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Support Jacobsen Syndrome research by donating to Paul Grossfeld's Research Lab

The focus of Dr. Grossfeld’s Laboratory is on defining the genetic basis of congenital heart defects, the most common human birth defect.  

Dr. Grossfeld’s research has focused on a rare genetic syndrome, Jacobsen syndrome (JS), that is caused by the loss of the end of the long arm of human chromosome 11.  

Remarkably, Dr. Grossfeld has determined that most of the common and severe congenital heart defects that occur in the general population occur in JS.  Dr. Grossfeld’s laboratory has identified the gene in 11q, ETS-1 that causes congenital heart defects in JS.  Using a combination of state-of-the art technologies including genetically engineered animal models and human induced pluripotent stem cells, Dr. Grossfeld’s laboratory is studying the function of the ETS-1 gene in normal heart development, and how loss of function causes congenital defects.  They have identified a specific population of cells that is critical for normal heart development, the cardiac neural crest, whose function is impaired when the ETS-1 gene is deleted.  They have determined that there are additional genetic factors that can prevent the loss of ETS-1 from causing congenital heart defects, which could have important implications for preventing some forms of congenital heart disease in the general population.

In addition to congenital heart defects, most JS patients suffer from cognitive and behavioral problems.  Dr. Grossfeld, working in collaboration with Drs. Natacha Akshoomoff (UCSD) and Sarah Mattson (SDSU) have identified several genes in 11q that cause intellectual disability and one that causes autism.  Future studies are aimed at developing potential gene-specific pharmacologic therapies for these problems.

Lastly, Dr. Grossfeld’s laboratory is identifying new genetic loci that harbor additional disease-causing genes for congenital heart defects, and will utilize similar approaches as for Jacobsen syndrome to define their function in normal heart development and disease.

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