Children’s Hospital of Pittsburgh of UPMC Sponsors National Conference for Families of Children With Rare Genetic Disorders

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Children’s Hospital of Pittsburgh of UPMC Sponsors National Conference for Families of Children With Rare Genetic Disorders

Pittsburgh, Pa. - July 17, 2008 -

Children’s Hospital of Pittsburgh of UPMC is sponsoring and helping organize a national conference for families of children with rare genetic disorders.

Under the leadership of Jerry Vockley, MD, PhD, Children’s Hospital’s Division of Medical Genetics has become one of the nation’s leading centers for the diagnosis, treatment and research of genetic diseases, attracting patients from all over the world.

The Fatty Oxidation Disorders (FOD) Family Support Group/Organic Acidemia Association (OAA) National Family Conference will be held Friday, July 18, and Saturday, July 19, 2008, at the Hyatt Regency Pittsburgh International Airport. More than 160 families and approximately 30 professionals from across the United States and Canada are expected to attend.

Children’s is the sponsor of the two-day conference, which will feature talks from genetics experts from around the country aimed at educating families about the latest treatment and research information. Among the speakers are Dr. Vockley, chief of the Division of Medical Genetics at Children’s, and several other experts from the division.

“Relatively speaking, the field of medical genetics is in its infancy, and through our research we are making new discoveries and developing new therapies every year. The completion of the mapping of the human genome also is helping us make tremendous strides in understanding and treating genetic disorders,” Dr. Vockley said. “For patients with genetic conditions and their families, this national conference is a way to learn about these advancements and potentially access breakthroughs in treatment.”

One of the topics Dr. Vockley will discuss at the meeting is expanded newborn screening for genetic disorders. Newborn screening is a simple blood test that can detect disorders that are not immediately apparent after delivery. Each state in the United States requires screening tests, but the specific tests performed vary among the states. The FOD Family Support Group and OAA, as well as Dr. Vockley, advocate expanding newborn screening to identify genetic disorders, which individually are rare, but collectively common, affecting three of every 1,000 children born.

Fatty oxidation disorders are genetic metabolic deficiencies in which the body is unable to oxidize (break down) fatty acids to make energy because an enzyme either is missing or not working correctly. If undiagnosed and untreated, these disorders can lead to serious complications affecting the liver, heart, eyes and general muscle development, and possibly death.

Organic acid disorders are a group of rare inherited conditions. They are caused by enzymes that do not work properly. A number of enzymes are needed to process protein from the food we eat for use by the body. Problems with one or more of these enzymes can cause an organic acid disorder. People with organic acid disorders cannot break down protein properly. This causes harmful substances to build up in their blood and urine. These substances can affect health, growth and learning.

Contacts:

Marc Lukasiak, 412-692-7919 or 412-692-5016, Marc.Lukasiak@chp.edu
Melanie Finnigan, 412-692-5502 or 412-692-5016, Melanie.Finnigan@chp.edu

Last Update
July 17, 2008

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