted computational tools like ChIPseeqer to facilitate the analysis of complex genomic data, continually pushing the boundaries of personalized cancer research.

Dr. ReemAlsulaiman

Hamad Medical Corporation

Dr. Reem is the Chairperson, Medical Genetics Department at Hamad Medical Corporation (HMC) and Consultant in Genetic Counseling in Oncology.

In addition to her clinical and leadership roles in medical genetics, Dr. Reem is also the assistant chair of rare disease MDT and research committee (Doha-Heidelberg) at HMC, the vice president of Qatar Network of medical genetics, and a member of Qatar Precision Medicine Institute's (QPMI) Clinical Council and member of the National Qatar Genome Project Committee (QGP).

Dr. Reem had completed her clinical training and fellowship in genetic counseling at Sarah Lawrence College in New York was trained in different subspecialties of genetics, including prenatal, pediatrics, and adult genetics, focusing on cancer genetics main area of interest. 
Dr. Reem was trained in multiple prestigious institutions in the USA, including Memorial Sloan Kettering, New York-Presbyterian, and Columbia Medical Centre in New York.

Dr. Reem then gained the American board of genetic counseling and became the first Qatari national board-certified genetic counselor in the country.  Dr. Reem also received her Ph.D. in cancer counseling and psychotherapy from the University of Wales, Regents College in London; her research was honored as one of the 100 breakthroughs in the UK in 2018. Dr. Reem has multiple prestigious publications in pediatric and adult clinical and cancer genetics , particularly in rare disorders.

Dr. Ugur OZBEK

IBG Izmir Biomedicine and Genome Center

Prof. Dr. Dr. Ugur OZBEK is RareBoost project’s ERA Chair holder. Dr. Ozbek, MD, PhD, is a Professor in Genetics with an extensive research history on the delineation of the genetic and molecular mechanisms underlying childhood and adult hereditary cancers/hematological malignancies and rare/undiagnosed diseases. He is the national coordinator for Orphanet in Turkey since 2006. Dr. Ozbek is also working as a scientific advisory committee member at Health Institutes of Turkey (TUSEB) since 2016.

Dr.  Aiman Erbad

Qatar University

Prof. Aiman Erbad is the VP of Research and Graduate Studies and Professor of Computer Science and Engineering at the College of Engineering in Qatar University. In 2005, Dr. Erbad obtained an MSc in Embedded Systems and Robotics from the University of Essex (United Kingdom). In 2012, he obtained his PhD in Computer Science from the University of British Columbia, Vancouver (Canada). Dr Erbad served as the Head of the Information and Computing Technology Division at the College from Sept 2021 to May 2024. Prior to this, he was the Director of Research Planning and Development at Qatar University from 2018 to 2020. He also served in Qatar University as the Director of Research Support responsible for all grants and contracts from 2016 to 2018, and as the Computer Engineering Program Coordinator from 2014 to 2016.

Dr. Aiman Erbad has extensive academic and technical experience in the areas of edge intelligence, cloud computing, Internet of Things (IoT), blockchain, and private and secure networks. Dr. Erbad received the Platinum award from HH The Amir Sheikh Tamim bin Hamad Al Thani at Education Excellence Day 2013 (PhD category). He received four international best paper awards and more than 12 major research grants from Qatar National Research Fund programs at Qatar Research, Development, and Innovation Council. He is an editorial board member in four international journals. He published more than 200 papers in top conferences and journals and helped organize many international IEEE and ACM conferences. Dr. Erbad obtained a Master in Business Administration (MBA) in 2023 and currently serves as a board member in Qatar Mobility Innovations Center (QMIC).

Dr. Heidi Rehm

The Broad Institute

Heidi Rehm, a human geneticist and genomic medicine researcher, is co-director of the Program in Medical and Population Genetics and an institute member at the Broad Institute. She is the chief genomics officer in the Department of Medicine at Massachusetts General Hospital (MGH), working to integrate genomics into medical practice with standardized approaches. She is also a professor of pathology at Harvard Medical School and faculty member of the Center for Genomic Medicine at MGH.

As a board-certified laboratory geneticist and chief medical officer of the Broad Clinical Laboratories, she is guiding genomic testing for clinical and clinical research use. She is a leader in defining standards for the interpretation of sequence variants and a principal investigator of a major NIH-funded effort called ClinGen (Clinical Genome Resource), providing free and publicly accessible resources to support the interpretation of genes and variants.

Rehm also co-leads the Broad Center for Mendelian Genomics with Anne O’Donnell-Luria and Michael Talkowski focused on discovering novel rare disease genes and co-leads the Matchmaker Exchange to aid in gene discovery. She is a strong advocate and pioneer of open science and data sharing, working to extend these approaches through her role as a vice chair of the Global Alliance for Genomics and Health. Rehm is also a principal investigator of the Broad-LMM-Color All of Us Genome Center, supporting the sequencing and return of results to a cohort of one million individuals in the U.S. and co-leading gnomAD, the Genome Aggregation Database.

Rehm serves as a board member and vice president of laboratory genetics of the American College of Medical Genetics and Genomics as well as an advisor to the Clinical Pharmacogenetics Implementation Consortium, Danish National Genome Center, Monarch Initiative, Ensembl, and CIViC database. She serves journal editor or advisor roles with American Journal of Human Genetics, Cell Genomics, and Genome Medicine.

Rehm received her B.A. degree in molecular biology and biochemistry from Middlebury College before earning her M.S. in biomedical science from Harvard Medical School and Ph.D. in genetics from Harvard University. She completed her post-doctoral training with David Corey in neurobiology and a fellowship in clinical molecular genetics at Harvard Medical School.

Dr. Abdulrazaq Al-Jazairi

King Faisal Hospital

Director, Clinical Trials Transformation Division
Lead Founder, Saudi Society of Clinical Pharmacy
Consultant Clinical Pharmacist, Cardiology King Faisal Specialist Hospital & Research Centre- Riyadh Saudi Arabia
Dr. Al-Jazairi is a Clinical Pharmacy Consultant in the field of Cardiovascular Pharmacotherapy, and the Director of the clinical Trials Transformation Division at the prestigious King Faisal Specialist Hospital and Research Center (KFSH&RC), Riyadh Saudi Arabia. He received his Doctor of Pharmacy degree from Campbell University at Buies Creek, North Carolina, USA, and a general Pharmacy Practice Residency at Duke University Medical Center (DUMC), Durham, NC. In 2000, Dr. Al-Jazairi completed a two-year Specialty Residency in Cardiovascular Pharmacotherapy from Philadelphia College of Pharmacy (PCP), University of the Sciences in Philadelphia in conjunction with the Hospital University of Pennsylvania (HUP), Philadelphia, Pennsylvania. More recently, 2014, Dr. Al-Jazairi earned a Master degree in Pharmaceutical and Healthcare Business from Mayes College, University of the Sciences in Philadelphia. Dr. Al-Jazairi is a board certified pharmacotherapy specialist with Cardiology added-qualification.
Dr. Al-Jazairi has more than 50 original research publications, and delivered many national and international presentations. Dr. Al-Jazairi is the Founder of the Saudi Clinical Pharmacy Society, 2018. He is an editorial board member of prime journals, including Annals of Pharmacotherapy and the Annals of Saudi Medicine, for more than 15 years. He sets in several committees in Saudi-FDA, Saudi Commission for Health Specialties and Saudi Health Council. He is a member of the International Accreditation Commission, ASHP. Dr. Al-Jazairi enjoys training students and residents in Cardiology, Clinical Research and Evidence-based Medicine. Dr. Al-Jazairi is the Director of the first and only Cardiology Residency Program accredited by ASHP outside the States, at King Faisal Specialist Hospital and Research Center (KFSH&RC). He also serves as an Associate Professor, School of Pharmacy and School of Medicine in Alfaisal University, Qassim University, and adjunct Assistant Professor in Princess Nora University and member of the Advisory Board for College of Pharmacy.

Dr. Erin Riggs

Geisinger

Erin Rooney Riggs, MS, CGC is a genetic counselor and Associate Professor at the Geisinger Autism & Developmental Medicine Institute and the Geisinger Commonwealth School of Medicine. Her research is focused on developing and implementing standards for consistent, transparent gene and variant assessment, as well as facilitating active engagement from the patient community in the process of generating genomic knowledge. She is one of the principal investigators on the National Institutes of Health-funded Clinical Genome Resource (ClinGen), a worldwide effort to define the clinical relevance of genes and variants for use in precision medicine and research. She is currently the co-chair of the ClinGen Gene-Disease Validity and Education, Coordination, and Training working groups, and is leading a collaboration between ClinGen, the American College of Medical Genetics & Genomics (ACMG), the Association for Molecular Pathology (AMP), and the College of American Pathologists (CAP) to update the classification guidelines for constitutional copy number variants. Erin also serves as an editor for Genetics in Medicine Open and is a member of the American Society of Human Genetics Digital Learning Committee.

Dr. Sandi Deans

GEN-QA

Professor Sandi Deans is a Consultant Clinical Scientist and the Director of Genomics Quality Assessment (GenQA) a member of the UK National External Quality Assessment Service (UK NEQAS). The EQA Scheme delivers assessment of the standard of the full clinical genomics testing pathway through 120 different schemes. This includes clinical genetics, molecular genetics, molecular pathology, cytogenomic testing, newborn screening, prenatal diagnosis, preimplantation genetic testing and variant interpretation. She is working with multiple countries across the world to embed quality into genomic services.

She was the Deputy Director of the Genomics Unit, NHS England and led the clinical, scientific and laboratory team, and is responsible for the National Genomic Test Directory. She continues to work as a Consultant for the Genomics Unit. Previously she was the Senior Scientific Advisor within the Genomics Implementation Unit at NHS England for the delivery of the 100,000 Genomes Project.

Sandi also holds a chair as Professor of Clinical Genomics at the University of Edinburgh.

Dr. Hamad Ali Yaseen

Dasman Diabetes Institute

Dr. Hamad Yaseen Ali is an Associate Professor of Genomic Medicine at Kuwait University and a Senior Researcher at Dasman Diabetes Institute. His research focuses on the genetics of kidney disease, particularly autosomal dominant polycystic kidney disease (ADPKD) and diabetic nephropathy. He took part in the establishment of Kuwait’s first dedicated ADPKD clinic, integrating genetic services into patient care, and has been instrumental in advancing precision medicine initiatives in the region. Dr. Ali is also a member of the Ministry of Health–Dasman Ethical Review Committee, where he oversees the ethical conduct of clinical trials. He collaborates with leading international partners and serves on the editorial boards of several international journals in nephrology and genetics.

Dr. Mark Hughes

Zetta Genomics

Mark is a results-driven leader with over 25 years of experience in Pharma and Biotechnology. A seasoned expert in Product Management, Business Development, and Commercial Strategy, Mark specializes in delivering cutting-edge solutions in Bioinformatics and Computational Biology. His insights to guide innovations from concept to market, overseeing the full sales cycle, and delivering transformative solutions.
From pioneering new product innovations to mastering the full sales cycle, Mark has a track record of transforming complex challenges into strategic opportunities. His deep technical knowledge spans Sequence Analysis, DNA Sequencing, Bioinformatics, Genomics, Systems Biology, Transcriptomics, and Enterprise Software.
Armed with a PhD in Genetics from the University of Liverpool, Mark combines scientific precision with business acumen to empower organizations and accelerate breakthroughs. Passionate about advancing the future of biotechnology, and the intersection of science and commerce, which is where he brings impactful solutions to market and building partnerships that deliver results.