Researchers studying rare genetic disorder

FARMINGTON, Conn. (WTNH) — A rare genetic disorder at birth is the focus of an ongoing study at the stem cell institute at the UConn Health Center.

Dr. Marc Lalande is leading a team of researchers trying to unlock the key to improve the quality of life for children born with Prader-Willi Syndrome.

Lalande and others are growing stem cells from blood and skin samples in an effort to come up with breakthrough therapy. And so far, the results appear promising.

“In most cases, the individuals are missing a little part of chromosome 15,” Lalande says.

That genetic brain defect leads to a number of health issues for children like Mackenzie Geraci, who was born early at 32 weeks. Most notably is constant eating due to the inability to satisfy an appetite.

“There’s no doubt that we know one day she is going to wake up and never feel full,” said Mackenzie’s mother Christine. “We know that day will come in the short-term future.”

Mackenzie was diagnosed with Prader-Willi four weeks after she was born. She struggles with low muscle tone, says her mother.

“We have started growth hormone treatments to increase her muscle tone,” Christine said. “There are studies that it helps improve her cognitive delays and developmental delays.”

Parents like Christine Geraci are finding comfort in the ongoing research by Dr. Lalande and his team.

“We could potentially turn the genes that are not on in Prader-Willi and turn them back on again,” said Lalande, who along with his peers have discovered a way to interfere with the affected genes by studying brain tissues grown from stem cells.

“We’re getting about 10 to 30 percent of the turn on we needed and we think we can do better than that,” said Lalande, who is optimistic that the promising results will lead to much needed therapy. ”If we could improve the symptoms, if we can control some of these behavioral problems because we have a therapeutic approach, I think that would be a huge advance.”

Lalande is looking for additional samples from Prader-Willi patients. For more information, call 860-679-8349.

The annual Walk and Roll for PWS is this Saturday at Middletown High School. Registration is at 9 a.m. All the money raised goes to research. Click here for more information.

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