Clinical OMICS

MAR-APR 2017

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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36 Clinical OMICs March/April 2017 In the Lab Researchers have pinpointed the gene responsible for a mysterious disease—a new form of muscular dystrophy characterized by muscle weakness, short stature, intellectual disability, and cataracts . The disease remained an enigma due to both the variability and the variety of symptoms, which over- lap with dystroglycanopa- thies and Marinesco-Sjögren syndrome . Funded by the March of Dimes and the Muscu- lar Dystrophy Association, the study, which identified mutations in INPP5K as the genetic underpinning of the disease by performing whole-exome sequencing on affected patients and their families, will appear in the American Journal of Human Genetics . The emergence of next-generation sequencing has accelerated the iden- tification and description of rare, unidentified diseases according to the study's lead author M . Chiara Man- zini, Ph . D . , an assistant professor at the George Washington University . "With next-generation sequencing, things are moving a lot faster, because you can sequence the child and the family to identify a genetic mutation . In the past, there was not much you could do on families with only one affected child apart from describe the clinical presentation," Dr. Manzini said. Perhaps as integral to the study as next-generation sequencing, was a web-based tool called GeneMatcher, which allowed Dr . Manzini's research team to connect with other scientists studying INPP5K . "I like to call it for scientists," Manzini laughed . Three years after their initial hypothesis, Manzini finally connected with far-flung collaborators, like co-author Yalta Jamshidi, Ph . D . , of St . George's University of London, and identified enough families affected by this rare disorder to make the study feasible . "So now we've found more families," noted Dr . Manzini with excitement, "and what's interesting about INPP5K is that it's different from other muscular dys- trophy genes." In contrast to other mus- cular dystrophy genes, which maintain the structural integrity of muscle fibers, INPP5K regulates intracellular signal- ing and protein trafficking—an entirely new mechanism that pharmaceutical companies could target to develop therapies . For the more immediate future, fam- ilies affected by the formerly mysteri- ous disease can finally have a diagnosis with a name, a roadmap for disease progression, and hope for a cure . —Meghaan Ferreira Gene Discovered for New Form of Muscular Dystrophy Rare Childhood Disorder Mutation Identified by TGEN Scientists An analysis of the genome of a six-year- old boy by researchers at the Trans- lational Genomics Research Institute ( TGen) has identified a novel mutation that affects a protein known as CASK that causes physical abnormalities and devel- opmental delays in children. The findings were published in the American Journal of Medical Genetics. The young patient in the study exhib- ited a "constellation of symptoms"— developmental delay, feeding disorders, and involuntary eye movement (nys- tagmus). Although the child's IQ and language skills were normal, he had impaired motor development, behavior, and memory. These clinical features are markers of a rare developmental syn- drome known as FG syndrome-4 (FGS4). Additionally, the patient was sensitive to loud noises, has a need to touch and examine objects intensely, exhibits impaired visual and motion abilities, and impaired memory. "Children such as this young boy so desperately need answers, and by track- ing down the genetic and genomic causes of these mutations, we hope to continue building a body of knowledge that will lead to improvements, for this patient and many others with rare med- ical disorders," noted co-author on the study Vinodh Narayanan, M.D., medical director of TGen's Center for Rare Child- hood Disorders. Syldavia / Getty Images M. Chiara Manzini, Ph.D., George Washington University

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