Our Scientific Advisory Board

is Professor Emeritus of Biochemistry and Molecular Biology at the University of Florida College of Medicine and one of the world's foremost experts on asparagine synthetase (ASNS) biology. Over a distinguished scientific career spanning five decades, he has made pioneering contributions to our understanding of ASNS function, amino acid metabolism, cellular stress responses, and the molecular mechanisms underlying Asparagine Synthetase Deficiency (ASNSD). His research has been instrumental in advancing knowledge of ASNS biology and developing methods to characterize disease-causing ASNS variants. Professor Kilberg serves as the Disease Biology Expert on the Scientific Advisory Board of the ASNSD Research Association, providing strategic scientific guidance to help accelerate the development of therapies for children living with ASNSD. 

is Vice President – Head of Gene Therapy Research at Ultragenyx, leading execution of program and platform research to continually optimize and invest in Ultragenyx’s gene therapy platforms and programs. Matthew has contributed to the development of 8 rare disease gene therapy programs, including 5 currently in clinical trials, and is co-inventor on 10 patents related to gene therapy. Matthew serves on the FNIH Bespoke Gene Therapy Consortium Steering Committee, as chair of the scientific advisory board for the Coalition to Cure CHD2, as a member of the scientific advisory board for the Myhre Syndrome Foundation, as a member of the scientific advisory board for IDefine, as a member of the scientific advisory board for Project CASK and as chief scientific advisor for the Cohen Syndrome Research Foundation. Matthew also serves on the Education Committee and the Patient Outreach Committee for the American Society for Gene and Cell Therapy. Matthew is also serving his 3rd term as an elected official of the Board of Health in Millis, Massachusetts. Matthew earned a PhD in microbiology from the University of Missouri – Columbia studying host-cell interactions of autonomous Parvoviruses with Dr. David Pintel, and a MSPH in Public Health with a focus in Tropical Medicine from Tulane University.

is a Clinical Geneticist at the Geneva University Hospitals (HUG) and a specialist in rare genetic disorders and genomic medicine. As Chief Resident in the Division of Medical Genetics, she plays a key role in the diagnosis and interpretation of complex genetic diseases and contributes to multidisciplinary Genome Boards focused on neurodevelopmental disorders. Her clinical and research interests include the application of genomic technologies to improve diagnosis and patient care for children with rare diseases. She provides expert guidance on genetic diagnosis, variant interpretation, and precision medicine within the Scientific Advisory Board and supports the Association's efforts to accelerate precision therapies for children with ASNSD.

is Associate Professor of Pediatrics at the University of Geneva and Interim Head of the DIVISION of Pediatric Specialties, as well as Head of the Pediatric Neurology Unit at Geneva University Hospitals (HUG). Internationally recognized for his expertise in pediatric neurology and epilepsy, his research focuses on geneticsand inflammatory mechanisms of childhood epilepsies and on the development of innovative therapies for developmental and epileptic encephalopathies. He has led numerous national and international research collaborations and previously served as President of the SENP+. As a member of the Scientific Advisory Board, Professor Korff provides strategic expertise in pediatric neurology, epilepsy, and the clinical translation of novel therapies for rare neurogenetic disorders.

is Deputy Head Physician in Pediatric Medicine at the Geneva University Hospitals (HUG) and a recognized expert in inherited metabolic disorders. She coordinates the HUG expert centre for pediatric metabolic diseases and is actively involved in precision medicine initiatives for rare disorders, including the Neurodevelopment Genome Board. Her clinical work focuses on the diagnosis and management of inborn errors of metabolism, helping translate advances in genomic medicine into improved care for children with rare diseases. As a member of the Scientific Advisory Board, she provides expertise in metabolic disease biology and clinical management.