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Lawrence’s Down syndrome research gets boost from Hood Foundation

By James Fessenden

UMass Medical School Communications

diciembre 18, 2013
   Jeanne Lawrence
   Jeanne B. Lawrence, PhD

Jeanne B. Lawrence, PhD, professor and interim chair of cell and developmental biology, has been awarded a $500,000 grant from the Charles H. Hood Foundation to investigate the use of chromosomal therapy as a means of inactivating the extra copy of chromosome 21 responsible for disease pathologies in mouse models of Down syndrome, also known as trisomy 21. Dr. Lawrence was one of two scientists chosen to receive the foundation’s first Major Grant Initiative to Advance Child Health.


In addition to a cognitive disability and early onset Alzheimer’s disease, people with trisomy 21 have a greater risk of childhood leukemia, heart defects and immune and endocrine system dysfunction. In July, Lawrence published the first evidence that the XIST RNA, a naturally occurring X chromosome “off switch,” can be rerouted to neutralize the extra chromosome responsible for Down syndrome. Lawrence’s initial studies were performed in induced pluripotent stem cell cultures; the next step in translating the breakthrough discovery to clinical applications is testing the expectation that the XIST RNA can be employed to reverse certain disease pathologies in mouse models of Down syndrome.

Additionally, Lawrence will use induced pluripotent stem cells derived from fibroblast cells donated by a Down syndrome patient to identify and isolate key genetic pathways linked to Down syndrome pathologies. Establishment of these connections is the first step in designing pharmacological therapeutics for Down syndrome.

“Our lab is poised to push forward a highly innovative strategy to translate the basic mechanism of X chromosome inactivation to compensate for trisomy 21,” said Lawrence. “The Hood Foundation grant will allow us to accelerate this translational research for chromosomal disorders, thereby enhancing our understanding of human Down syndrome pathologies and fostering new drug development.”

The Hood Foundation’s Major Grant Initiative to Advance Child Health was established to support outstanding investigators conducting high‐reward, innovative translational and clinical research whose discoveries will likely have a major health impact. Seven institutions from New England, including UMMS, were invited to submit proposals for funding.

“This is a highly innovative scientific project to counteract the deleterious effects of trisomy 21 that causes Down syndrome,” according to a statement by the Charles H. Hood Foundation. “Dr. Lawrence is an outstanding geneticist with a highly distinguished track record in research on the causes of Down syndrome and other chromosome abnormalities where children rarely survive past the first two years of age. The project is high risk, high reward led by investigators who can make it work—on a disease of high impact in children.”

Since 1942, the Charles H. Hood Foundation has supported investigators at New England research institutions to improve the health and quality of life for children. The Hood Foundation Child Health Research Awards Program has launched the careers of 609 junior faculty whose discoveries have contributed to significant improvements in child health. The foundation also supports postdoctoral fellows conducting projects spanning the continuum from basic laboratory research to clinical and health services research. The Major Grant Initiative is a component of the Hood Foundation’s research funding portfolio. Lawrence and Clifford Woolf, MD, PhD, director of the F.M. Kirby Neurobiology Center at Boston Children’s Hospital, received these major grants.