Clinical OMICS

MAR-APR 2018

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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Page 10 of 51 March/April 2018 Clinical OMICs 9 Stem Cell Study Finds Mutational Load Impacts Muscle Function in Old Age Swedish reasearchers at the Karolinska In- stitutet recently reported that one reason our muscles lose strength and function as we age may be due to the stem cells that build and regenerate muscle tissue accu- mulate huge numbers of gene mutations. The team, led by Maria Eriksson, Ph.D., a professor in the department of bioscienc- es and nutrition, use whole-genome se- quencing to map gene mutations in clones of individual cultured human skeletal mus- cle (SkM) stem cells isolated from biopsies taken from healthy people of different ages. The results showed that the stem cells from older individuals had amassed mutations that would affect the function of resulting muscle. "What is most surprising is the high number of mutations," Eriksson said. "We have seen how a healthy 70-year-old has accumulated more than 1,000 mutations in each stem cell in the muscle, and that these mutations are not random, but there are certain regions that are better protected." The researchers suggest that their findings could feasibly help to iden- tify new approaches to preserving muscle function in older people. These might in- clude drugs that improve the stem cells' capacity to repair their DNA, but poten- tially also exercise programs that might help people retain muscle function and strength as they age. n Informatics services company Pro- metheus Research will create a sleep research registry for the large-scale study Stanford Technology Analytics and Genomics in Sleep (STAGES) to collect clinical data, objective sleep data, and biological sam- ples from 30,000 patients at more than 10 different sleep clinic sites. "The STAGES study is scheduled to begin recruitment in April 2018 and [we] expect data collection will last 3.5 years," said Eileen B. Leary, senior manager of clinical research at Stan- ford. "The project will begin sharing data through the NIMH Data Archive (NDA) and dbGaP (the database of Genotypes and Phenotypes) once we hit the 10,000-subject milestone. Data will be uploaded every six months until the dataset is complete." Data will be collected in part through the Alliance Sleep Questionnaire, an online sleep/medical history ques- tionnaire developed through efforts led by Emmanuel Mignot, M.D., Ph.D., professor of psychiatry and behavioral sciences at Stanford Medicine, who is leading the STAGES study. Other data sources, include in-lab nocturnal polysomnography data from a one-night polysomnogram; University of Pennsylvania's Comput- erized Neurocognitive Battery (CNB); actigraphy to be conducted over two to four weeks; genome-wide associa- tion studies; stored biological samples for future biomarker research, includ- ing DNA, plasma, and serum; and 3D facial images. CNB, designed for large-scale studies, is used for measur- ing accuracy and speed for execu- tive-control func- tions (abstraction, attention, work- ing memory), epi- sodic memory (verbal, facial, spatial), complex cognitive processing (language reasoning, nonverbal reasoning, spa- tial processing), social cognition (emo- tion identification, emotion intensity differentiation, age differentiation), and sensorimotor and motor speed. Prometheus' registry, RexStudy for Research Centers, is a configu- rable, integrated data management platform designed for centralizing research data and research operations across multiple research workflows. It is also designed to integrate with EHRs, and single-study tools such as REDCap, a secure web application for building and managing online sur- veys and databases. "Our research informatics expertise and research data management expe- rience with complex, multi-modal data acquisition make Prometheus a great fit for the Stanford STAGES study," added Leon Rozenblit, Pro- metheus Research founder and CEO. — Alex Philippidis Prometheus, Stanford Partner on 30,000-Patient Sleep Study Yuri_Arcurs / Getty Images L C O S M O / G e t t y I m a g e s

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