http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. French scientists have discovered that supposedly rare mutations in the mitochondria, the 'power plants' of human cells responsible for creating energy, account for more than 7% of patients with a mitochondrial disease manifesting itself as a respiratory deficiency. Their data emphasise the need for comprehensive analysis of all the mitochondrial DNA (mtDNA) in patients suspected as having a mitochondrial disease, and this should include children, a researcher will tell the annual conference of the European Society of Human Genetics today (Sunday). http://medicalxpress.com/news/2013-06-rare-mitochondrial-mutationsmaybe.html Genetics Sat, 08 Jun 2013 18:00:01 EST news289821371 Novel abnormalities in the FGFR gene, called FGFR fusions, were identified in a spectrum of cancers, and preliminary results with cancer cells harboring FGFR fusions suggested that some patients with these cancers may benefit from treatment with FGFR inhibitor drugs, according to data published in Cancer Discovery, a journal of the American Association for Cancer Research. http://medicalxpress.com/news/2013-06-clinical-sequencing-technology-diverse-cancers.html Cancer Fri, 07 Jun 2013 15:28:55 EST news289837728 Movie star Angelina Jolie tested positive for a "faulty gene" at the center of a high-profile legal battle in the United States that challenges whether human genes can belong to a corporation. http://medicalxpress.com/news/2013-05-jolie-mastectomy-spotlights-legal-genes.html Cancer Thu, 16 May 2013 04:20:01 EST news287893831 New results from a retrospective study conducted in Europe suggest that anti-HER2 treatments, like the widely used breast cancer agent trastuzumab (Herceptin), have anti-cancer effects in a small subset of patients with advanced non-small cell lung cancer (NSCLC) harboring specific HER2 protein mutations. Although genetic changes cause tumor cells to make too much of the HER2 protein in up to 20% of lung cancers, mutations in the HER2 gene occur in only 1-2% of lung cancers. Such mutations in the HER2 gene lead to continuous activation of the protein, which keeps tumor cells alive and stimulates their growth. This is the largest study to date to explore the effect of anti-HER2 drugs among patients with these rare mutations who had already completed standard initial chemotherapy. The findings, published April 22 in the in the Journal of Clinical Oncology, suggest that HER2 testing to identify patients who might benefit from such treatments may be worthwhile. http://medicalxpress.com/news/2013-04-patients-lung-cancer-specific-her2.html Cancer Mon, 22 Apr 2013 16:00:07 EST news285849980 (Medical Xpress)—A team of researchers led by the Institute of Cancer Research, London, have found that rare mutations in a gene called PPM1D are linked to an increased risk of breast and ovarian cancer. The mutations are not inherited, and the discovery potentially reveals a new mechanism of cancer development. http://medicalxpress.com/news/2012-12-scientists-gene-linked-breast-ovarian.html Cancer Mon, 17 Dec 2012 08:03:20 EST news274953791 (Medical Xpress)—During an ice climbing trip to the Canadian Rockies last Christmas, two young researchers from the UW,  Michael Schmitt and Jesse Salk,  talked about a simple but powerful idea to get better results when looking at cancer cells. If they could reduce the error rate in DNA sequencing, then researchers could better pinpoint which cells are mutating. This improvement could lead to early diagnosis of cancer and a better treatment plan once researchers knew which cells were resistant to chemotherapy. http://medicalxpress.com/news/2012-10-duplex-sequencing-method-cancer-treatment.html Cancer Mon, 01 Oct 2012 08:57:23 EST news268300631 The genetics of autism is complex and possibly influenced by mutations with very large effects. EU genomics research has found more candidate genes that increase susceptibility to the condition. http://medicalxpress.com/news/2012-09-genetics-autism.html Autism spectrum disorders Fri, 14 Sep 2012 09:28:48 EST news266833722 Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD). http://medicalxpress.com/news/2012-07-mutations-autism-susceptibility-gene-boys.html Autism spectrum disorders Thu, 12 Jul 2012 08:53:29 EST news261302002 These findings are not about the classic story of gift-giving, although the MAGI genes (officially named membrane associated guanylate kinase, WW and PDZ domain containing proteins) do influence brain function in important ways. http://medicalxpress.com/news/2012-05-gifts-magi-schizophrenia-bipolar-disorder.html Psychology & Psychiatry Thu, 10 May 2012 11:11:10 EST news255867058 Scientists led by Washington University School of Medicine in St. Louis have identified the first gene directly linked to the most common form of psoriasis, a chronic skin condition. http://medicalxpress.com/news/2012-04-gene-linked-common-psoriasis.html Genetics Thu, 19 Apr 2012 13:10:04 EST news254058159 Human geneticists have long debated whether the genetic risk of the most common medical conditions derive from many rare mutations, each conferring a high degree of risk in different people, or common differences throughout the genome that modestly influence risk. http://medicalxpress.com/news/2012-03-hidden-architecture-methods-uncover-gene.html Genetics Sun, 25 Mar 2012 13:58:06 EST news251902663 An innovative approach to genome screening has provided clues about rare mutations that may make people susceptible to brain aneurysms, predisposing them to brain bleeds, according to preliminary late-breaking research presented at the American Stroke Association's International Stroke Conference 2012. http://medicalxpress.com/news/2012-02-rare-mutations-aneurysm-high-risk-families.html Genetics Fri, 03 Feb 2012 12:10:01 EST news247492565 A study published in Nature Genetics today has found new evidence for a link between the body clock hormone melatonin and type 2 diabetes. The study found that people who carry rare genetic mutations in the receptor for melatonin have a much higher risk of type 2 diabetes. http://medicalxpress.com/news/2012-01-genetic-links-body-clock-receptor.html Diabetes Sun, 29 Jan 2012 13:00:15 EST news247034442