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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 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 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 UAB School of Medicine as well as all other UAB residency programs. Dr. Robin is also very active in the pre-clinical education at 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.

Selected Publications 
Publication PUBMEDID
Rojnueangnit K, Robin NH (2013).Craniosynostosis and radial ray defect: A rare presentation of 22q11.2 deletion syndrome. Am J Med Genet A. 161:2024-6.  23813949  
Holt RL, Tofil NM, Hurst C, Youngblood AQ, Peterson DT, Zinkan JL, White ML, Clemons JL, Robin NH (2013). Utilizing high-fidelity crucial conversation simulation in genetic counseling training. Am J Med Genet A. 161:1273-7.   23633180  
Staub M, Leon K, Robin NH (2013). Educating Adolescents and Young Adults with Cystic Fibrosis Concerning their Reproductive Risks and Options. Chest 143(2):580.  23381333  
Sutton AL, Robin NH. (2012). Clinical application of whole exome sequencing: not (yet) ready for primetime. Curr Opin Pediatr. 24:663-4.  23080129  
Robin NH, Reid Sutton V, Caldwell J, Jackson J, Irons M, Demmer L (2012). The development and implementation of an in-service exam for medical genetics residency programs. Genet Med.14:552-7.   22281936  
Robin NH (2011) Dysmorphology in the era of whole exome sequencing. Curr Opin Pediatr. 23:579-80.  21946345