Unit on Pediatric Genetics

Head: Stephen G. Kaler

Stephen Kaler’s Unit on Pediatric Genetics works on three main projects: (1) copper transport disorders, including X-linked recessive Menkes’ disease and its allelic variant, occipital horn syndrome; (2) the PHACES syndrome of midline developmental abnormalities; and (3) the platelet glycoprotein adhesion complex GPIbalpha-GPIbbeta-GPIX. In the case of Menkes’ disease, the section has been investigating the effects of early diagnosis and treatment by conducting a clinical trial; the section evaluates patient materials using cellular and molecular bench methods. The investigators also studied a female child with PHACES syndrome and documented skewed X chromosome inactivation in the family. In conjunction with the pronounced female gender bias in this condition, the results suggest inheritance of the syndrome as an X-linked lethal trait. The group also continues to pursue characterization of the platelet glycoprotein GP1b beta, attempting to express and purify the protein for crystallographic confirmation of its proposed structure and for generation of neutralizing antibodies that may be active in modulating the platelet adhesion response in patients at risk for thromboembolic events.  

Resources

• Employee Listing
• E-Mail the Lab: sgk@box-s.nih.gov
• UPG Home Page