INDIANAPOLIS The gene for a newly recognized disease has been identified thanks to the determination of an Amish father and the clinical skills and persistence of Indiana University and Riley Hospital for Children physicians in collaboration with physicians and researchers at the Clinic for Special Children in Lancaster County, Penn., which specializes in disorders of the Amish.
The identification of the new multisystem autoimmune disorder and the recessive gene that causes it have been published early online and are reported in the 12 March 2010 print issue of the American Journal of Human Genetics.
The quest began when Jean P. Molleston, M.D., examined a young Amish boy whose family was looking for answers to why the child was not growing well, was developmentally delayed, had chronic diarrhea, and looked different from other children. In spite of numerous medical tests, which confirmed an enlarged liver and spleen, the cause of his multiple medical problems went undefined.
The search gained impetus for Dr. Molleston, an IU School of Medicine professor of pediatrics and Riley Hospital gastroenterologist, when a younger sibling was born with the same characteristics. Shortly thereafter, it also was recognized that a young cousin had similar problems.
Dr. Molleston and her colleagues had three cases and they reached out to Eric Puffenberger, Ph.D., Kevin Straus, M.D., and Holmes Morton, M.D., at the Clinic for Special Children, an innovative clinic dedicated to the unique needs of the Amish which employs cutting edge technology to search for genetic disorders. Blood samples and medical data on the children were sent for analysis. There experts were able to determine that an area of chromosome 20 was abnormally prominent in all three boys but not in unaffected children.
At this time Dr. Molleston and then IU School of Medicine pediatric resident Naomi Lohr, M.D., with the help of the father of the first c
|Contact: Cindy Fox Aisen|
Indiana University School of Medicine