Barbara Burton, MD

Ms. Burton graduated in 1973 from Northwestern University Feinberg School of Medicine (formerly Northwestern University Medical School), where she is currently a Professor of Pediatrics. She completed her pediatric residency fellowship in genetics and is a Clinical geneticist at Children’s Memorial Hospital. Her clinical expertise encompasses the treatment of various genetic disorders, including Gaucher disease, Fabry disease, mucopolysaccharidoses, phenylketonuria (PKU), galactosemia, glycogen storage diseases, inborn errors of metabolism, Marfan syndrome, neurofibromatosis, neurogenetic disorders, and skeletal dysplasia.

Dr. Gregory Pastores

Dr. Gregory Pastores is a staff member at the Mater Misericordiae University Hospital in Dublin, Ireland. He previously held the position of Associate Professor in Neurology and Pediatrics at the NYU School of Medicine in New York City. Additionally, he serves as the Director of the Neurogenetics Laboratory within the Department of Neurology at NYU. Dr. Pastores obtained his medical degree from the University of Santo Tomas in Manila in 1983. He completed his residency training in Pediatrics and Genetics at Mount Sinai Medical Center in New York in 1989, followed by further training at the Mayo Clinic in Minnesota in 1991. Aside from being Board Certified in Pediatrics (1989), he is also certified in Clinical Genetics (1993) and Clinical Molecular Genetics (1993). Dr. Pastores possesses extensive clinical and research expertise in the diagnosis and management of patients with lysosomal storage disorders and inherited diseases that predominantly affect individuals of Ashkenazi Jewish ancestry.

Prof. Grzegorz Wegrzyn

Professor Grzegorz Wegrzyn serves as the Head of the Laboratory of Molecular Genetics, the Head of the Department of Molecular Biology, and the Dean of the Faculty of Biology, Geography, and Oceanology at the University of Gdansk in Poland. Additionally, he holds the position of Vice-President for Research Affairs at the University of Gdansk. Professor Wegrzyn’s research group, based in the Department of Molecular Biology, has discovered that genistein may reduce the pathological accumulation of glycosaminoglycans associated with Sanfilippo syndrome. In vitro studies, animal research, and clinical trials indicate that symptoms of this condition may be mitigated through an appropriate dosage of genistein. Furthermore, Professor Węgrzyn is an active member of the Polish Mucopolysaccharidosis (MPS) patient association and has a daughter with MPS type I.

Dr. Ozlem Goker-Alpan, MD

Dr. Ozlem Goker-Alpan is the founder and president of LDRTC, a non-profit organization focusing on Lysosomal Disorders and other rare diseases. She established LDRTC in 2013 with the vision of providing quality care to individuals with rare diseases by offering clinical care and translational research under one roof.

Dr. Goker-Alpan obtained her medical degree in 1990 from Marmara University School of Medicine in Istanbul, Turkey, graduating top of her class. She completed her pediatric training as a Pediatric Chief Resident at SUNY Stony Brook, New York. She then pursued her first Clinical and Biochemical Genetics fellowship at the National Institutes of Health, Greater Washington Medical Genetics Program, in 1999. She served as an adjunct scientist at the National Child Health Institute. Following this, her second fellowship focused on Lysosomal Storage Disorders and Gaucher disease at the Clinical Neuroscience Branch, National Institute of Mental Health (NIMH), NIH. She also coordinated the NIH Gaucher Clinic at the Medical Genetics Branch of the National Human Genome Research Institute (NHGRI).

Dr. Goker-Alpan’s commitment to the future of healthcare in the field of Lysosomal Storage Disorders are evident in her dedication to education and training. As an established clinician and translational scientist, she is focused on providing individualized care and treatment for patients with LSDs and rare diseases. Under her leadership, LDRTC has completed multiple scientific projects exploring immune athways and lysosomal functions to develop new diagnostic and monitoring tools in LSDs and GBA-related Parkinsonism. She also serves on the scientific advisory boards of multiple pharmaceutical companies and patient advocacy organizations.