Team Leader for Laboratory for Transcriptome Technology, RIKEN Centre, Japan
Head of the Genomics Research Centre, Human Technopole, Italy

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.

Dr. Frank V. Sutland Professor of Pediatric Genetics
McKusick-Nathans Department of Genetic Medicine
Johns Hopkins University School of Medicine, USA

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.

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.

A member of the WHO Technical Advisory Group on Genomics, Prof Zilfalil serves as a consultant pediatrician, clinical geneticist, and lecturer at the School of Medical Sciences at the Universiti Sains Malaysia. He trained as a pediatrician and holds MMed in Pediatrics from the Universiti Sains Malaysia, MSc in Medical Genetics from the University of Glasgow, and PhD in Pharmacogenetics from the University of Aston, UK. Prof Zilfalil’s decades of experience has greatly contributed to the study of rare diseases among the Malay population and include his participation in the Human Variome Project and the Global Globin Network. As a testament to his contributions to the field, he was also awarded the UNESCO Chair in Human Genetics on Thalassemia in 2022.

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.

Elspeth began her career in genetics with a BSc (Hons) in biochemistry and genetics from the University of Aberdeen. She then completed a PhD looking at autosomal forms of retinitis pigmentosa at the MRC Human Genetics Unit based at the University of Edinburgh. After a few years working in publishing she joined the HUGO Gene Nomenclature Committee (HGNC) in 1998 at University College London, and took over as project coordinator in 2004. The HGNC was then under the leadership of Prof Sue Povey, and when Sue retired in 2007 Elspeth moved the HGNC team to the European Molecular Biology Laboratory’s European Bioinformatics Institute (EMBL-EBI) at Hinxton near Cambridge, on the same campus as the Wellcome Sanger Institute. In 2018 Elspeth took up a position as Director of Research (professorial equivalent) in the Clinical School of the University of Cambridge, and migrated the HGNC project to Cambridge.

During her time as a Principal Investigator for the HGNC she has expanded the project to name genes in key vertebrate species, and most recently to investigate naming genes in the tree model organism Populus trichocarpa. She was elected to HUGO Council for two consecutive terms from 2005-2011, and in 2018 was awarded the Wellcome Genome Campus Award for Best Practice in Supporting Women in Science. Elspeth serves and advises on many committees related to gene nomenclature, was managing editor for the Annals of Human Genetics for 8 years, and is an Executive Associate Editor for Human Genomics, the official journal of HUGO.

Fellow Africa Academy of Sciences (AAS), Fellow South African Academy of Sciences (ASSAf)
University of Cape Town, South Africa

Professor Collet Dandara is currently serving as Deputy Dean of Postgraduate Education in the Faculty of Health Sciences, at the University of Cape Town. He is also a Director of the SAMRC/UCT Platform for Pharmacogenomics Research and Translation Unit (PREMED) and is a professor of human genomics. Collet Dandara is principal investigator of the pharmacogenomics & drug metabolism research group at the University of Cape Town. Collet is on the Executive Committee of the African Society for Human Genetics (AfSHG) as well as the African Pharmacogenomics Network (APN) and was Chair of the Southern African Society for Human Genetics (SASHG) (2021-2023).  Professor Dandara serves on the Board of the Sydney Brenner Institute for Molecular Bioscience and served on the South African Medical Research Council (SAMRC) board from 2019 to 2022. Professor Dandara is a biomedical scientist with extensive experience in pharmacogenomics. Professor Dandara’s research covers the understanding of the pharmacogenomics of antiretroviral drugs and cardiovascular diseases including hypertension and cancer. He is one of the leading experts in pharmacogenomics on the African continent with an international standing in the field.  He is a Fellow of the Academy of Science of South Africa (ASSAf Fellow), a Fellow of the African Academy of Science (AAS-Fellow) and was part of the inaugural World Academy of Sciences (TWAS) Young Affiliate/Alumni (TYAN) Executive Committee (2016-2021). He has a track record of successful supervision to graduation of postgraduate students and has supervised to graduation over 30 Honours students, more than 20 MSc students and more than 12 PhD students. He is widely published with >170 publications in international peer-reviewed journals, accumulating Google Scholar H-index of 38 and an i10-index of 110. He has a good understanding of the higher education systems in Africa & internationally, including the funding landscape.

Link to Scopus: https://www.scopus.com/authid/detail.uri?authorId=6603005641

Professor of Medical Genetics and Genomic Medicine
University of Campinas, Brazil

Professor Iscia Lopes-Cendes is a physician-scientist and a professor of Medical Genetics and Genomic Medicine at the University of Campinas (UNICAMP), Brazil. She is also a principal investigator at the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN, www.brainn.org.br) a renowned center for research, innovation, and dissemination of science in Brazil. She works in the field of neurogenetics using cutting-edge multi-omics techniques to study the genetic aspects of neurological disorders. In 2015 she played a crucial role in establishing the Brazilian Initiative on Precision Medicine (BIPMed, www.bipmed.org). This initiative resulted in the creation of the first public genomic database in Latin America, laying the groundwork for genomic testing in Brazil. Dr. Lopes-Cendes’s contributions to science are well-documented with over 278 scientific papers published in peer-reviewed journals and an h-index of 58 (Google Scholar). She is a member of both the Brazilian Academy of Science and the São Paulo Academy of Science. Additionally, Dr. Lopes-Cendes works as an attending physician at the outpatient clinics of the UNICAMP University hospital.

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.

Wellcome Trust Research Fellow and Associate Professor, Department of Haematology and Blood Transfusion
Muhimbili University of Health and Allied Sciences, Tanzania

Julie Makani (born 1970) is a Tanzanian medical researcher. From 2014 she is Wellcome Trust Research Fellow and Associate Professor in the Department of Haematology and Blood Transfusion at the Muhimbili University of Health and Allied Sciences (MUHAS). Also a visiting fellow and consultant to the Nuffield Department of Medicine, University of Oxford, she is based in Dar es Salaam, Tanzania. In 2011, she received the Royal Society Pfizer Award for her work with sickle cell disease.

Dr. Julie Makani is an Associate Professor in the Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences in Tanzania. She completed her undergraduate/postgraduate training at the University of Dar es Salaam, then she continued her training in the UK, receiving the FRCP from the Royal College of Physicians and the PhD from the Open University.

Dr. Julie’s clinical area of interest is haematology, with a focus on sickle cell disease. She has published extensively in this area and established/been a member of a number of networks and projects at national, regional and global level.

One of her projects is the H3ABioNet Genomic Research Network, in which Nicola Mulder, an AIMS South Africa Executive Team Member from UCT, plays a leading role. She has been awarded several honors including the Archbishop Desmond Tutu Leadership Fellowship at the African Leadership Institute.

Professor of Human Genetics, Director of Center for Human Genetics,
College of Medicine and Health Sciences, University of Rwanda, Rwanda

Professor Leon Mutesa is an MD, PhD and full professor of human genetics, currently serving as the Director of the Center for Human Genetics at the College of Medicine and Health Sciences, University of Rwanda—a center he established in 2006. He obtained his MD from University of Rwanda in 2003 and subsequently earned his PhD in 2009 from the University of Liege, Belgium, where he also completed his post-doctoral in 2011. His illustrious career has been marked by substantial involvement in clinical services, academia, research, capacity building, and health sector management. Prof. Mutesa has held several prestigious positions, including Director of the Department of Clinical Laboratory at Kigali University Teaching Hospital, the largest referral hospital in Rwanda. He also served as the Director General of the Medical Research Center at the Rwanda Biomedical Centre under the Ministry of Health, where he orchestrated health-related research activities across national medical institutions. A pioneering figure in the field of genetics, Prof. Mutesa has spearheaded the development and implementation of Rwanda’s reference center for medical genetics, the only facility of its kind in East Africa. His advocacy has successfully led to the inclusion of genetic testing in health insurance coverage in Rwanda, enabling patients to access genetic and genomic diagnostics. He has supervised and mentored over 90 MSc, MMed, PhD, and post-doctoral fellows from Rwanda and international universities. With over 180 peer-reviewed publications to his name, Prof. Mutesa is a prolific contributor to scientific research field. He is a member of various expert committees and has led numerous regional and international research consortia and fora. Over the past 15 years, he has participated in multiple international research and training collaborations. Currently, he serves as dual Principal Investigator/Program Director for an NIH grant from the National Cancer Institute (NCI) for the U54 HIV/HPV Cancer Prevention, Treatment, and Pathogenesis project: Rwanda/Einstein (1U54CA190163), aimed at screening for HPV and cervical cancer in a large cohort of HIV-positive women. Additionally, he is the Principal Investigator for an NIH/H3Africa grant from the National Institute of Mental Health (NIMH) on the Transgenerational Epigenomics of Trauma and PTSD in Rwanda (U01MH115485), focusing on the transgenerational transmission of the epigenomic impact of genocide exposure and PTSD in women survivors of the Rwandan genocide and their offspring (https://www.nature.com/articles/s41588-022-01028-9). During the COVID-19 pandemic, Dr. Mutesa and his research team implemented various projects to enhance SARS-CoV-2 laboratory diagnostics and management. Their innovative pooling testing strategy, which optimizes limited testing resources, was published in Nature (https://www.nature.com/articles/s41586-020-2885-5). He is also the principal investigator of a national prospective cohort study evaluating the immune response to COVID-19 vaccines in the Rwandan population. Prof. Mutesa leads multiple research groups focused on infectious diseases (HIV, malaria, NTDs), genomics, genetics, and epigenetics. His outstanding contributions to human genetics have been recognized with the prestigious HUGO African Prize 2024 (https://www.hugo-international.org/hugo-african-prize/). He also serves as a board member of the International Vaccine Institute (https://www.ivi.int/international-vaccine-institute-appoints-two-members-to-its-board-of-trustees-representing-ecuador-and-rwanda/). Prof. Mutesa’s extensive expertise, leadership, and groundbreaking research continue to advance the field of human genetics and improve healthcare outcomes in Rwanda and beyond.

Professor and Head of School of Pharmacy & Molecular Sciences
James Cook University, Australia

Prof. Juergen Reichardt is a human molecular biologist, geneticist and biochemist with epidemiologic interests. In general terms, he aims to understand how the genome – in conjunction with the environment – produces the multitude of human phenotypes. To this end, he has chosen a “candidate gene” approach for selected phenotypes of interest. These choices were dictated by his training as a biochemist, molecular biologist and geneticist with a focus on metabolic pathways and common diseases.

Juergen has extensive molecular biology and molecular epidemiologic experience in the area of identification and characterization of disease-causing mutations in metabolic genes. Most relevant here are his efforts on galactosemia in the past and also on the SRD5A2 gene.

Juergen academic training involved working with an outstanding, Nobel-prize winning biochemist, Paul Berg, for his PhD at Stanford and a ground-breaking, world-class human geneticist, Savio Woo, during his postdoctoral training also in the USA. Throughout those early years, he was the first to clone the gene responsible for human galactosemia, a Mendelian disorder, as well as being the first to identify and characterize mutations that cause this disorder.

Juergen then joined the faculty of the University of Southern California Keck School of Medicine (USA) where he rose through the ranks from Assistant to Associate Professor. There he continued his investigations into galactose metabolism by cloning and characterizing the gene encoding UDP-galactose 4’ epimerase (GALE), the cause of human epimerase-deficiency galactosemia. In fact, he and his lab were responsible for cloning and characterizing two of the three genes involved in the human Leloir pathway of galactose metabolism and his lab identified galactosemia mutations in all three galactose metabolic genes.

Juergen then turned his interest to common diseases, especially prostate cancer. He has made significant contributions to the biochemical, genetic, epidemiologic and molecular analysis of androgen metabolism and prostate cancer over the past two decades.

Juergen arrived as the foundation Plunkett Chair of Molecular Biology (Medicine) at the University of Sydney in Australia in 2005 and was also the Head of the School of Pharmacy and Molecular Sciences at James Cook University. Furthermore, he served as the Associate Dean Research for the Faculty of Medicine, Health and Molecular Sciences at James Cook University

Juergen has worked on other cancers, incl. brain and ovarian. Furthermore, he has also recently published on policy, politics, administration and science. Juergen also served as the ViceChancellor, Research and Innovation at YachayTech University, the first research-intensive university in Ecuador, and as interim Dean.

Juergen has been recognized internationally: he has coauthored almost 200 peer—reviewed publications, incl. in such prestigious journals as The Lancet, Nature, PNAS, Science, TiBS, TiC and TiG. Furthermore, he has held continuous grant funding since 1992 from various agencies. Juergen has in fact been funded uninterrupted by the NIH from 1994-2010. He was also funded externally in Australia and Ecuador.

Juergen currently serves on a dozen editorial boards, incl. as Executive Associate Editor of Human Genomics. He also has extensive experience in reviewing manuscripts and grant applications, incl. for the ARC and the NHMRC in Australia, the Research Grants Council in Hong Kong, the MRC in the UK, the NMRC in Singapore and the DoD, NIH and VA along with many others in the USA.

Director, Institute of Genetics and Cancer, University of Edinburgh, United Kingdom

Professor Joris Veltman is a Dutch human geneticist, Director of the Institute of Genetics and Cancer at the University of Edinburgh. Prior to this, he has been Director of the Institute of Genetic Medicine (2017-2019) and Dean of the Biosciences Institute (2019-2024) at Newcastle University, and before that he worked at the Department of Human Genetics (2001-2017), Radboud University, The Netherlands.

Joris has contributed significantly to unravelling the genetic causes of rare disease, to our understanding of mutational mechanisms underlying genetic disorders and to the implementation of genomics approaches in medicine. His research using both exome and genome sequencing provided strong experimental evidence for a de novo paradigm in severe early-onset disorders. He now studies genetic factors in male infertility, working with state-of-the art genomics technologies and computational approaches. He is a founding member of the International Male Infertility Genomics Consortium, aiming to bring together expertise and share data to advance research and diagnostics in this understudied disorder. His ongoing research is funded by the Wellcome Trust and the Medical Research Council.

Joris is an active member of the European Society of Human Genetics, current chair of the ESHG Annual Meetings Committee, former chair of the ESHG Scientific Programme Committee and organiser of the ESHG Next Generation Sequencing course.

In 2016, Prof. Veltman and Brunner were awarded the King Faisal International Prize for Medicine for pioneering the clinical application of next generation genetics. In 2021 he was elected Fellow of the Academy of Medical Sciences, United Kingdom.

jennifer.lee@hugo-international.org