PHOENIX, Ariz. March 20, 2013 Dr. Lisa Baumbach-Reardon, an Associate Professor at the Translational Genomics Research Institute (TGen), will lead a panel discussion about Arthrogryposis (ARGY) today at the 2013 American College of Medical Genetics (ACMG) Annual Clinical Genetics Meeting.
Arthrogryposis is a complex congenital disorder associated with stunted muscular development. It is characterized by multiple contractures, stiff joints and limited movement in multiple parts of the body, usually in the arms and legs. It occurs in nearly 1 in every 3,000 births, and children are often born with the condition with no pre-birth indications.
"This is an area of medical study ripe for new genomic investigations," said Dr. Baumbach-Reardon, who is one of the co-monitors of the conference session, Advances in Classification: Genetic Diagnosis and Understanding of Arthrogryposis and Related Fetal Movement Disorders.
The session, scheduled for 10 a.m. Wednesday, March 20, at the Phoenix Convention Center, will focus on recent advances in clinical classification, genetic causes and the underlying biology of ARGY.
"Arthrogryposis is not a diagnosis, but a sign," said Dr. Judith Hall of the University of British Columbia Medical School, the other co-monitor of the panel and a former President of the American Society of Human Genetics. Treatment of Arthrogryposis should begin as soon as 6-8 weeks after conception, said Dr. Hall, yet nearly 75 percent of children with the condition remain undiagnosed prior to birth.
Other panel speakers are: Dr. Anna Sarkozy of Newcastle University in the United Kingdom, and Mar Tulinius of Sahlgrenska University Hospital in Sweden.
Dr. Baumbach-Reardon is an American Board of Medical Genetics (ABMG) certified scientist in Clinical Molecular and Biochemical Genetics. Her main research areas are the molecular basis of a number of inherited neurological and neuromuscular diseases, and the genetic basis of African-American breast cancer.
In October 2011, Dr. Baumbach-Reardon joined TGen's Integrated Cancer Genomics Division. She conducts groundbreaking work in the genomics of infantile motor-neuron diseases and of breast cancer, and is developing TGen's Dorrance Clinical Laboratory, the institute's new federally certified CLIA (Clinical Laboratory Improvement Act) DNA lab.
The ACMG conference, which began Monday, is scheduled to continue through Saturday.
|Contact: Steve Yozwiak|
The Translational Genomics Research Institute