![]() ![]() These potential discoveries will allow deCODE and Amgen to develop new medications that reach the right disease targets.” “Our partnership with Intermountain Healthcare is important as we continue to identify and validate human disease targets. “This unique collaboration is expected to uncover new insights into some of society’s most debilitating diseases,” says Kari Stefansson, MD, DrMed, founder, and chief executive officer of deCODE genetics. While study designers created safeguards to protect the anonymity of all study participants, its overall goals, officials say, are to understand the human genome better and enhance healthcare professionals’ abilities to “predict and prevent diseases such as breast cancer, colon cancer, and heart disease.” Volunteer study participants can receive a genetic profiling report following the identification of a clinically significant gene mutation. “The collaboration is noteworthy and unique in its size, scope, and immediate application to patient care.” Lincoln Nadauld, MD, PhD, chief of precision health for Intermountain Healthcare, explains that the research findings are expected to have a global impact relating to the understanding of medications and treatments. The study is said to leverage Intermountain’s competencies with precision medicine and clinical care with the Iceland-based deCODE genetics, a subsidiary of Amgen. The study will examine volunteer participants from Intermountain’s patient population, who are mostly from Utah and Idaho. The HerediGene: Population Study is considered the largest and most comprehensive DNA mapping project to date in the United States, according to Utah-based Intermountain Healthcare. T2T researchers got around this by using a cell line from one “complete hydatidiform mole,” an abnormal fertilized egg containing no fetal tissue that has two copies of the father’s DNA and none of the mother’s.A genetics study from Intermountain Healthcare and deCODE genetics is expected to collect and analyze more than 500,000 DNA samples to explore possible links between genetics and disease. Researchers also had to overcome another challenge: Most cells contain genomes from both mother and father, confusing attempts to assemble the pieces correctly. That allows scientists to see genes with repeated areas as longer strings instead of snippets that they had to later piece together. Scientists said some areas were illegible before improvements in gene sequencing machines that now allow them to, for example, accurately read a million letters of DNA at a time. That’s especially tough in areas where letters repeat. Sequencing machines read the letters in each piece and scientists try to put the pieces in the right order. Reading genes requires cutting the strands of DNA into pieces hundreds to thousands of letters long. To find such genes, scientists needed new ways to read life’s cryptic genetic language. Turns out that gold includes many important genes, he said, such as ones integral to making a person’s brain bigger than a chimp’s, with more neurons and connections. Eichler is paid by the Howard Hughes Medical Institute, which also supports The Associated Press’s health and science department. “Some of us always believed there was gold in those hills,” he said. ![]() ![]() ![]() Louis, who was not involved in the research.Įichler said some scientists used to think unknown areas contained “junk.” Not him. “This is a major improvement, I would say, of the Human Genome Project,” doubling its impact, said geneticist Ting Wang of the Washington University School of Medicine in St. A version of the research was published last year before being reviewed by scientific peers. Their work adds new genetic information to the human genome, corrects previous errors and reveals long stretches of DNA known to play important roles in both evolution and disease. The group, named after the sections at the very ends of chromosomes, called telomeres, is known as the Telomere-to-Telomere, or T2T, consortium. Miga, a genomics researcher at the University of California-Santa Cruz, worked with Adam Phillippy of the National Human Genome Research Institute to organize the team of scientists to start from scratch with a new genome with the aim of sequencing all of it, including previously missing pieces. Before now, there were “large and persistent gaps that have been in our map, and these gaps fall in pretty important regions,” Miga said. ![]()
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