http://medicalxpress.com/ en-us Medical Xpress provides the latest news from Broad Institute of MIT and Harvard New work from the Broad Institute's Klarman Cell Observatory, Brigham and Women's Hospital, Harvard University, MIT, and Yale University expands the understanding of how one type of immune cell – known as a T helper 17 or Th17 cell – develops, and how its growth influences the development of immune responses. By figuring out how these cells are "wired," the researchers make a surprising connection between autoimmunity and salt consumption, highlighting the interplay of genetics and environmental factors in disease susceptibility. The results of their work appear in three companion papers in Nature this week. http://medicalxpress.com/news/2013-03-circuitry-cells-involved-immunity-autoimmune.html Medical research Wed, 06 Mar 2013 13:00:05 EST news281796782 For decades, the human genome could only tell us what we already suspected about the evolution of certain traits. Researchers were able to trace the genetic origin stories of lactose tolerance (as opposed to lactose intolerance), malaria resistance, and more only after observing these successful traits in specific populations. Now, the study of positive selection – the ability to determine which genetic changes have conferred an evolutionary advantage – has reached a turning point: the genome itself can be used as a starting point to guide scientists to important genetic locations, leading to hypotheses about human health and disease. http://medicalxpress.com/news/2013-02-footprints-positive.html Genetics Fri, 15 Feb 2013 10:50:01 EST news280145094 (Medical Xpress)—Advances in DNA sequencing technology during the past decade have given scientists powerful tools to peer into the genomes of humans and other species. Despite the efficiency and sophistication of these technologies – known as massively parallel, or next-generation, sequencers – some of the genome's secrets still remain hidden. http://medicalxpress.com/news/2013-02-kidney-disease-mutations-genomic.html Genetics Mon, 11 Feb 2013 08:10:08 EST news279792597 Autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric conditions. Yet, most genetic links to ASD found in recent years have involved de novo mutations, which are not passed from parent to child, but instead arise spontaneously. While these mutations help explain how ASD develops in a fraction of cases, they don't help us understand why autism so often runs in families. http://medicalxpress.com/news/2013-02-scientists-inherited-autism.html Genetics Mon, 04 Feb 2013 07:31:53 EST news279185482 In September 2012, the Encyclopedia of DNA Elements (ENCODE) Project Consortium, a multi-institution collaboration that included the Broad Institute, capped off nine years of research with a flurry of papers that characterized proteins, enzymes, and other functional elements of the human genome. These elements, which were once dismissed as "junk DNA" because they were not among the protein-coding genes, are now thought to fulfill key functions, often regulating how and when genes are activated. http://medicalxpress.com/news/2013-01-chromatin-disease-pathways.html Genetics Mon, 07 Jan 2013 06:36:57 EST news276763005 Colon cancer is one of the leading causes of cancer-related death in the United States. Risk factors for the disease are varied and include factors such as advanced age and diet, but most cases share something crucial that scientists hope can usher in new treatments. In nearly all cases, the DNA in colon tumors harbors mutations in a key intracellular process or "pathway," leading to the buildup of proteins that drive uncontrolled growth of cells. http://medicalxpress.com/news/2012-12-reveals-alternative-pathway-beta-catenin-colon.html Cancer Fri, 14 Dec 2012 07:06:17 EST news274691169 Focusing on fine features in order to see "the big picture" seems almost counterintuitive, but that is exactly what is happening in the field of genomics. Researchers are sequencing human genomes, cataloging the variation in people's genetic code – the As, Ts, Gs, and Cs of human DNA that serve as each individual's biological blueprint – to get a broader view of human health, a deeper knowledge of human genetic history, and a clearer understanding of why some people develop certain diseases while others do not. http://medicalxpress.com/news/2012-11-genomes.html Genetics Fri, 16 Nov 2012 06:48:59 EST news272270922 Crohn's disease (CD) and ulcerative colitis (UC) – inflammatory diseases of the gastrointestinal tract – have puzzled the scientific community for decades. Ten years ago, researchers recognized that both genes and the environment contributed to these diseases but knew little about precisely how and why illness occurred. To begin to narrow in on the key pathways involved, they would need thousands of patients' samples, millions of data points, and the commitment of physicians and scientists at dozens of institutions. http://medicalxpress.com/news/2012-10-genetic-links-inflammatory-bowel-disease.html Genetics Wed, 31 Oct 2012 15:11:57 EST news270914505 Most of the DNA alterations that are tied to disease do not alter protein-coding genes, but rather the "switches" that control them. Characterizing these switches is one of many goals of the ENCODE project – a sweeping, international effort to create a compendium of all of the working parts of the human genome that have not been well studied or well understood. http://medicalxpress.com/news/2012-09-encode-catalogue-functional-elements-genome.html Genetics Wed, 05 Sep 2012 13:00:21 EST news266058439 For most cells, more than two copies of the entire genome can be a telltale sign of cancer. But for megakaryocytes – bone marrow cells that can give rise to thousands of platelets – having several genomic copies is normal. In their healthy state, these cells can harbor as many as 64 copies of the full complement of human DNA, a state known as polyploidy. When the normal development of megakaryocytes goes awry, they can lose this unique feature and start down the path toward a rare form of cancer known as acute megakaryoblastic leukemia (AMKL). Researchers can spot these cellular changes, but the underlying causes – and how to reverse the course of disease – have been difficult to pinpoint. http://medicalxpress.com/news/2012-08-strategies-converge-acute-megakaryoblastic-leukemia.html Cancer Tue, 07 Aug 2012 04:44:03 EST news263533425 One of cancer's most frightening characteristics is its ability to return after treatment. In the case of many forms of cancer, including the skin cancer known as melanoma, tailored drugs can eradicate cancer cells in the lab, but often produce only partial, temporary responses in patients. One of the burning questions in the field of cancer research has been and remains: how does cancer evade drug treatment? http://medicalxpress.com/news/2012-07-tumor-microenvironment-skin-cancer-cells.html Cancer Wed, 04 Jul 2012 13:08:35 EST news260626109 Breast cancer is not a single disease, but a collection of diseases with dozens of different mutations that crop up with varying frequency across different breast cancer subtypes. Deeper exploration of the genetic changes that drive breast cancer is revealing new complexity in the leading cause of cancer death in women worldwide. http://medicalxpress.com/news/2012-06-breast-cancer-genetic.html Cancer Wed, 20 Jun 2012 13:00:06 EST news259415336 For almost a century, researchers have known that cancer cells have peculiar appetites, devouring glucose in ways that normal cells do not. But glucose uptake may tell only part of cancer's metabolic story. Researchers from the Broad Institute and Massachusetts General Hospital looked across 60 well-studied cancer cell lines, analyzing which of more than 200 metabolites were consumed or released by the fastest dividing cells. Their research yields the first large-scale atlas of cancer metabolism and points to a key role for the smallest amino acid, glycine, in cancer cell proliferation. Their results appear in the May 25 issue of the journal Science. http://medicalxpress.com/news/2012-05-amino-acid-consumption-fast-cancer.html Cancer Thu, 24 May 2012 15:26:18 EST news257091961 A new paper published online in The Lancet challenges the assumption that raising a person's HDL — the so-called "good cholesterol" — will necessarily lower the risk of a heart attack. The new research underscores the value of using genetic approaches to test biological hypotheses about human disease prior to developing specific drugs. A team led by researchers from the Broad Institute and Massachusetts General Hospital (MGH) explored naturally occurring genetic variations in humans to test the connection between HDL levels and heart attack. By studying the genes of roughly 170,000 individuals, the team discovered that, when examined together, the 15 HDL-raising variants they tested do not reduce the risk of heart attack. http://medicalxpress.com/news/2012-05-hdl-route-countering-heart-disease.html Cardiology Wed, 16 May 2012 18:30:01 EST news256406298 (Medical Xpress) -- Scientists hoping to unlock cancer’s secrets face a formidable challenge. Sophisticated research tools have allowed them to peer into the genomes of cancer cells and identify many DNA alterations that may underlie malignancy, yet quantifying those changes is no simple task. http://medicalxpress.com/news/2012-05-absolutely-view-cancer-genome.html Cancer Fri, 04 May 2012 03:24:14 EST news255320644