Meet our speakers!

Rumeysa Gelgi was born on January 1st, 1997 in Turkey. She is the first case of Weaver Syndrome diagnosed in Turkey and 27th case worldwide. She has the most severe form of Weaver Syndrome in terms of physical impact. She is also the tallest living woman, as confirmed by Guinness World Records, standing over 7ft tall, and she holds a total of 8 world records. She is working in the software industry.

Dr. Jill Fahrner is an Associate Professor in the Departments of Genetic Medicine and Pediatrics at the Johns Hopkins University School of Medicine. She is a physician-scientist with a long-standing interest in epigenetic mechanisms of disease. She is Director of the multidisciplinary Epigenetics and Chromatin Clinic, where her clinical focus is on caring for individuals with epigenetic and chromatin disorders. She has helped to delineate the Mendelian disorders of the epigenetic machinery (Chromatinopathies) as a distinct group and has seen hundreds of individuals with these conditions, most of which involve intellectual disability and abnormal growth. The goal of her laboratory research is to understand disease mechanisms and develop therapies for these disorders, including Weaver and Sotos syndromes. She has helped lead the field in establishing mechanisms for abnormal growth and identified a potential epigenetic therapy to target overgrowth in Weaver syndrome. She recently delineated the first neurodevelopmental disorder of the DNA demethylation machinery, Beck-Fahrner Syndrome. She earned her PhD in Cellular and Molecular Medicine from Johns Hopkins and her MD from the University of North Carolina, and she completed Pediatrics residency training at Duke University Medical Center. She completed Clinical Genetics residency training and served as Chief Resident in the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins before joining the faculty as Assistant Professor. She is a long-standing member of the American Society of Human Genetics, having won an ASHG Reviewer’s Choice Abstract Award for her work on growth deficiency in Kabuki syndrome 1, and she currently serves on the ASHG Program Committee, on the editorial board of the American Journal of Medical Genetics Part A, on a National Organization for Rare Disorders (NORD) working group, and on multiple rare disease medical and scientific advisory boards, including the Beck-Fahrner Syndrome Foundation, the Malan Syndrome Foundation, and the Sotos Syndrome Support Association (SSSA), among others. She has received a Johns Hopkins School of Medicine Clinician Scientist Award, a Musculoskeletal Pilot and Feasibility Award, a William and Ella Owens Medical Research Foundation Award, the Margaret Ellen Nielsen Fellowship Award, and a prestigious Hartwell Foundation Individual Biomedical Research Award. Her research is supported by the National Institutes of Health, a Maryland Stem Cell Research Fund Launch Award, and Johns Hopkins University Catalyst and Discovery Awards.

Dr. Jill Fahrner: Overgrowth and Intellectual Disability syndromes - Progress at the bench and the bedside

Overgrowth Syndromes Alliance (OSA) Speaker Series