Adam Jackson is an academic clinical fellow in clinical genetics at the Manchester Centre for Genomic Medicine, UK.  He obtained his medical degree from the University of Manchester in 2013 prior to starting clinical rotations in both adult and paediatric medicine in the North West of England before obtaining Membership of the Royal Colleges of Physicians (MRCP) in 2018.  He obtained a Master’s degree in Genomic Medicine in 2017 and is currently completing his PhD studies on genomics of rare diseases.  In March 2023, he was awarded the Robin-Winter prize from the UK Clinical genetics Society. 

Siddharth Banka is a Professor of Genomic Medicine and Rare Diseases at the University of Manchester, and a Consultant Clinical Geneticist at Saint Mary’s Hospital in Manchester. His research interest is in neurodevelopmental and congenital malformation disorders caused by defects in chromatin remodelling genes, copy number variations and inborn errors of metabolism. His group has led, or contributed to, the discoveries of ~50 novel genetic diseases. Using a combination of cellular and organismal models and benefiting from extensive internal, national and international collaborations his group has defined underlying mechanisms of several rare disorders. His research has a direct and immediate impact on health by improving diagnosis, management and treatments for patients, while simultaneously revealing fundamental biological insights. In his clinical practice I see children and adults with a range of genetic disorders. Overall, the aim of his work is to improve diagnosis, management, and treatments of patients with rare diseases. 

Robert Kuhn received his PhD in Biochemistry and Molecular Biology from the University of California Santa Barbara.  Dr. Kuhn recently retired from the University of California Santa Cruz Genome Browser Project, where he contributed to the growth of the Browser for more than 19 years and established the outreach and training program, presenting more than 300 workshops and trainings in 30 countries.  He continues to teach the Genome Browser doing business as Robert Kuhn Consulting.

David Higgins, Ph.D., is the Informatics Program Manager for the Center of Data-Driven Discovery in Biomedicine (D3b) at the Children's Hospital of Philadelphia (CHOP). He received his undergraduate education at North Carolina State University before completing graduate training at the University of Georgia in genomics and cytogenetics of the crop plant Zea mays. After several years teaching at the undergraduate level, David brought his expertise in genomics and passion for education to D3b where he serves as a coordinator of training and outreach activities related to the center's collaborative science vision for finding breakthroughs in the causes and treatment of pediatric brain tumors. His role has since expanded to include managing the team responsible for producing high quality clinical and genomic datasets for research into the underlying causes of pediatric cancers and structural birth defects, funded as a part of the Gabriella Miller Kids First Data Resource Center.

Dr. Pineda is a board-certified clinical molecular geneticist and clinical cytogeneticist with over 10 years of experience in the implementation of genetic testing in the diagnosis and medical management of patients. Dr. Pineda is currently the medical affairs director for hereditary cancer and rare disorders at Invitae. Before joining Invitae in 2017, was the Senior Laboratory Director at Courtagen Life Sciences and Associate Clinical Director of Cytogenomics at GeneDx. Over the years, he has led the implementation of numerous clinical laboratory tests, genomic variant interpretation, and reporting processes. He has been instrumental in developing and launching several genetic diagnostic tests in cytogenetics, oncology, cardiology, mitochondrial, metabolic, endocrine, neurologic, and pediatric disorders. Dr. Pineda obtained his M.D. from Universidad CES in Medellin, Colombia, and later pursued post-doctoral training at the Medical Genetics Branch of the National Human Genome Institute (NHGRI), NIH. Subsequently, he completed his American Board of Medical Genetics and Genomics (ABMGG)-accredited fellowship in clinical molecular genetics and clinical cytogenetics at the NIH Medical Genetics and Genomic Medicine Fellowship Training Program. Daniel participates in several workgroups in medical societies and consortiums, seeking improved access, quality, and consistency of genetic diagnostic tests, and has co-authored several peer-reviewed manuscripts characterizing the natural history and genetics of several hereditary disorders. 

Dr. Aradhya is the head of global medical affairs at Invitae in San Francisco. His group conducts research and education aimed at improving the use of genetic testing in healthcare globally. He is an ABMGG board-certified clinical molecular geneticist and cytogeneticist and a fellow of the ACMG. He completed medical genetics training in 2007 at Stanford University and received his Ph.D. in molecular and human genetics in 2001 at Baylor College of Medicine. Dr. Aradhya participated in the international Human Genome Project to sequence the X chromosome, has contributed to characterizing several Mendelian disorders, and helped develop professional guidelines for clinical laboratory genomics. Over the years, he has participated in the NIH ClinGen project, served on various committees of the ASHG, ISPD, and others, and as a Director of the ABMGG.

Chief Genomics Officer, UAB Medicine 
Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics UAB

Barbara Kraatz Fortini, PhD, is Associate Professor of Genetics and Director of the Center for Training in Applied Genomics (CTAG) at the Keck Graduate Institute in Claremont, CA.  She serves as Program Director for the MS in Human Genetics and Genomic Data Analytics and for the Clinical Genetics and Bioinformatics summer program for undergraduates.  Dr. Fortini received her PhD from the California Institute of Technology and completed her postdoctoral training at the Keck School of Medicine of USC in the Department of Preventive Medicine at the USC Norris Comprehensive Cancer Center.  Her current research program focuses on the functional genomics of colorectal cancer risk.    

Dr. Williamson graduated from the University of Rochester (UR) with a major in biochemistry and minors in chemistry and American Sign Language in 1998. She then earned her PhD in genetics from Harvard University in 2005. She served as Deputy Editor of the American Journal of Human Genetics from 2005 to 2011. She then worked as a subject matter expert and project manager for the consultant firm Booz Allen Hamilton and supported clients who funded military health research. In 2014 Dr. Williamson worked for a personalized cancer genetics company, and in 2016 she returned to UR where she was a research project manager for a lab working towards developing stem cell derivatives to treat multiple sclerosis. In 2018 she earned her Master's in secondary science education at the Warner School of Education, and she now teaches 7th grade science at Gates Chili Middle School near Rochester, NY.

Sara C. Zapico is an assistant professor in the Department of Chemistry and Environmental Sciences at New Jersey Institute of Technology. She is also a research collaborator at the Smithsonian Institution. She received her PhD in biochemistry, with a focus in biomedical sciences, from the University of Oviedo in Spain, and her Master's in forensic Anthropology and Genetics from the University of Granada, in Spain. After that, she was a postdoctoral fellow at Smithsonian Institution and an associate at the forensic unit from the International Committee of the Red Cross in Geneva, Switzerland, completing her postdoctoral training with other visiting scientist positions. Her research interests focus on the application of biochemical techniques to forensic science issues, like age-at-death estimation and the determination of post-mortem interval, with implications in aging and biomedical research. 

Kenneth S. Ramos, MD, PhD is an accomplished physician-scientist with designations in the National Academy of Medicine and National Academy of Sciences. He is a transformational leader recognized throughout the world for his scientific contributions in the areas of genomics, precision medicine and toxicology.

With formal training in pharmaceutical sciences, chemistry, biochemistry, pharmacology, and medicine, Dr. Ramos is helping to steer the changing landscape of medicine, biotechnology and healthcare. In this context, he leads several translational, clinical research, and educational programs that integrate diverse approaches to elucidate genomic mechanisms of disease and to develop novel therapies for several oncologic, pulmonary, and vascular diseases.  

Dr. Ramos has provided academic, executive, administrative, and scientific leadership in the areas of genetics and genomic medicine and toxicology at various academic institutions and over the course of his career has positively influenced the career of numerous clinicians and scientists engaged in medical, veterinary and pharmaceutical practice. He is deeply committed to initiatives that advance modern technological applications to improve quality of healthcare and reduce disease burden and health-associated costs.

Ruizhi "Vince" Duan is a Ph.D. candidate in the Lupski lab at Baylor College of Medicine and a BCM-GREGoR Rare Disease Research Center trainee member. He received his M.S. in Diagnostic Genetics from the School of Health Professions at MD Anderson Cancer Center and was a certified cytogenetic technologist. His doctoral research explores the genetic etiologies of human developmental malformations and rare Mendelian diseases via large-scale family-based multimodal genome analyses. His publications mainly focus on uncovering novel disease-causing variants and mutational mechanisms in rare diseases. 

Ms. Olivia Lee, B.S., is an NIH Graduate Partnership Program (GPP) fellow at the NCI Division of Cancer Epidemiology and Genetics and is currently completing her doctoral degree in quantitative sciences and cancer biology at the University of Texas MD Anderson Cancer Center. Her doctoral research focuses on investigating the interaction between somatic mutations and germline variants in Ewing Sarcoma and profiling the genomic landscape of thyroid cancer metastasis following the Chornobyl accident and 22q loss in papillary thyroid carcinoma.

Dr. Mitchell Machiela received his M.P.H. in epidemiology from the University of Michigan and his Sc.D. in epidemiology from the Harvard T.H. Chan School of Public Health. In 2017, Dr. Machiela was appointed as Earl Stadtman Investigator in the Integrative Tumor Epidemiology Branch. His research program is focused on understanding the role of inherited variation and acquired mutations in cancer risk. His large-scale investigations of mosaic chromosomal alterations have led to improved knowledge of the risk factors and outcomes associated with this type of clonal hematopoiesis. He also conducts genetic association studies to uncover the underlying genetic architecture of cancer (e.g., Ewing sarcoma). Dr. Machiela has received numerous awards and honors for his research, including being selected as a Forbeck Scholar and receiving an NCI Directors Award and Outstanding Mentor Award. 

Chief Genomics Officer, UAB Medicine 
Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics UAB

Beryl Cummings completed her PhD in human genetics at Harvard Medical School and the Broad Institute, where she was part of the Genome Aggregation Database (gnomAD) team. After her training, Beryl was an early hire into the human genetics team at Maze Therapeutics. She is currently a Senior Associate at Third Rock Ventures, working on building new biotech companies. She is motivated by continually learning the best ways to leverage human genetics in drug discovery and is passionate about bringing new therapies to rare disease families.

Jay Shendure is an Investigator of the Howard Hughes Medical Institute, Professor of Genome Sciences at the University of Washington, Director of the Allen Discovery Center for Cell Lineage Tracing, and Scientific Director of the Brotman Baty Institute for Precision Medicine. His 2005 doctoral thesis with George Church included one of the first successful reductions to practice of next generation DNA sequencing. Dr. Shendure's research group in Seattle pioneered exome sequencing and its earliest applications to gene discovery for Mendelian disorders and autism; cell-free DNA diagnostics for cancer and reproductive medicine; massively parallel reporter assays, saturation genome editing; whole organism lineage tracing, and massively parallel molecular profiling of single cells. Dr. Shendure is the recipient of the Curt Stern Award from the American Society of Human Genetics (2012), the Richard Lounsbery Award from the National Academy of Sciences (2019) and the Mendel Award from the European Society of Human Genetics (2022) and is an elected member of the American Association for the Advancement of Science (AAAS) and the National Academy of Sciences (NAS). He serves or has previously served as an advisor to the NIH Director, the US Precision Medicine Initiative, the National Human Genome Research Institute, the Chan-Zuckerberg Initiative and the Allen Institutes for Cell Science and Immunology. He received his MD and PhD degrees from Harvard Medical School in 2007. 

Mary Canady has a Ph.D. in biochemistry from University of California, Riverside and is the founder of Biotech Networks, the leading resource for more than 50 thousand life scientists to connect, learn, and grow, with hubs across the US.  

Dr. Canady has led marketing and communications teams to meet business objectives at large global life science companies as well as at biotech startups.  

Mary is also a leader in advancing science communication, advocacy, and diversity and has led organizations and teams to further her life’s mission to empower every scientist to make a bigger impact.  

Dr. Reddi is a Professor and Chief for the Division of Precision Medicine and Cytogenetics and Director of the Precision Medicine Laboratory in the Department of Pathology at the Medical College of Wisconsin (MCW). Dr. Reddi has a doctoral degree in biotechnology and trained in Clinical Molecular Genetics at the Mayo Clinic in Rochester, Minnesota, where she also led a translational research program focused on thyroid cancer. In 2018 Dr. Reddi received the prestigious “Women of Innovation Award” in the Category of Large Business Innovation and Leadership from the Connecticut Technology Council, which recognizes extraordinary creativity and leadership in bioscience and technology. Her research interests include cancer biology, viro-therapeutics and the genetics of somatic and inherited disorders. Dr. Reddi is passionate about impacting patient-care through innovation and translation and is known for inspiring women in Biomedical sciences through her leadership ethic. 

Dr. Kerstin U. Ludwig is a Principal Investigator and Group Leader at the Institute of Human Genetics at the University of Bonn, Germany. She obtained her undergraduate training at the Universities of Dresden (Germany), Strasbourg (France) and Toronto (Canada). In her PhD studies at the University of Bonn, she worked on the genetics of psychiatric disorders before turning towards studying the genetic etiology of orofacial clefting. As part of this work she has contributed to the discovery of several risk loci for nonsyndromic cleft lip w/wo cleft palate and the identification of subtype-specific effects of risk variants. Since 2020 Kerstin Ludwig has been engaged in international efforts to study the host genetics of COVID-19, as part of which she is leading the German contributions. She has received numerous awards for her research, including admissions to the Emmy-Noether program of the German Research Council and the “Junges Kolleg” of the NRW Academy of Arts and Sciences, and the Marylou Buyse Award for Excellence in Craniofacial Research in 2020.