Jackson Lab gets $1.5M to research rare disorder
The Jackson Laboratory in Bar Harbor has received a $1.5 million gift from a Houston couple to research a rare disorder that can be life-threatening for infants.
The biomedical research institution said the gift from Grant and Patricia Sims will fund research for the disorder, spinal muscular atrophy with respiratory distress, also known as SMARD. The Sims donation is being used to establish the Sims Family Fund for SMARD Research.
“The Sims Family Fund for SMARD Research at [Jackson Lab] will enable us to jump-start our research," Jackson Lab Associate Professor Greg Cox, who is one of the few SMARD researchers in the world, said in a statement. "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."
SMARD is considered an “orphan disease” because there are fewer than 70 reported cases, according to Jackson Lab. Its symptoms appear in the first six months of infants who inherit a defective gene from both parents. Only a few infants with SMARD live past their first birthdays.
The Sims donated the gift after learning about Jackson Lab’s work with SMARD and other rare diseases through a student at the University of Notre Dame, where their son, Eric, is an associate professor. Eric Sims and his wife have two children born with SMARD.
"Their profound generosity and deeply personal connection to this area of research is inspiring to us all and will transform our research efforts and ability to develop effective treatments and therapies for children impacted by this devastating disease,” Jackson Lab Vice President for Advancement and Communications Kristen Rozansky said in a statement.
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