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Faculty Detail     Name NATHANIEL ROBIN   Campus Address KAUL 210 Zip 0024 Phone 205-934-9528 E-mail nrobin@uab.edu Other websites

Faculty Appointment(s) Appointment Type Department Division Rank Primary  Genetics   Clinical Genetics Professor Secondary  Pediatrics   Pediatrics Chair Office Associate Professor Secondary  Surgery   Surgery - Otolaryngology Professor Center  General Clinical Research Center  Center for Outcomes & Effectiveness Res & Educ Professor

Biographical Sketch  Dr. Robin completed his MD degree and a pediatric residency at Albert Einstein College of Medicine in Bronx, New York. He was a clinical fellow in the Division of Human Genetics and Molecular Biology and the Division of Biochemical Genetics at The Children’s Hospital of Philadelphia, Pennsylvania, where he also served a research fellowship in the laboratory of Max Muenke. Dr. Robin has two primary activities within the Department of Genetics. First, he has an active clinical genetics practice. While he sees patients for any indication, his main interests are in clefting and craniofacial genetics, and adult genetic cardiovascular disease, including Marfan syndrome. His other role is as an educator. He is the director of the genetics residency programs, and supervises all the educational activities of the department with respect to the University of Alabama School of Medicine (UASOM) as well as all other UAB residency programs. Dr. Robin is also very active in the UAB School of Medicine, where he is co-director for the Fundamentals I module and lectures throughout years 1-4. He is currently Chair of the Faculty Council (UABSOM Appointments, Promotions, and Tenure Committee).

Society Memberships Organization Name Position Held Org Link American College of Medical Genetics      American Society of Human Genetics

Research/Clinical Interest Title RESEARCH: Oro-facial clefting and craniofacial genetics; genetics of deafness; syndrome delineation; clinical use of genetic testing. CLINICAL: General clinical genetics, with a focus on oro-facial clefting and craniofacial disorders; adult cardiovas Description In general, my research flows from my clinical and educational activities. The overarching focus of my research interests focus on how we are translating the advances made in the basic science understanding of the human genome into clinical practice. Recently, we have carried out several studies on how non-genetics clinicians are utilizing genetic testing in their practices. These studies have revealed interesting trends among these groups of physicians, highlighting the need for increased education. We are currently involved in several studies that are exploring the role of genetic mutations in clinical variation. In one, we are looking at the possible role of known clefting genes in predicting the speech outcome of cleft palate surgery. In another, we are trying to determine if variations within these same genes influence the occurrence of clefting in velocardiofacial syndrome, a disorder in which cleft palate occurs in many, but not all affected patients. In another study we are looking at the possible benefits of role playing for medical students in order to educate them on the genetic counseling process.

Selected Publications  Publication PUBMEDID Rutledge KD, Grant JH, Robin NH (2010). IRF6 mutations in mixed isolated familial clefting Am J Med Genet 152A:3107-9.  21082654   Gallego C, Grant JH, Mikhail F, Barger C, Robin NH (2010). The use of array comparative genome hybridization in oro-facial clefting. Cleft Pal J. 21:1591-4.  20856054   Robin NH Rutledge KD, Ray P, Grant JH (2010) Further delineation of the Kapur Toriello syndrome. Am J Med Genet. 152A:1013-5.  20358618   Goldfarb CA, Sathienkijkanchai A, Robin NH (2009). Amniotic Constriction Band: A Multidisciplinary Assessment of Etiology and Clinical Presentation. J Bone Joint Surg 91 Suppl 4:68-75.   19571071   Chen M-J, Lose EJ, Robin NH (2008). General pediatrician’s use of genetic testing in evaluating children with developmental delays. Am J Med Genet. 146:421-5.  18203192

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