Clinical OMICS

JAN-FEB 2019

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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28 Clinical OMICs January/February 2019 www.clinicalomics.com ditions. We could see there would be benefit for our son— and potentially for us—so we signed up quite happily." Late summer 2015 turned to 2016 and then 2017, and a diagnosis for Sam remained elusive. Over the ensuing months after having his genome sequenced, Sam was also experiencing mild seizures, which doctors had told Hast- ings Ward not to worry about. That was until just before his second birthday when Sam had a massive seizure that landed him in the intensive care ward for 48 hours, and came with a new diagnosis: epilepsy. This was the final clue needed. As a participant in the 100,000 Genomes Project, Sam's medical symptoms were regularly updated. A geneticist with the NHS noticed Sam's epilepsy and found published reports listing it as one of the main indicators of a rare disease associated with a mutation in the GRIN1 gene. Other symptoms include visual impair- ment. A Sanger sequence of Sam's genome confirmed the diagnosis. Further, it was a de novo mutation, meaning it had not been inherited from either Sam's mother or father. "It being a de novo mutation was a fantastic relief to the rest of us as there was no chance (Sam's sister) Kirsty would have the problem—or anyone else in the family," noted Hastings Ward. Finally, armed with a concrete diagnosis, family and friends began to research GRIN1 mutations. A friend dis- covered a Facebook group called "Giggling GRIN1s," for families and caregivers for those with a GRIN1 mutation. This growing community of families has provided reas- surance in the challenges of caring for a severely disabled child, as well as tips on activities and equipment useful for their care. Hastings Ward's online research also uncovered work being done in the lab of Stephen Traynelis, Ph.D., at Emory University that allowed the family to further classify Sam's GRIN1 as a gain of function mutation—information that has helped ensure Sam is receiving medications that address this. Sam will be five years old this spring, and the family remains optimistic. "We are seeing small improvements," Hasting Ward noted. "Developmentally he is still around the six-month mark, but there are glimmers of hope and he gets intensive therapy at the special education school he started in the autumn. They are doing wonders with him, it is fantastic." —Chris Anderson. n 11000101010100010101000101001000010101101 10111010101010000101111011101001101011101 11000101010100010101000101001000010111011 0111010101010000101110101010100001011101 The 100,000 Genomes Project in Numbers 100,000 genomes 13 Genomic Medicine Centers, and 85 NHS Trusts within them are involved in recruiting participants 70,000 patients and family members 1,500 NHS staff (doctors, nurses, patholo- gists, laboratory staff, genetic counselors) 21 petabytes of data. 1 petabyte of music would take 2,000 years to play on an MP3 player 2,500 researchers and trainees from around the world (continued from previous page)

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