PHILADELPHIA, Oct. 14 /PRNewswire-USNewswire/ -- Genetics researchers
have identified two novel gene locations that raise the risk of type 1
diabetes. As they continue to reveal pieces of the complicated genetic
puzzle for this disease, the researchers expect to improve predictive tests
and devise preventive strategies.

    "As we add to our knowledge of the biology of type 1 diabetes and
better understand details of the disease's genetic risk, we will be able to
develop better diagnostic tests that meaningfully predict who will develop
diabetes," said study leader Hakon Hakonarson, M.D., Ph.D., director of the
Center for Applied Genomics at The Children's Hospital of Philadelphia.

    The study appeared online Oct. 7 in Diabetes, the journal of the
American Diabetes Association. Hakonarson's co-leader in the study was
Constantin Polychronakos, M.D., director of Pediatric Endocrinology at
McGill University in Montreal.

    Type 1 diabetes, formerly called juvenile diabetes, usually begins in
childhood, when the body's immune system malfunctions and destroys
insulin-producing beta cells in the pancreas. Without insulin, blood sugar
levels run out of control and can impair blood flow and damage the eyes,
nerves and kidneys. It is second only to asthma as the most common chronic
disease in American children. Patients are dependent for life on insulin
injections or insulin medications.

    Type 1 diabetes is a complex disease, in which a variety of genes
interact with each other to cause the biological events in the immune
system that remove the body's control of blood sugar levels. Over the past
two years, large research collaborations, including groups led by
Hakonarson and Polychronakos, have used highly automated, sophisticated
gene-scanning tools to pinpoint genes implicated in the disease.

    Based on initial data from previous researchers, scientists in the
current study refined their search in DNA samples of thousands of patients,
family members and control subjects from Philadelphia, other parts of North
America, Canada, Europe and Australia. The genotyping work identified two
new gene locations associated with type 1 diabetes.

    The genes at those locations, UBASH2A, on chromosome 21, and BACH2, on
chromosome 6, are active in immune cells that play key roles in autoimmune
disorders such as type 1 diabetes. "Much work remains to be done to
discover exactly how these genes may function in molecular pathways
involved in diabetes, but the genes are apparently biologically relevant to
the disease," said Hakonarson.

    Hakonarson expects that increasingly advanced genotyping technology
will reveal the remaining undiscovered genes that contribute to type 1
diabetes. "We believe we have captured the vast majority of common gene
variants in the disease," he added. "We are now focusing on rare gene
variants. As we increase the number of known genes, we will be able to
develop better diagnostic tests. Furthermore, as we better understand the
gene pathways that give rise to type 1 diabetes, this knowledge may suggest
ways to intervene early in life with therapies that target those pathways
and prevent the disease from developing."

    Funding support for the project came from The Children's Hospital of
Philadelphia, the Juvenile Diabetes Research Foundation International,
Genome Canada (through the Ontario Genomics Institute), the National
Institutes of Health and the Cotswold Foundation. In addition to his
position at Children's Hospital, Hakonarson also is on the faculty of the
University of Pennsylvania School of Medicine, as are many of his
co-authors. Other co-authors collaborated from several Canadian hospitals
and research institutions.

    About The Children's Hospital of Philadelphia: The Children's Hospital
of Philadelphia was founded in 1855 as the nation's first pediatric
hospital. Through its long-standing commitment to providing exceptional
patient care, training new generations of pediatric healthcare
professionals and pioneering major research initiatives, Children's
Hospital has fostered many discoveries that have benefited children
worldwide. Its pediatric research program is among the largest in the
country, ranking third in National Institutes of Health funding. In
addition, its unique family-centered care and public service programs have
brought the 430-bed hospital recognition as a leading advocate for children
and adolescents. For more information, visit http://www.chop.edu.

    CONTACT: John Ascenzi of The Children's Hospital of Philadelphia,
+1-267-426-6055, Ascenzi@email.chop.edu


SOURCE The Children's Hospital of Philadelphia