Doctor Database

In conjunction with our research efforts, we are aggressively building awareness of the disease among physicians. Given the high rates of mis-diagnosis and under-diagnosis, education is imperative. Specifically, we are targeting physicians who are treating diseases with similar symptoms, such as prostate cancer. As urinary issues are some of the first to present in APBD patients, urologists may be the first physicians to see these patients and can be the first in line for correct diagnosis and treatment.

Unfortunately, APBD is not yet well known or well understood among urologists, or for that matter, among neurologists and other physicians who may unknowingly treat APBD patients for their symptoms and not the underlying condition. Therefore, we are actively conducting targeted education campaigns at national clinical meetings, comprehensive physician mailings, and continuing education seminars.

The APBDR Foundation is pleased to publish a list of physicians who have self-identified as having knowledge of, or experience with, APBD.  The publication of this list by the APBDR Foundation is not intended as, nor does the publication constitute, the recommendation, approval or endorsement, by the APBDR Foundation of any of the physicians whose names appear on the list.


United States


Brent Fogel, MD, PhD

Assistant Professor
Director, Ataxia and Neurogenetics Biobank Program
Department of Neurology
Program in Neurogenetics

David Geffen School of Medicine University of California, Los Angeles



Lake Forest

Charulatha P. Nagar MD

Health system Clinician

Ken And Ruth Davee Dept of Neurology

Northwestern University Feinberg School of Medicine




Gerald Raymond, M.D.

Kennedy Krieger Institute

Johns Hopkins University




Christopher Klein, M.D.

Department of Neurology

Mayo Clinic

Dr. Dyck

Dr. Singer




Douglas C. Miler, M.D., Ph.D.

Clinical Professor of Pathology and Anatomical Sciences

University of Missouri School of Medicine


New York

New York City

Salvatore DiMauro, M.D.

Professor of Neurology

Director of H. Houston Merritt Clinical Research Center

Columbia University and Columbia Presbyterian Medical Center



Heather A Lau, M.D., M.S.

Assistant Professor, Child Neurology
Director, Lysosomal Storage Disorders Program
Division of Neurogenetics

Department of Neurology, NYU Langone Medical Center



Marvin Natowicz, M.D., Ph.D.

Clinical Pathology

Cleveland Clinic




Raphael Schiffmann, M.D.

Director of The Institute of Metabolic Disease

Baylor Research Institute and Baylor University






Berge Minassian, M.D. 

The Hospital for Sick Children

Toronto University




Fanny Mochel, M.D.

Department of Genetics

Brain and Spine Institute – Groupe Hospitalier Pitié-Salpêtrière




Alexander Lossos, M.D.

Department of Neurology

Hadassah Medical Center


Tel Aviv

Mia Horwitz, Ph.D.

Department of Cell Research & Immunology

Tel Aviv University