A major breakthrough in Down syndrome research could one day correct the genetic disorder.
Researchers at U-Mass Medical School have discovered an off switch of the extra chromosome that causes Down Syndrome. Experts call it a landmark finding,
Petri dishes holding skin cells derived from a man with Down syndrome could hold the key to the mysteries of the genetic disorder that causes cognitive and intellectual delays, and a host of medical problems.
"It raises a new question. Is there a future in which there might be a therapeutic cure for the very fundamental aspects of Down syndrome?" said Dr. Brain Skotko, director of the Down syndrome program at Mass General Hospital.
Most of us are born with 23 pairs of chromosomes. But people with Down syndrome have three copies of chromosome 21, which triggers the genetic defect. Now, researchers at U-Mass Medical School have found a way to shut off that chromosome.
"We were able to basically silence genes across the chromosome, so a couple of hundred genes are silenced by a single gene," said Dr. Jeanne Lawrence, a scientist and researcher at U-Mass Medical School.
That single gene comes from an X chromosome found in females. The research could lead to drug therapies to treat the many of medical problems among those with Down syndrome, including heart and thyroid disease, early onset Alzheimer's disease, and even improve cognitive skills.
Scientists say one day the disorder could be corrected in utero.
"The question of whether you could silence chromosomes in the body of baby, it's conceivable, but its years and years in the future," said Lawrence.
Skotko, who has dedicated his career to helping Down syndrome families, including his own, said the scientific work is an exciting but challenging breakthrough.
"This exciting research raises the tantalizing question -- Can it and should it be cured? And, while many parents welcome the research, there will be parents thinking about the emotional and ethical issues in the future," said Skotko.
Skotko said he imagines one day being able to discuss options with expectant parents who've received the Down syndrome diagnosis. He said research into this long-dismissed disorder is long overdue.