BAR HARBOR, Maine, Aug. 5, 2015 (GLOBE NEWSWIRE) -- A $1.5 million gift to The Jackson Laboratory (JAX) from Mr. Grant Sims and Ms. Patricia (Patty) Sims of Houston, Texas, will fund research in a rare, life-threatening motor disorder: spinal muscular atrophy with respiratory distress, or SMARD.
SMARD is an exceptionally rare condition, with fewer than 70 reported cases. Symptoms of SMARD appear within the first six months of life, in infants who inherited a defective gene from both parents. SMARD undermines muscle function, compromising mobility and breathing. Few SMARD babies live past their first birthdays.
As rare as SMARD is, research in the disorder is even rarer. Jackson Laboratory Associate Professor Greg Cox, Ph.D., is among a handful of scientists worldwide that study SMARD. "The Sims Family Fund for SMARD Research at JAX will enable us to jump-start our research," says Cox. "We are hopeful that what we learn in our mouse models can be directly applied to the patients so that we can move the research directly to therapy development as quickly as possible."
Jackson Laboratory Vice President for Advancement and Communications Kristen Rozansky hails the Sims' philanthropic leadership and vision in funding SMARD research. "Their profound generosity and deeply personal connection to this area of research is inspiring to us all," she says, "and will transform our research efforts and ability to develop effective treatments and therapies for children impacted by this devastating disease."
Grant and Patty first learned about The Jackson Laboratory through the fundraising efforts of a student at the University of Notre Dame, where the Sims' son, Eric, is an associate professor. Eric and his wife Jill are the parents of two children born with SMARD. After donating to the fundraiser, the Sims connected with Cox to learn more about the SMARD research program, and subsequently established the Sims Family Fund for SMARD Research.
SMARD is an "orphan disease," a term commonly applied to any debilitating medical condition that affects fewer than 200,000 Americans, young or old. These are rare diseases, but collectively number about 6,800 and affect an estimated 350 million people worldwide. The Jackson Laboratory is an international resource for research in SMARD and other rare diseases, developing and providing mouse models, data and drug-development services through its Rare and Orphan Disease Center.
The Jackson Laboratory is an independent, nonprofit biomedical research institution and National Cancer Institute-designated Cancer Center. It employs 1,700 staff, and its mission is to discover precise genomic solutions for disease and empower the global biomedical community in the shared quest to improve human health.
CONTACT: Joyce Peterson, The Jackson Laboratory, firstname.lastname@example.org, 207-288-6058Source:The Jackson Laboratory