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we are dedicated to children with 11 chromosome abnormalities
11q RESEARCH AND RESOURCE GROUP
The 11q Research and Resource Group is a non-profit organization dedicated to providing information, assistance, and support to parents, other family members, and healthcare professionals caring for children with structural abnormalities of chromosome 11, particularly abnormalities of 11q (the "long arm" of chromosome 11). The group primarily provides information and support concerning Jacobsen syndrome, a rare chromosomal disorder also known as "partial deletion" or "partial monosomy" of chromosome 11q. This rare chromosomal disorder may be characterized by a variety of symptoms and physical features including abnormally slow growth before and after birth, delayed psychomotor development, mental retardation, distinctive malformations of the head and facial area, abnormalities of the eyes, malformations of the hands and/or feet, defects of the heart, and/or other physical abnormalities. Established in 1996 and consisting of about 150 members, the 11q Research and Resource Group engages in patient advocacy, promotes research, and offers a variety of services including networking opportunities.
LITTLE HEARTS BIG HOPES
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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