Carina Storrs at CNN: “Angela’s son Jacob was born with a number of concerning traits. He had an extra finger, and a foot and hip that were abnormally shaped. The doctors called in geneticists to try to diagnose his unusual condition. “That started our long, 12-year journey,” said Angela, who lives in the Baltimore area.
As geneticists do, they studied Jacob’s genes, looking for mutations in specific regions of the genome that could point to a problem. But there were no leads.
In the meantime, Jacob developed just about every kind of health problem there is. He has cognitive delays, digestive problems, muscle weakness, osteoporosis and other ailments.
“It was extremely frustrating, it was like being on a roller coaster. You wait six to eight weeks for the (gene) test and then it comes back as showing nothing,” recalled Angela, who asked that their last name not be used to protect her son’s privacy. “How do we go about treating until we get at what it is?”
Finally a test last year, which was able to take a broad look at all of Jacob’s genes, revealed a possible genetic culprit, but it still did not shed any light on his condition. “Nothing was known about the gene,” said Dr. Antonie Kline, director of pediatric genetics at the Greater Baltimore Medical Center, who had been following Jacob since birth.
Fortunately, Kline knew about an online program called GeneMatcher, which launched in December 2013. It would allow her to enter the new mystery gene into a database and search for other clinicians in the world who work with patients who have mutations in the same gene….
the search for “someone else on the planet” can be hard, Hamosh said. The diseases in GeneMatcher are rare, affecting fewer than 200,000 people in the United States, and it can be difficult for clinicians with similar patients to find each other just through word of mouth and professional connections. Au, the Canadian researcher with a patient similar to Jacob, is actually a friend of Kline’s, but the two had never realized their patients’ similarities.
It was not just Hamosh and her colleagues who were struck by the need for something like GeneMatcher. At the same time they were developing their program, researchers in Canada and the UK were creating PhenomeCentral and Decipher, respectively.
The three are collectively known as matchmaker programs. They connect patients with rare diseases which clinicians may never have seen before. In the case of PhenomeCentral, however, clinicians do not have to have a genetic culprit and can search only for other patients with similar traits or symptoms.
In the summer of 2015, it got much easier for clinicians all over the world to use these programs, when a clearinghouse site called Matchmaker Exchange was launched. They can now enter the patient information one time and search all three databases….(More)
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