Susan J. Hayflick, M.D., Ph.D.
Professor & Chair
Molecular & Medical Genetics
Professor, Pediatrics and Neurology
Oregon Health & Science University
Susan Hayflick is a medical doctor and professor as well as Chairman of the Department of Molecular & Medical Genetics at the Oregon Health & Science University in Portland. She also is a professor of pediatrics and neurology.
Dr. Hayflick has been studying NBIA since 1991. Her lab, working with the labs of collaborators discovered the NBIA genes, PANK2, PLA2G6, FA2H, and WDR45. Her research is focused on gaining sufficient understanding of the NBIA disease process to enable the development and testing of new therapies.
The Hayflick lab has received research support from the NBIA Disorders Association, the NIH (NEI, NINDS & NICHD), the Association Internationale de Dystrophie Neuro Axonale Infantile, the Associazione Italiana Sindromi Neurodegenerativi da Accumulo di Ferro, the European Commission, as well as from numerous families from around the world. Hayflick has authored numerous articles about NBIA. She also provides clinical consultation to families and physicians around the world who are caring for people with NBIA.
Penny Hogarth, M.D.
Associate Professor of Neurology and Molecular & Medical Genetics
Oregon Health & Science University
Penelope Hogarth, MD, is a neurologist and associate professor at Oregon Health & Science University. She completed medical school and residency training at the University of Colorado. After completing a fellowship in movement disorders and clinical research trial design at the University of Rochester in New York, she relocated to Portland, Oregon. In addition to studying NBIA and PKAN, her research interests extend to Huntington’s disease, Parkinson’s disease, and dystonia. Dr. Hogarth follows adult patients undergoing deep brain stimulation and is an investigator in national studies of Parkinson’s disease and other movement disorders.
Robin Ketteler, Ph.D.
Professor for Biochemistry
Medical School Berlin
Department of Human Medicine
Dr. Robin Ketteler is currently Professor for Biochemistry at the Medical School Berlin (MSB) and holds an honorary Professorship at University College London. He has been recognized as a leader in high-content biology and CRISPR genome editing, with an emphasis on studying the early steps in autophagy, the natural process by which the body cleans out damaged and redundant cells.
The Ketteler lab is developing therapeutic approaches to target the autophagy pathway in cancer and neurodegenerative disorders. These include the use of patient-derived cells and the use of induced pluripotent stem cells—a type of skin or blood cell capable of developing into any type of human cell—for disease modeling and drug screening.
Prof. Ketteler received his PhD from the Max-Planck Institute for Immunobiology and Albert-Ludwig University in Freiburg, Germany, and trained as postdoc at Massachusetts General Hospital in Boston before starting his lab at University College London in 2009. In 2022, he moved to Germany and the Medical School Berlin where he continues his work on autophagy and drug discovery. The Ketteler lab has received funding from the NBIA Disorders Association, the University of Pennsylvania Orphan Disease Center’s Million Dollar Bike Ride grant program, as well as from the UK Medical Research Council, the Biotechnology and Biological Sciences Research Council and the Wellcome Trust.
Paul T. Kotzbauer, M.D., Ph.D.
Associate Professor, Dept. of Neurology
Washington University School of Medicine
St. Louis, Missouri
Paul T. Kotzbauer, MD, PhD, is an assistant professor in the Department of Neurology at Washington University School of Medicine in St. Louis, Missouri, where he completed medical school and earned his doctorate in neuroscience. He received further training in neurology and movement disorders at the University of Pennsylvania. Kotzbauer sees patients in the Movement Disorders Center at Washington University, and his research focuses on Parkinson’s disease and NBIA.
Roberta Leonardi, Ph.D.
Associate Professor, BMM Graduate Co-Director
Department of Biochemistry and Molecular Medicine
West Virginia University, Morgantown, West Virginia
Dr. Roberta Leonardi is an associate professor in the Biochemistry and Molecular Medicine (BMM) Department at West Virginia University in Morgantown, where she also co-directs the BMM PhD program.
She has extensive experience in characterizing the biochemical, structural, and regulatory properties of coenzyme A (CoA), as well as the function of enzymes involved in the synthesis and degredation of CoA and its compounds. PKAN, one of the most common forms of NBIA, is caused by an inborn error of CoA metabolism. Leonardi's laboratory uses a combination of biochemical, genetic, and metabolic approaches to study the effect CoA enzymes have on various organs.
A native of Italy, Leonardi received her doctorate in biochemistry from Southhampton University, UK, and trained as a postdoctoral fellow at St. Jude Children's Research Hospital in Memphis, Tennessee, before joining West Virginia University.
Amy Sun MD, PhD, MBA, FACP
Luye Pharmaceuticals, Inc.
Princeton, NJ 08540
Dr. Sun, a Fellow of the American College of Physicians, is Board certified in Internal Medicine with specialty training in Endocrinology and Clinical Pharmacology, and with a Ph.D. in Molecular Pharmacology. Dr. Sun has extensive experience in managing both early and later phase global clinical trials across therapeutic areas, including endocrinology, oncology, women’s health care and cardiovascular diseases. She has contributed to five NDAs/ BLA, numerous INDs, and global regulatory submissions, which lead to the market authorization of a number of therapeutic agents including the first marketed immono-oncology anti PD1 drug, pembrolizumab.
Dr. Sun is VP, Head of Global Clinical Development at Luye Pharma in Princeton, New Jersey. Prior to that she was a senior medical director at Sanofi.
Dr. Sun graduated from SouthEast University Medical School in China, completed her medical residency at Creighton University, and endocrinology fellowship Institutes of Health. She obtained her PhD from Creighton University, and MBA from Lehigh University.
Valeria Tiranti, Ph.D.
Molecular Pathology of Mitochondrial Disorders Lab
Unit of Medical Genetics and Neurogenetics
IRCCS Neurological Institute Carlo Besta
Dr. Valeria Tiranti, PhD, leads the Molecular Pathology of Mitochondrial Disorders lab at the IRCCS Foundation Neurological Institute Carlo Besta in Milan, Italy. This internationally recognized center in neuroscience is involved in diagnosing and treating neurological disorders in adults and children. It also carries out basic and clinical research in neurology.
Tiranti’s expertise is in mitochondrial and metabolic disorders, including identification of disease genes, molecular and cellular biology, and identification of mechanisms that cause disease. Her group has studied various mouse models, including the impact of drug treatments on sick mice. She joined the NBIA field some years ago and is working to define the role of mitochondria in neurodegeneration by studying cellular and animal models.
Tiranti graduated from the University of Milan with a biology degree and a specialization in medical genetics.