Dr. Martin has several clinical research interests. His most recent endeavor has focused on the establishment of a Lysosomal Storage Disease Treatment Center at Washington University. The center will provide a multidisciplinary approach to the evaluation and treatment of patients throughout the midwest with these rare disorders. Combining expertise from a wide range of specialties, patients will be offered treatment modalities previously unavailable or undergoing clinical trials, including enzyme replacement therapy and stem cell transplantation.

Dr. Martin is also interested in Overgrowth Syndromes. He is a member of the Washington University's Center for Congenital Overgrowth Syndromes and recently established a patient registry for patients with congenital isolated hemihypertrophy in hopes better delineating the natural history of this disorder. He also participates in the evaluation and treatment of children with Beckwith-Wiedemann Syndrome and Simpson-Golabi-Behmel syndrome.

Another area of active research is his collaboration with colleagues at the University of Pittsburgh and the St. Louis Children's Hospital Craniofacial Clinic in the search for markers of susceptibility to the development of cleft lip. NIH extramural support for this project is pending.

Dr. Martin sits on the editorial board of the American Journal of Medical Genetics, has been appointed by the Governor of Missouri to the Department of Health Genetics Advisory Committee, is a member of the American College of Medical Genetics Program Committee and a member of the Washington Universtity Human StudiesCommittee.

Education

• B.S., Biological Sciences, University of California at Irvine, 1973-1977
• M.S., Genetic Counseling, University of California at Berkeley
• M.D., University of Utah Medical School

Training

• Pediatric Residency University of California at San Diego
• Dysmorphology Fellowship University of California at San Diego

Licensure and Board Certification

• Medical License: Missouri and Pennsylvania
• Diplomat American Board of Medical Genetics: Clinical Genetics 1993, Genetic Counseling 1982
• Diplomat American Board of Pediatrics, 1990, Recertified 1997
• Diplomat American Board of Genetic Counseling, 1993

Selected Publications

1. Saunders S, Martin RA, DeBaun MR (Eds. Epstein CJ, Erickson RP, Wynshaw-Boris A): Glypican-3: Simpson-Golabi-Behmel syndrome. in Molecular Basis of Inborn Errors of Development 2002; Oxford University Press, New York, In press.

2. Martin RA, Slaugh R, Natowicz M, Orvisky E, Krasnewich D, Kleta R, Huizing M, Gahl W: Finnish Type Salla Disease in non-Finnish American twin female sibs. AJMG 2002; In press.

3. Martin RA, Hunter V, Neufeld-Kaiser W, Flodman P, Spence MA, Furnas D, Martin KA: Ultrasonographic detection of orbicularis oris defects in first degree relatives of isolated cleft lip patients. Am J Med Genetics 2000; 90:155-161.

4. Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, de Die-Smulders C, Imaizumi K, Martin RA, Meinecke P, Pierpont MM, Robins NH, Young ID, Roessler E, Muenke M: The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly; SSH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet 1999; 8:2479-2488.

5. Martin RA, Sabol DW, Rogan PK: Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q3-14q24.2). J Med Genet 1999; 36:633-636.

6. Martin RA, Jones KL: Absence of the superior labial frenulum in holoprosencephaly: a new diagnostic sign. J Peds 1998; 133:151-153.

7. Martin RA, Jones KL, Benirschke K: Absence of the lateral philtral ridges: a clue to the structural basis of the philtrum. Am J Med Genetics 1996; 65:117-123.