| Alzheimers |
Don Hadley, M.S., C.G.C. (Adjunct Investigator) |
| Congenital Disorders of Glycosylation (CDG) |
Dr. Donna Krasnewich |
| Fredrich's Ataxia |
Dr. Kenneth Fischbeck (Adjunct
Researcher) |
| Grieg Cephalopolysyndactyly Syndrome |
Dr. Leslie Biesecker |
| Hereditary Inclusion Body Myopathy |
Dr. Marjan Huizing |
| Hereditary Motor Neuron Disease |
Dr. Kenneth Fischbeck (Adjunct
Researcher) |
| Inborn errors of embryonic development |
Dr. Stacie Loftus |
| Kennedy's Disease |
Dr. Kenneth Fischbeck (Adjunct
Researcher) |
| Lenz Microphthalmia Syndrome |
Dr. Leslie Biesecker |
| McKusick-Kaufman Syndrome |
Dr. Leslie Biesecker |
Multiple Endocrine Neoplasia Type 1 (MEN1)
(Hereditary Cancer Syndrome) |
Dr. Settara C. Chandrasekharappa |
| Papillon-Lefevre Syndrome |
Dr. Suzanne Hart |
| Polyglutamine Expansion Diseases |
Dr. Kenneth Fischbeck (Adjunct Researcher) |
| Sarcoma |
Dr. Paul Meltzer (Adjunct Investigator) |
| Spinocerebellar Ataxia |
Dr. Kenneth Fischbeck (Adjunct Researcher) |
| Wiskott-Aldrich Syndrome |
Dr. Fabio Candotti
Dr. Pamela Schwartzberg |
| X-Linked Agammaglobulinemia |
Dr. Pamela Schwartzberg |
| X-Linked Lymphoproliferative Syndrome |
Dr. Pamela Schwartzberg |
| Zimmerman-Laband Syndrome |
Dr. Suzanne Hart |