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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.
DR PAUL GROSSFELD HEART RESEARCH FUND
Double the impact of your gift! Rady Children's Hospital - San Diego will match all donations made to the Dr. Paul Grossfeld Heart Research Fund.
Under the direction of Rady Children’s cardiologist Paul Grossfeld, MD, groundbreaking research is underway into the genetic causes of Hypoplastic Left Heart Syndrome (HLHS), a congenital heart defect that is uniformly fatal when untreated. HLHS is currently the leading cause of death for babies born with congenital heart disease.
Roughly 1,000-2,000 babies are born with HLHS each year; 1-2 patients with HLHS are seen each month at Rady Children’s. Babies born with HLHS must undergo surgery within the first few days of life; most patients who survive will require heart transplantation later in life. The annual cost of care for HLHS patients in the United States exceeds $1 billion.
There are many causes of HLHS, but no known cure.
Using a combination of human and animal genetic model systems, Dr. Grossfeld’s laboratory focuses on:
• Identifying and understanding underlying mechanisms and disease pathways in HLHS
• Developing improved therapies for current patients; and, ultimately
• Identifying preventive strategies for patients at risk for developing HLHS
Until now, the idea of preventing HLHS was only a dream.
However, Dr. Grossfeld’s team has recently proposed a completely new paradigm regarding the disease progression of HLHS, and has identified one of its underlying causes. The team is also gaining unprecedented insights into related genetic and environmental contributors for HLHS.
Dr. Grossfeld’s team has identified ETS-1, the gene that causes HLHS in patients with Jacobsen Syndrome (JS), which is a rare and often devastating condition caused by deletions of genetic material on parts of the 11th chromosome. Roughly 5 percent of patients with JS also have HLHS; approximately 1-2 percent of patients with HLHS have JS.
Understanding the pathological pathways associated with this particular genetic mutation may provide the key to unlocking the mystery behind HLHS, as findings associated with ETS-1 may be applicable across other causes of HLHS.
Your gift in support of the Dr. Paul Grossfeld Heart Research Fund helps to accelerate his work and gives hope to children and families. Your gift will be matched by Rady Children's Hospital - San Diego. THANK YOU.
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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