The Genetics of Complex Medical Disorders

Hakon Hakonarson, Associate Professor of Pediatrics at Penn.

Dr. Hakonarson is the Director of the Center for Applied Genomics at the Children's Hospital of Philadelphia (CHOP), a high-throughput highly automated genotyping facility founded to identify the genetic causes of complex medical disorders in children with the objective of developing new therapies. Genetic diversity and specific environmental exposures contribute to disease susceptibility and drug response variability. The Center is charged with genotyping approximately 100,000 children over a 4 year period. Dr. Hakonarson will address recent advances in the genotyping field.

TIME magazine included research from a team of Penn Medicine and CHOP autism genetics experts among its Top Ten Medical Breakthroughs of 2009. The team first reported that multiple gene variants, both common and rare, may raise the risk of autism spectrum disorders in the journal Nature in April. In June, Penn Medicine autism genetic experts announced that they had identified an additional 27 genetic variations where missing or extra copies of DNA segments were found in children with autism. The research teams include Dr. Gerard Schellenberg, Dr. Maja Bucan, and Dr. Hakonarson, among others.

The luncheon is at 12:00 noon on Tuesday, May 11, 2010, in the Lenape Room of the University Club.