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- Posted Wednesday March 20, 2013
TGen researcher leads distinguished international panel at genetics conference in Phoenix
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.
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About TGen
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.
Press Contact:
Steve Yozwiak
TGen Senior Science Writer
602-343-8704
[email protected]
