English

Our Scientific & Medical Advisory Board

Director


Susan J. Hayflick, M.D.

Susan J. Hayflick, M.D.Professor & Chair
Molecular & Medical Genetics
Professor, Pediatrics and Neurology
Oregon Health & Science University
Portland, Oregon
hayflick@ohsu.edu

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.


Board

Penny Hogarth, M.D.Penny Hogarth, M.D.
Associate Professor of Neurology and Molecular & Medical Genetics
Oregon Health & Science University
Portland, Oregon
hogarthp@ohsu.edu

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.Robin Ketteler, Ph.D.
Professor of Translational Cell Biology
Manager, High-Content Screening Core Facility
Laboratory for Molecular Cell Biology
University College London
r.ketteler@ucl.ac.uk

Dr. Robin Ketteler is a professor of translational cell biology and the manager of the High-Content Screening Core Facility at the Laboratory for Molecular Cell Biology (LMCB) 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 modelling and drug screening.

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. 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.Paul T. Kotzbauer, M.D., Ph.D.

Associate Professor, Dept. of Neurology
Washington University School of Medicine
St. Louis, Missouri
kotzbauerp@neuro.wustl.edu

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.


Amy Sun MD, PhD, MBA, FACPAmy Sun MD, PhD, MBA, FACP
Vice-President
Luye Pharmaceuticals, Inc.
Princeton, NJ 08540
ams512@alum.lehigh.edu

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.Valeria Tiranti, Ph.D.
Molecular Pathology of Mitochondrial Disorders Lab
Unit of Medical Genetics and Neurogenetics
IRCCS Neurological Institute Carlo Besta
Milan, Italy
Valeria.Tiranti@istituto-besta.it

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.

 

 

Donate Now

Sign-up for our Newsletter