The NIH has awarded another multi-million dollar grant towards a rare disease study.
Bernice Morrow, PhD
, director of translational genetic at Albert Einstein College of Medicine and collaborating researchers at the Children’s Hospital of Philadelphia (CHOP) have received $7.5M to study the genetics of congenital heart disease.
Dr. Morrow studies the genetics of a rare syndrome referred to as 22q11.2 deletion syndrome (22q11.2DS deletion) which is also known as DiGeorge syndrome and velo-cardio-facial syndrome. A common feature of patients with 22q11.2DS is congenital heart disease.
In the upcoming study, Dr. Morrow and researchers will compare the genetic findings from patients with 22q11.2DS with those of congenital heart disease patients in the general population, to see if similar genetic risk factors are present in both groups.
Another major goal of the multi-million-dollar study is to potentially discover why some individuals with 22q11.2DS have more of a severe disease while others have mild presentations.
What researchers already know is that the deletion of one particular gene in the 22q11.2 region, TBX1 seem to cause the most of the physical abnormalities in the disorder. Dr. Morrow believes that DNA variations in other genes may influence disease severity. The granted funds will enable her to track down the modifier genes specific for congenital heart disease to see how they interact with each other and with TBX1
About congenital heart disease
Congenital heart disease can describe a number of different problems affecting the heart. It is mostly described as an abnormality in the heart that develops before birth. It causes more deaths in the first year of life than any other birth defects
Symptoms depend on the condition. Although congenital heart disease is present at birth, the symptoms may not appear right away.
22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. 22q11.2 deletion syndrome has many possible signs and symptoms that can affect almost any part of the body. The features of this syndrome vary widely, even among affected members of the same family.
Many children with 22q11.2 deletion syndrome have developmental delays, including delayed growth and speech development, and learning disabilities.