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NBIA Disorders Association
Scientific & Medical Advisory Board
Scientific & Medical Advisory Board, NBIA Disorders Association
First Row: Drs. Leslie Shinobu, Penny Hogarth, L. Amy Sun;
Second Row: Drs. Susan Hayflick, Paul Kotzbauer, Pierre Castelnau.
Advisory Board member Steven Richieri is not pictured
 
New scientific and medical advisory board;
includes prominent NBIA researchers

The NBIA board announced the creation of a Scientific & Medical Advisory Board at its family conference in Gaithersburg, Md. The scientific advisers, including several prominent NBIA researchers, will provide guidance and counsel to the NBIA Disorders Association's Board of Trustees.

The advisers will recommend research policy, serve as peer reviewers for research grant applications and recommend research grants to the board of trustees. As a result, the NBIA board no longer will need the services of the National Organization for Rare Disorders when it needs to review applications for grants. That service cost $5,000 per grant. 

The advisory board will also provide guidance and counsel in matters regarding medical affairs and will recommend which applications should be approved for using BioBank samples.

Dr. Susan Hayflick, who has worked closely with our organization since its inception, will direct the advisory board. Here is a closer look at her credentials and those of the other members:
 
Director: 
 
Susan J. Hayflick, M.D.

Professor & Interim 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 for 18 years. Her lab, working with the labs of Dr. Jane Gitschier at the University of California at San Francisco and Dr. Eamonn Maher at the University of Birmingham, UK, discovered the NBIA genes, PANK2 and PLA2G6. Her research is focused on gaining sufficient understanding of the NBIA disease process to enable testing rational therapies.

The Hayflick lab has received research support from the NBIA Disorders Association, the NIH (NEI, NINDS & NICHD), and the Association Internationale de Dystrophie Neuro Axonale Infantile, as well as from numerous families from around the world. Hayflick has authored numerous articles about NBIA. Her research focus is on genetic defects that underlie altered brain iron metabolism. She also provides clinical consultation to families and physicians around the world who are caring for people with NBIA.

  
Board:
 
Penny Hogarth, M.D.
Associate Professor of Neurology and Molecular & Medical Genetics
Oregon Health & Science University
Portland, Oregon

Penny Hogarth is a medical doctor, neurologist and an associate professor at the Oregon Health & Science University

Dr. Hogarth is working closely with Hayflick on PKAN research and received a grant from the National Organization for Rare Disorders sponsored by NBIA Disorders Association.

In addition to studying NBIA and PKAN, her research interests extend to Huntington disease, Parkinson disease and dystonia. She follows adult patients undergoing deep brain stimulation and is an investigator in national clinical studies of Parkinson and Huntington disease.
 
Paul T. Kotzbauer, M.D., Ph.D.

Asst. Professor, Dept. of Neurology

Washington University School of Medicine

 St. Louis, Missouri

kotzbauerp@neuro.wustl.edu
Paul T. Kotzbauer is a medical doctor and Ph.D. He is an assistant professor in the department of neurology at the Washington University School of Medicine, St. Louis, Mo.

Kotzbauer first became interested in NBIA during his postdoctoral research fellowship at the Center for Neurodegenerative Disease Research at the University of Pennsylvania. There he studied the accumulation of misfolded protein in the brain during neurodegeneration, which is an important neuropathological feature of Parkinson’s disease and Alzheimer’s disease. Accumulation of misfolded protein also occurs in NBIA and suggests that there may be common mechanisms underlying NBIA, Parkinson’s and Alzheimer’s diseases. 

Over the last several years, Kotzbauer has been trying to understand the function of 
PANK2 in the brain, with the goal of determining the mechanisms by which mutations in the PANK2 gene lead to accumulation of misfolded protein and neurodegeneration in NBIA. This focus on disease pathogenesis may reveal ways to slow or stop the progression of NBIA and other neurodegenerative disorders.

In August of 2004 he was awarded an NIH Career Development Grant to support his research on NBIA disorders. In June, Kotzbauer moved to Washington University School of Medicine where he is starting a neurodegenerative disease research laboratory focused primarily on NBIA disorders. His research involves collaborations with Hayflick and Gitschier. He will also continue to see patients with movement disorders.

Steven P. Richieri

Senior Vice President

PhotoThera, Inc.

Carlsbad , California

srichieri@beachhead.com

Steven P. Richieri is currently a Senior Vice President for PhotoThera, Inc., a  start-up medical device company focused on developing non-invasive laser treatments for debilitating disease conditions, in Carlsbad, CA.  Mr. Richieri is a senior executive with strong start-up and biomedical company experience. He has more than 20 years of experience in the health care industry, and has a broad background in biotechnology, pharmaceutical and medical device product development and research.

Mr. Richieri also has extensive experience in the US Food and Drug Administration’s regulatory process and has been responsible for taking a number of products from the research laboratory to the clinic for stroke, HIV, autoimmune diseases, cancer, and allergic rhinitis. 

He is the co-founder of American Life Science Pharmaceuticals, a start-up drug discovery company focused on finding novel therapeutics to treat neurodegenerative and age-related disorders and NuVista Technology Corporation, a privately held medical device company.  He has also held senior executive positions at Egea Biosciences, Inc. (a privately held company sold to the Johnson and Johnson Corporation in May 2004), The Immune Response Corporation and Dura Pharmaceuticals. Mr. Richieri is also a co-founder of Beachhead, LLC., a consultant group which provides industry and management expertise to start-up and development stage healthcare and discovery tools companies.  

His experience in the biotechnology and pharmaceutical industry brings another dimension of expertise to our board.
 
 

Leslie Shinobu, M.D., Ph.D.

Vice President, Clinical Research
Link Medicine
Cambridge, Massachusetts
leslie@linkmedicine.com

Leslie Shinobu is a medical doctor and has a Ph.D in chemistry. She is currently with a biotechnology start-up called Link Medicine.  She has prior experience in the biotech industry with Biogen Idec and Serono, Inc.  A specialist in movement disorders, she is also a member of the Massachusetts General Hospital Parkinson's disease & Movement Disorders Center.

She was an invited participant of the First Scientific Workshop in 2000 and was a speaker at the first Family Conference on treatment options for dystonia.
 

Lu Amy Sun M.D., Ph.D., F.A.C.P.
Director, siRNA Therapeutics
Experimental Medicine
Merck & Co., Inc.
UG4D-34
351 N. Sumneytown Pike
North Whales, PA 19454-1099
Phone: 267 305-1350
E-Mail: amy_sun@merck.com

L. Amy Sun is a medical doctor, a Fellow of American College of Physician, and holds a Ph.D. In addition, she is an associate medical director at Procter & Gamble Pharmaceuticals in Mason, Ohio.

Sun is a board certified internist with specialty training in clinical pharmacology and endocrinology. Her Ph.D. is in molecular pharmacology and human genetics. In her job at Procter & Gamble, she is responsible for early phase clinical trials of new drugs. She is involved in strategic designing of clinical studies, monitoring the safety, and preparing the documents for submitting to the Food and Drug Administration.

Sun has reviewed grants for the National Institutes of Health and has peer-reviewed many journal articles. She attended the Second Scientific Workshop to learn about NBIA and to meet the families at the Family Conference in May.
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