Merck Fund awards $1 million for research into Down syndrome

Grant will support Jeanne Lawrence’s translational research into trisomy 21

By Mark Shelton

UMass Medical School Communications

February 13, 2013
Jeanne Lawrence, PhD

Jeanne Lawrence, PhD, professor and interim chair of cell & developmental biology, is one of the inaugural recipients of grants in a new program supporting translational research into developmental disabilities. The John Merck Fund announced today three grants of $1 million each in a new multi-year research program to support translational research into developmental disabilities. The  Translational Research Program supports scientists in developing treatments and improving outcomes for individuals with developmental disabilities, particularly Down syndrome and Fragile X syndrome (and FX-associated disorders).

“Through this program, the fund is expanding its longstanding commitment to improving the lives of people with developmental disabilities and their families,” said Olivia Farr, chair of The John Merck Fund. “The program will make approximately 10 grant awards of $1 million each.”

“What’s especially exciting about this program,” said Marsha Mailick, PhD, chair of the fund’s scientific advisory board, “is that it supports research with potential game-changing impact that is within the realm of probability—not just possibility—and could be achieved within 10 years.”

Dr. Lawrence’s research project, “Accelerating Down Syndrome Progress by Translating Dosage Compensation to Trisomy,” will pursue a unique approach to Down syndrome translational research based on the concept of functionally correcting the over-representation of Chromosome 21 genes, by de-activating one of the three copies of Chromosome 21. “Where most people have two copies of Chromosome 21, those with Down syndrome (also known as trisomy 21) have all or part of a third copy of this chromosome,” explained Lawrence.” Our lab has long worked on uncovering basic mechanisms whereby the expression of normal genes is controlled during development—the process known as epigenetics. The overall goal in this project is to translate recent developments in understanding these basic epigenetic mechanisms to a new research frontier in chromosome pathology that accelerates clinical translational progress in Down syndrome.”

Other projects funded by the Merck Fund in this initial program include research by two investigators studying Fragile X syndrome. The awards were made through a competitive review process that began with 100 preliminary proposals and was narrowed down to 17 full proposals.

According to the announcement, The John Merck Fund has had a longstanding interest in people with intellectual and developmental disorders since its inception in 1970. In October 2011, the fund announced that it will spend all of its assets over the next 10 years to spur progress in four topic areas: treatment of developmental disabilities, clean energy, environmental health, and development of a New England regional food system. The Translational Research Program is part of that ongoing commitment.

The Boston-based foundation, established in 1970 by the late Serena Merck and now in its third generation of family leadership, currently holds $75 million in assets.

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