DNA database aims to help identify rare, mysterious genetic disorders
Published Friday, February 28, 2014 9:56PM EST
Last Updated Saturday, March 1, 2014 12:20PM EST
A new website spearheaded by Canadian researchers is being launched worldwide in an effort to speed the discovery of genes responsible for rare disorders.
Approximately 350 million people suffer from more than 7,000 rare diseases around the globe, but the genetic cause for at least half of them is still unknown.
With so few others affected, physicians don’t know how to diagnose or treat them. But the makers of PhenomeCentral are hoping to connect the dots via the new web portal.
Barb Williams is hoping it will help find a diagnosis for her son, Noah. The five-year-old has been a medical mystery since infancy, when his parents noticed that he wasn’t learning to talk or walk.
“I think at first, it was very difficult because we were told a few times that it might be this, or it might be that,” Williams told CTV News.
Now, in an effort to find answers and give Noah’s disorder a name, scientists are posting his DNA on PhenomeCentral.
Dr. Kym Boycott, a geneticist at the Children’s Hospital of Eastern Ontario and co-lead on the project, says the database is designed in a way that “we’ll be able to share patient data in a private manner but still enable collaboration.”
Boycott compares such investigative medical work to finding a needle in a “worldwide haystack.”
PhenomeCentral links scientists and clinical geneticists in the U.S., Australia and Europe. The doctors input a patient’s DNA, and the database then matches them with other mysterious cases from around the world.
“Many of them affect children at an early age, and many of them are in fact restricting life expectancy,” said Dr. Hanns Lochmuller, a neurologist at Newcastle University’s Institute of Genetic Medicine.
PhenomeCentral is already showing signs of success. Doctors were at a loss when it came to three-year-old Quinlan, who was born with a rare and complex disorder that affects his eyes, ears and some of his internal organs. But once Quinlan’s DNA was posted on an early version of the website, physicians were able to unlock the mystery. Quinlan was found to be suffering from MFDN, a syndrome that affects craniofacial formation and developmental delay.
Dad Andy Statia said he is all for documenting Quinlan’s disorder on the website.
“I would definitely like my baby’s progress in his life to be a record for everyone that comes after him,” Statia said.
The goal, Boycott said, isn’t just to identify new rare diseases, but also find ways to treat them -- in some cases, using relatively simple measures.
“These are things that are usually metabolic,” Boycott said. “Where a vitamin supplement, or something like that, could make a big difference.”
With a report by CTV News’ Medical Specialist Avis Favaro and producer Elizabeth St. Philip