Doctors involved with NPC

Dr. Dan S. Ory M.D.Chair, NNPDF Scientific Advisory BoardWashington University School of Medicine

Dr. Dan S. Ory is a Professor of Medicine, Cell Biology and Physiology at Washington University in St. Louis. Dr. Ory began his scientific training at Harvard College and Harvard Medical School. After completion of his Internal Medicine residency at Brigham and Women's Hospital in Boston and cardiology fellowship at Massachusetts General Hospital in Boston, he pursued postdoctoral training at the Whitehead Institute at MIT. Dr. Ory joined the faculty at
Washington University in St. Louis in 1995.
His research interests in cholesterol biology eventually  led to study Niemann-Pick Type C (NPC) Disease. His early work in the NPC field was supported by the National Niemann-Pick Disease Foundation (NNPDF), and later by the Ara Parseghian Medical Research Foundation (APMRF). Dr. Ory's research in NPC has focused on understanding the role of the NPC protein in cholesterol metabolism and how genetic defects in Niemann-Pick C cause neurodegeneration, and on the development of new approaches to treatment. Dr. Ory has been working with the NPC community for ten years.
Dr. Ory has served on the Scientific Advisory Board for the NNPDF since 2002, and in 2007 was invited to serve as Chairman of the Scientific Advisory Board.

Dr. Ory talked about five areas of research going on right now for NPC:

1) Function of NPC1 & NPC2 proteins in cholesterol transport in lysosomes (Brown & Goldstein lab)

2) Function of NPC1 protein in Purkinjie cell neurons (Scott)

3) Cyclodextrin (Dietschy & Walkley)

4) Analysis of human NPC1 mutations & implications for Chaperon Therapy (Balch & Ory)

5) Identification of NPC Disease Biomarkers (Ory & Porter)

Dr. Steven U. Walkley, D.V.M., Ph.D.
NNPDF Scientific Advisory Board Member
Albert Einstein College of Medicine

Dr. Steven U. Walkley has focused his career on the study of lysosomal disease affecting the brain, an interest that began with his early training in veterinary and comparative medicine and with the identification and development of these diseases in domesticated and laboratory animals. Educated at universities in his native state of Alabama, Dr. Walkley also carried out postgraduate studies at Auckland University in New Zealand, the University of Edinburgh, and the Albert Einstein College of Medicine in New York.

Dr. Walkley joined the faculty of the Albert Einstein College of Medicine in 1982 and to id a professor in the Department of Neuroscience, Pathology, and Neurology. He is also Director of the Sidney Weisner Laboratory of Genetic Neurological Disease in the Rose F. Kennedy Center for Research in Mental Retardation and Human Development. Dr. Walkley has successfully combined skills in veterinary and comparative medicine and in neuropathology and cellular neuroscience in order to address key issues in the study of pathogenic cascades in lysosomal disease of the brain.

Dr. Walkley's laboratory is also focused on studies examining potential treatment strategies for lysosomal diseases, including cell-mediated approaches as well as substrate reduction therapy. His lab spearheaded research on the use of bone marrow transplantation for the treatment of alpha-mannosidosis, as well as for treatment of Niemann-Pick Type C Disease.

Dr. Walkley is widely published in the area of lysosomal diseases affecting the brain. Recently, along with a colleague, Dr. Fran Platt, he edited a new publication on lysosomal disease (Lysosomal Disorders of the Brain, Oxford University Press, 2004). Dr. Walkley serves on the scientific advisory boards of several lysosomal disease groups including the National Niemann-Pick Disease Foundation, The MPS Society, and the ISMRD (International Society for Mannosidosis and Related Disorders). He is also the Scientific Advisor for DART (Dana's Angel's Research Trust). Dr. Walkley is an elected member of the Management Council of the Global Organization for Lysosomal Disease (GOLD) and serves as a member of the Steering Committee for the Lysosomal Disease Network (LDN).

Photo of Dr. Forbes Porter
Dr. Forbes "Denny" Porter, M.D., Ph.D.
National Institutes of Health

Dr. Forbes D. (Denny) Porter is a Senior Investigator at the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health in Bethesda, MD. Dr. Porter earned a combined M.D., Ph.D. degree from Washington University in St. Louis, and trained in both Pediatrics and Clinical Genetics at St. Louis Children's Hospital. Dr. Porter has had his own research groups at the NIH since 1995.
Dr. Porter's main interest is in understanding the pathophysiological processes that underlie genetic disorders. His group is involved in both clinical and basic science. The majority of his work has focused on a syndrome known as the Smith-Lemli-Opitz Syndrome, or SLOS. Children with this syndrome have birth defects, autistic behaviors, and learning deficits. SLOS is caused by a problem in cholesterol synthesis. Over the past three years Dr. Porter has begun to follow patients with NPC at the NIH CC. His goal is to define clinical or biochemical aspects of NPC that could be used as an outcome measure in a future therapeutic trial. (Identification of NPC Disease Biomarkers, listed above.)

Marc C. Patterson, M.D.This is Tylor's doctor!!
Dr. Marc C. Patterson, M.D., F.R.A.C.P.
NNPDF Scientific Advisory Board Member
Mayo Clinic

Dr. Marc C. Patterson was born and educated in Australia. He trained in Internal Medicine, Pediatrics, Adult and Child Neurology at the University of Queensland (Australia) and at Mayo Clinic. His fellowship training was in metabolic diseases at the National Institutes of Health (Developmental and Metabolic Neurology Branch). From NIH he returned to Rochester, MN, where he became Associate Professor of Neurology, Pediatrics, and Adolescent Medicine and Medical Genetics at Mayo Medical School, and Director of the Child Neurology Training Program.

Dr. Patterson was Consultant in the Department of Neurology, Pediatrics and Medical Genetics, Mayo Clinic and Foundation. From January 2001 until June 2007 he was Director of Pediatric Neurology at the Neurological Institute of New York and Children's Hospital of New York-Presbyterian, and Professor of Clinical Neurology and Pediatrics at Columbia University College of Physicians and Surgeons. In July 2007, Dr. Patterson returned to Mayo Clinic. Dr. Patterson's major research interest is in the diagnosis and therapy of inborn errors of metabolism, specifically Niemann-Pick Type C and CDG Syndromes.

Dr. Patterson has been a member of the Scientific Advisory Boards of both the Ara Parseghian Medical Research Foundation and the National Niemann-Pick Disease Foundation since their respective inceptions. He joins us each year at the Family Conference to bring families up to date and answer our questions. He consults with neurologists from the U.S. and abroad who have questions about the diagnosis and management of NPC and related disorders of the nervous system in children.

Dr. Patterson has published numerous original papers, reviews and book chapters in the field of child neurology, and frequently lectures in the U.S. and aboard. He has taught medical students, residents, and fellows in his capacity as Director of the child neurology training program at Mayo and Columbia and is an active participant in educational activities of the American Academy of Neurologyand American Board of Psychiatry and Neurology, where he serves as a senior examiner in the part II (oral) examinations.


Kasturi Haldar

center webpage
Professor, Julius Nieuwland Chair of Biological Sciences
Director, Center for Rare and Neglected Diseases
University of Notre Dame
Massachusetts Institute of Technology (PhD; Biochemistry)
Site of Fellowship: Rockefeller University

Research Interests
Understanding disease pathology and developing treatments in rare and neglected diseases.

Our goal is to convert research findings into therapeutics in rare, inherited disorders as well as neglected infectious diseases. These diseases have generally been ignored by the pharmaceutical industry because the financial rewards for developing new drugs and vaccines to treat them are so insignificant.

In rare diseases we focus on lysosomal disorders such as Niemann Pick Type C (NP-C) and Mucopolysaccharidosis Type III A (MPS IIIA), that result in neurodegenerative disease
We have developed a quantitative, rapid neurobehavioural score by which to measure NP-C disease in mice. Using this scale, we are able to identify unique genetic signatures associated with disease progression, develop biomarkers as well as screen for drugs to treat disease in mice, in order that drugs can be progressed to clinical trials and therapeutic utilization. Parallel studies are underway with MPS IIIA.

We also study how lysosomal compartments in host cells move proteins and lipids to vacuoles of pathogens such as Salmonella. Our research has shown that when Salmonella infects human cells, it stimulates lipid accumulation in lysosomes by targeting a single host protein whose function is now being investigated in lysosomal rare diseases such as Niemann Pick Type C.

Finally, the laboratory has had a long standing interest in malaria. A major emphasis is the human malaria parasite Plasmodium falciparum, which invades and develops in red blood cells to cause disease pathologies that include severe malarial anemia and cerebral disease.

The overall goal is to define unique and fundamental mechanisms in mammalian cells as well as microorganisms, that provide molecular insights, targets and therapies in rare and neglected diseases.
To accelerate the development of therapies we partner with pharmaceutical companies in innovative models of private public partnerships. To this end we have recently signed a collaborative agreement with Eli Lilly & Co for drug discovery and development for Niemann Pick C disease and malaria.

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