Research on Pallister-Hall Syndrome

To my knowledge, my laboratory is the only one in the world actively studying Pallister-Hall syndrome. [Other laboratories are studying the gene (GLI3) that is known to cause Pallister-Hall syndrome when it is altered. Those laboratories include that of Dr. Karl-Heinz Grzescik of Germany and Dr. Stylios Antonarakis of Switzerland.] In my own laboratory and at the National Institutes of Health Clinical Center, we are trying to understand the full range of effects of alterations in the GLI3 gene, including Pallister-Hall syndrome and the related disorders of Greig Cephalopolysyndactyly syndrome and Post-axial Polydactyly type A. We do this by evaluating affected patients and their relatives in the clinic and the hospital including physical examinations, X-ray and other imaging studies, hormone tests, vision testing, and others. In this way we can learn how the disorder affects patients so that we can devise better ways of monitoring and treated affected persons. In addition to the clinical evaluations, we also perform molecular research on the genetic cause of the disorders and how the genetic alterations lead to the altered development of body structure and function.

A medical synopsis of these disorders is available through Online Mendelian Inheritance in Man, the electronic catalog of inherited human medical conditions.