- Posted Wednesday March 20, 2013
Speakers explore latest findings about children born with limited mobility
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.
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About the ACMG and ACMG Foundation
Founded in 1991, the American College of Medical Genetics and Genomics (www.acmg.net) advances the practice of medical genetics and genomics by providing education, resources and a voice for more than 1,600 biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other healthcare professionals committed to the practice of medical genetics. ACMG's activities include the development of lab-oratory and practice standards and guidelines, advocating for quality genetic services in healthcare and in public health, and promoting the development of methods to diagnose, treat and prevent genetic disease. Genetics in Medicine, published monthly, is the official ACMG peer-reviewed journal. ACMG's website (www.acmg.net) offers a variety of resources including Policy Statements, Practice Guidelines, Educational Resources, and a Find a Geneticist tool. The educational and public health programs of the American College of Medical Genetics are dependent upon charitable gifts from corporations, foundations, and individuals. The ACMG Foundation for Genetic and Genomic Medicine (www.acmgfoundation.org), a 501(c)(3) nonprofit organization, is a community of supporters and contributors who understand the importance of medical genetics and genomics and genetic counseling in healthcare. Established in 1992, the ACMG Foundation supports the American College of Medical Genetics and Genomics' mission to "translate genes into health" by raising funds to promote the profession of medical genetics and genomics to medical students, to fund the training of future medical geneticists, to support best-practices and tools for practicing physicians and laboratory directors, to promote awareness and understanding of our work in the general public, and much more.
The Translational Genomics Research Institute (TGen) is a Phoenix, Arizona-based non-profit organization dedicated to conducting groundbreaking research with life changing results. Research at TGen is focused on helping patients with diseases such as cancer, neurological disorders and diabetes. TGen is on the cutting edge of translational research where investigators are able to unravel the genetic components of common and complex diseases. Working with collaborators in the scientific and medical communities, TGen believes it can make a substantial contribution to the efficiency and effectiveness of the translational process. For more information, visit: www.tgen.org.
TGen Senior Science Writer