Dr. Frank V. Sutland Professor of Pediatric Genetics at McKusick-Nathans Department of Genetic Medicine (DGM)
Professor at Johns Hopkins Bloomberg School of Public Health
Clinical Director, OMIM

After completing medical school at Georgetown University, and residency in Pediatrics, an MPH from the Bloomberg School of Public Health, followed by fellowship in clinical and biochemical genetics at Johns Hopkins Hospital, Ada Hamosh, MD, MPH, joined the faculty of the McKusick-Nathans Department of Genetic Medicine (DGM)of the Johns Hopkins University in 1992.

She became the Dr. Frank V. Sutland Chair of Pediatric Genetics there in 2007. Her lifelong interest is in genotype-phenotype correlations and the molecular basis of mendelian disorders, beginning with cystic fibrosis, but expanding to becoming Scientific Director of Online Mendelian Inheritance in Man (OMIM®) since 2002. She is clinical director of the IGM, and has brought a primary care model to genetics practice.

In addition, over the past several years, she has developed PhenoDB, a web-based tool for the collection, storage and analysis of phenotypic information, as well as variant filtering and analysis developed for the NHGRI funded Centers for Mendelian Genomics, but with broad applicability to any clinical or research lab pursuing whole exome/genome sequencing technologies.

Her dream is to integrate standardized family history, phenotyping and genomic data to enable point of care support to diagnose and manage genetic disease. In addition, she and colleagues have developed GeneMatcher, a tool to connect clinicians, researchers, and patients/families with an interest in the same gene.  Because of use from submitters from 100 countries, GeneMatcher has become the premier tool to enable novel disease gene identification.

Born and educated in Italy he obtained his doctoral degree at the University of Trieste in 1989. From 1990 to 1995 he developed technologies for DNA extraction and DNA sequencing at Talent, a spin-off biotech.

He moved to Japan in 1995 at RIKEN as STA Fellow and became a tenured researcher in 1997. He developed technologies to capture full-length cDNAs based on cap-trapper, which became the fundamental technology for the FANTOMprojects. Further, technologies to analyze the transcriptome, he has developed also the CAGE method, allowing simultaneous measurement of gene expression and map of promoters and other regulatory regions. These technologies have been broadly used in the RIKEN FANTOM projects and allowed identifying non-coding RNAs as are the major output of the mammalian genome and providing comprehensive maps of the mammalian promoters and enhancers. The CAGE methods was further redeveloped for analysis of limited amount of tissues and single cells.

He was appointed in 2008 to Team Leader, Unit Leader and Deputy Project Director positions at the RIKEN Omics Science Center. From 2013, he was appointed as Director of the Division Genomics Technologies and a Deputy Director of the RIKEN Center for Life Science Technologies. From April 2018, he was appointed as Deputy Director of the RIKEN Center for Integrative Medical Sciences. From July 2020 he has taken the position of Head of the Genomics Research Centre of the Functional Genomics Programme at the Human Technopole in Milan, Italy.

Currently, he is focusing on investigating the functions of lncRNAs in the FANTOM6 project and Human Cell Atlas (HCA). Also, he has been exploring the mechanisms of SINEUPs, antisense lncRNAs which upregulate targeted protein translation.

He has published more than 370 papers and book chapters, edited books and is a member of editorial boards of various scientific journals.

Professor Regulation of Biotechnology and Patent Law
University of Buenos Aires, Argentina 

Fabiana is a law professor and expert in the social, ethical, and legal aspects of new technologies in life sciences. She holds a Ph.D. in law and social sciences of the University of Buenos Aires.

Over the last fifteen years, she has made significant contributions in the field of research ethics and the regulation of new biotechnologies.  She has led multidisciplinary bodies that conducted the creation of legal/ethics frameworks for new biotechnologies in Argentina. Since 2007, she has chaired the Advisory Commission in Cellular Therapies and Regenerative Medicine and since 2016, the Interministerial Commission in Advanced Therapies, which proposed the creation of a legal regulatory framework for Cellular therapies, Gene Therapy, and Tissue Engineering to the Argentine government and that is in force since 2018. Her work also extends to the field of biobanks. Since 2011 she chairs the Biobancs Commission, a body that drafted the Ethics- legal- technical guidelines for Biobanks, which was issued by the Ministry of Health of Argentina in 2020.

Fabiana is Vice Director of the Observatory in Life Sciences at the School of Law of the University of Buenos Aires and works in academic collaborations at national and international level in the field of genomics and health.  She is currently undertaking ambitious initiatives to materialize the right of access to the advances of science.  In 2014 she founded ACTYON Foundation, a Non-Governmental Organization devoted to promote research related to how improve the access to new technologies in the field of regenerative medicine, and the RED APTA, (Argentinean Network of Patients’ Associations for Advanced Therapies), a network aimed to provide cutting edge information to patient’s organizations, facilitate and improve the access to new treatments and medicines and act as patient advocacy.

Dean, Department of Human Molecular Genetics & Biochemistry, Faculty of Medicine
Tel Aviv University, Israel 

Karen B. Avraham is an Israeli-American human geneticist. She holds the Drs Sarah and Felix Dumont Chair for Research of Hearing Disorders.

As a full professor at Tel Aviv University, and the current Dean of the Sackler Faculty of Medicine, Avraham has a laboratory in the Department of Human Molecular Genetics and Biochemistry. Currently resides as the President of the Israel Society for Auditory Research (ISAR), Avraham held presidency with the Federation of Israel Societies for Experimental Biology (FISEB/ILANIT, 2017) as well a former board membership of the I-CORE: Gene Regulation in Complex Human Disease. Avraham is a council member of the European Molecular Biology Organization (EMBO, 2017), chair of the Scientific Committee of the Fondation Pour L’Audition in France, an elected member of the International Collegium Oto-Rhino-Laryngologicum Amicitiae Sacrum (CORLAS), and past president of the Association for Research in Otolaryngology (ARO) and the Genetic Society of Israel (GSI). She is an editor of Mammalian Genome (2017), section editor of the European Journal of Human Genetics (2017), associate editor of Human Genomics, and on the advisory editorial board of EMBO Molecular Medicine.

Avraham’s research has centered on the discovery of disease genes, focusing on hereditary hearing loss. Her team studies the molecular basis of hearing loss using genetic, developmental, biochemical, cellular and bioinformatic tools. She leads the effort in exome sequencing for the discovery of disease genes to identify mutations that are relevant for the hearing-impaired population. Her group has demonstrated that microRNAs are essential for development and function of inner ear hair cells in vertebrates and has characterized the first long non-coding RNAs (lncRNAs) and methylation in the auditory system. Avraham was the HGM2022 Chair of the Local Organizing Committee.

Professor of Oncological Sciences, Genetics and Genomics and Dermatology
Mount Sinai, New York, USA

Anne Bowcock, Ph.D. is Professor of Oncological Sciences, Genetics and Genomics and Dermatology at Icahn School of Medicine at Mount Sinai in New York, USA, where she holds the Norman Orentreich, M.D. Chair in Dermatological Research.

Prior to this she held the chair in cancer genomics at Imperial College London. She also had tenures as professor of Genetics and Medicine at Washington University in St. Louis and in the Depts. Of Pediatrics and Medicine, and in the McDermott Center of Human of Growth and Development at the University of Texas Southwestern Medical Center at Dallas.

She obtained her B.S. and PhD degrees from the departments of Genetics and Biochemistry at the University of the Witwatersrand, Johannesburg, South Africa, and conducted postdoctoral research in the department of Genetics at Stanford University.  She is actively involved in research and teaching has served on and chaired a number of NIH review committees.

She is currently co-director of the Genetics and Genomics graduate program at the Icahn School of Medicine at Mount Sinai. At Washington University in St. Louis she co-founded the graduate program in Human and Statistical Genetics. She is an international expert on cancer genetics and complex diseases, particularly those of the skin and joints. She spearheaded the identification of BAP1 as a metastasis suppressor in uveal melanoma and continues to investigate this devastating cancer at the genetic, genomic and functional levels. She also identified CARD14 as a gene responsible for a Mendelian form of psoriasis and psoriatic arthritis.

Clinical Director, NSW Health Pathology, Australia

Dr Michael Buckley is a Genetic Pathologist with Fellowships in Genetics from the Human Genetics Society of Australia, the Royal College of Pathologists of Australasia and the Royal College of Pathologists in the United Kingdom. He is the supervising pathologist of Genome.One Pty Ltd at the Kinghorn Centre for Clinical Genomics.

Dr Buckley’s research interest is principally in disease gene identification in paediatric congenital anomalies; with major publications concerning the identification of the SP110 gene as the cause of a form of severe combined immunodeficiency, the SCL29A3 gene in pigmented hypertrichosis with insulin dependent diabetes mellitus, and the FREM1 gene in metopic craniosynostosis.

Between 2008 and 2011 he was the recipient of a Marie Curie International Incoming Fellowship for a project directed at the implementation of massively parallel sequencing for disease gene identification in diagnostics and in research, a project which is ongoing with the development of a Centre for Medical Genomics within the SEALS Genetic Laboratory. Current research funding includes support for Centre of Research Excellence for Neurocognitive Disorders. Dr Buckley is actively involved in specialist training having held positions as Registrar of the RCPA Board of Censors, RCPA Chief Examiner in Genetics, HGSA Chief Examiner in Molecular Genetics, and is currently the vice-president of the Human Genetics Society of Australasia (HGSA).

MD FRCP FRCPE FRCPCH FRCOG FMedSci
Professor of Clinical Genetics / Honorary Consultant Clinical Geneticist
Newcastle University

Professor Sir John Burn obtained a first class honours degree in human genetics and an MD with distinction from Newcastle University, where he has been Professor of Clinical Genetics since 1991. He was appointed as a consultant specialist in Newcastle in 1984 and led the regional NHS Genetics Service for 20 years.

He helped to create the Millennium landmark Centre for Life, which houses an education, and science centre alongside NHS regional genetics and fertility services and University research. He is chair of the Newcastle based DNA device company QuantuMDx Ltd.  He was knighted in 2010 and chosen as one of the first 20 ‘local heroes’ to have a brass plaque on Newcastle Quayside in 2014. He is a Trustee of the European Hereditary Tumour Group, UNESCO NGO Global Variome and HUGO (the Human Genome Organisation) London.

Former roles include founding Chair the UK Cancer Genetics Group (1997-2003) and of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT 2003-5), President of the European Society of Human Genetics (2006-2007), Chair of the British Society for Genetic Medicine (2011-2013), Lead Clinician, Northern Strategic Health Authority (2010-2014), Non-executive Director NHS England (2014-2018) and Chair of Newcastle Hospitals (2017 -2023).

He leads the Cancer Prevention Programme research group at Newcastle University; CAPP2, an RCT in 16 countries, showed that aspirin reduces by half the risk of colorectal cancer in Lynch syndrome (Burn et al Lancet 2020) and resistant starch supplements reduce the risk of other LS cancers by more than half (Mathers et al Cancer Prev res 2022). CaPP3, a dose non-inferiority trial of cancer prevention with aspirin in 5 countries ends in summer 2024.

Distinguished Professor
National Institute of Biomedical Genomics (NIBMG), India

Partha Pratim Majumder obtained his BStat (Hons), MStat and PhD degrees from the Indian Statistical Institute, Kolkata. He did his post-doctoral work at the Center for Demographic & Population Genetics, University of Texas Health Science Centre, Houston. He returned to India and joined the faculty of the Indian Statistical Institute (1983). He was a Visiting Professor in the Department of Biostatistics & Human Genetics, University of Pittsburgh (1987-89).

Professor Majumder has made significant contributions to human genetics and evolution using statistical, molecular genetics and anthropological methods. He has devised innovative paradigms and statistical methods for solving biological problems related to modes of inheritance of complex human traits and mapping genes underlying such traits. He applied these methods to data on various common disorders and their quantitative precursor states, that has resulted in a clear understanding of the genetic bases of such disorders. He was one of the early human geneticists to recognize the importance of studying genetic structures of ethnic populations using molecular genetic tools to discover genes conferring susceptibilities to various common diseases. This viewpoint has been widely accepted and, in fact, the study of common diseases has moved to villages of population isolates. His work on genetic diversity of ethnic Indian populations has resulted in a clear reconstruction of the processes of peopling of the Indian subcontinent, which have had major impacts on the design of studies for mapping disease genes.

Majumder is a founding member of the International Genetic Epidemiology Society and was the Founding Chair of its ethical, legal and social issues committee. He has served on committees of the UNESCO for drafting guidelines and declarations pertaining to the human genome and human genetics. Majumder has immensely contributed to capacity-building in human and statistical genetics in India by sustained organization of workshops, summer and winter schools. He has served on the Executive Committee of the International Human Genome Diversity Programme, and on many national committees. He is a Member of the Human Genome Organization and Member, INSA Council (2006-08).

Partha Majumder is a recipient of Ranbaxy Research Award (2000), New Millennium Science Medal (2000), Shri Om Prakash Bhasin Award (2001) and GD Birla Award for Scientific Research (2002). He is also a Fellow of the Indian Academy of Sciences, Bangalore and the National Academy of Sciences (India), Allahabad.

jennifer.lee@hugo-international.org

Claire.Lee@hugo-international.org