HUNTSVILLE, Ala. – A recent finding at HudsonAlpha is breaking new ground with a rare, genetic disorder that causes intellectual and developmental delays in children.
In collaboration with labs from all over the world, HudsonAlpha researchers have made advances in a disability many families and doctors can’t explain.
“The project itself took several years, in fact, so we initially identified one patient in Huntsville that had a change in this particular gene called, EBF3 and we though it was suspicious, but didn’t know much about it,” said faculty investigator, Greg Cooper.
That’s when a website called GeneMatcher linked the HudsonAlpha team with other researchers around the world.
“It was probably two to three years from start to finish from when we first had the initial observation to the time when we felt comfortable saying we have something definitive and we’re ready to publish it and essentially define this new genetic disorder,” said Cooper.
Cooper says collaboration is key when dealing with research of this scope. Now, he hopes this research will bring answers to affected families.
“When you multiple all the kids in the world, it’s in fact many, many families that can now be diagnosed if they can get this genetic testing done,” said Cooper. “If a physician, or researcher, or clinician sees this that they can see our paper and say ‘Oh yes, I can now diagnosis this child.'”
While Cooper says a diagnosis is by no means a cure-his team hopes it’s a better beginning for families impacted by the rare disability.