http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. Alternating hemiplegia of childhood (AHC) is a very rare disorder that causes paralysis that freezes one side of the body and then the other in devastating bouts that arise at unpredictable intervals. Seizures, learning disabilities and difficulty walking are common among patients with this diagnosis. http://medicalxpress.com/news/2012-07-gene-discovery-mysterious-paralysis-childhood.html Genetics Sun, 29 Jul 2012 13:00:27 EST news262781153 Using data from its unique online research platform, 23andMe, a leading personal genetics company, has identified seven single-nucleotide polymorphisms (SNPs) significantly associated with breast size, including three SNPs also correlated with breast cancer in a genome-wide association study (GWAS) now published online in BMC Medical Genetics. These findings make the first concrete genetic link between breast size and breast cancer risks. http://medicalxpress.com/news/2012-07-23andme-genetic-breast-size-cancer.html Genetics Tue, 03 Jul 2012 13:07:10 EST news260539503 Researchers at Moffitt Cancer Center working with colleagues at three other institutions have validated a link between a rare genetic variant and the risk of glioma, the most common and lethal type of brain tumor. The validation study also uncovered an association between the same rare genetic variant and improved rates of survival for patients with glioma. http://medicalxpress.com/news/2012-07-validates-rare-genetic-variant-glioma.html Genetics Mon, 02 Jul 2012 17:26:18 EST news260468773 An international team led by human genetic researchers at the University of British Columbia and Vancouver Coastal Health has identified the latest gene associated with typical late-onset Lewy body Parkinson's disease (PD), with the help of a Canadian Mennonite family of Dutch-German-Russian ancestry. http://medicalxpress.com/news/2012-06-parkinson-disease-gene-mennonite-family.html Parkinson's & Movement disorders Wed, 27 Jun 2012 02:50:33 EST news259984002 The use of genetic testing to establish racial origins for political purposes is not only scientifically foolish, but also unethical and should be condemned, the European Society of Human Genetics (ESHG) said today (Thursday June 14). The society, which promotes research in basic and applied human and medical genetics and ensures high standards in clinical genetic practice, said that the use by a member of parliament from the Hungarian far-right Jobbik party of a genetic test to attempt to prove his 'ethnic purity' was ethically unacceptable. http://medicalxpress.com/news/2012-06-european-geneticists-condemn-racial-purity.html Genetics Thu, 14 Jun 2012 11:00:13 EST news258890407 Advanced high-speed gene-sequencing has been used in the clinical setting to find diagnoses for seven children out of a dozen who were experiencing developmental delays and congenital abnormalities for mysterious reasons. http://medicalxpress.com/news/2012-05-sequencing-clinical-diagnosis.html Pediatrics Tue, 08 May 2012 00:20:01 EST news255629098 Members of a University of Pennsylvania research team have shown that they can prevent, or even reverse, a blinding retinal disease, X-linked Retinitis Pigmentosa, or XLRP, in dogs. http://medicalxpress.com/news/2012-01-gene-therapy-retinitis-pigmentosa-dogs.html Genetics Mon, 23 Jan 2012 15:00:12 EST news246550009 Scientists at the BC Cancer Agency, Vancouver Coastal Health Research Institute, and the University of British Columbia are excited over a discovery made while studying rare tumour types. http://medicalxpress.com/news/2011-12-gene-links-rare-unrelated-cancers.html Cancer Wed, 21 Dec 2011 17:30:39 EST news243711026 Ohio State University researchers have discovered a hereditary cancer syndrome that predisposes certain people to a melanoma of the eye, along with lung cancer, brain cancer and possibly other types of cancer. http://medicalxpress.com/news/2011-12-hereditary-predisposition-melanoma-eye.html Ophthalmology Thu, 15 Dec 2011 16:18:14 EST news243188281 A transparent cornea is essential for vision, which is why the eye has evolved to nourish the cornea without blood vessels. But for millions of people around the world, diseases of the eye or trauma spur the growth of blood vessels and can cause blindness. http://medicalxpress.com/news/2011-12-gene-humans-mice-cornea-transparency.html Genetics Mon, 12 Dec 2011 15:00:14 EST news242905384 If you had a family history of developing Alzheimer's disease, would you take a genetic test that would give you more information about your chances? http://medicalxpress.com/news/2011-12-alzheimers-genetic-results.html Diseases, Conditions, Syndromes Mon, 12 Dec 2011 11:21:46 EST news242911288 Scientists at University College Dublin, Ireland, have identified a genetic alteration which causes a child to be born with no eyes – a condition called anophthalmia. http://medicalxpress.com/news/2011-12-babies-born-eyes-scientists-genetic.html Genetics Mon, 12 Dec 2011 10:06:01 EST news242906753 The era of widely available next generation personal genomic testing has arrived and with it the ability to quickly and relatively affordably learn the sequence of your entire genome. This would include what is referred to as the "exome," your complete set of protein-coding sequences. http://medicalxpress.com/news/2011-12-power-direct-to-consumer-genome.html Genetics Tue, 06 Dec 2011 16:24:23 EST news242410997 Researchers at Ohio State University Medical Center and Nationwide Children's Hospital have developed a viral vector designed to deliver a gene into the eyes of people born with an inherited, progressive form of blindness that affects mainly males. http://medicalxpress.com/news/2011-11-ohio-state-viral-vector-genetic.html Ophthalmology Wed, 02 Nov 2011 10:46:26 EST news239449490 Fifty years after participating in studies of pentosuria, an inherited disorder once mistaken for diabetes, 15 families again welcomed medical geneticists into their lives. Their willingness to have their DNA analyzed with advanced genomics technologies has solved a mystery more than a hundred years old. http://medicalxpress.com/news/2011-10-modern-genetics-age-old-garrod-fourth.html Genetics Mon, 31 Oct 2011 16:02:18 EST news239295728 In the largest study of its kind to date, Stanford University School of Medicine researchers have shown that women related to a patient with a breast cancer caused by a hereditary mutation -- but who don't have the mutation themselves -- have no higher risk of getting cancer than relatives of patients with other types of breast cancer. The multinational, population-based study involving more than 3,000 families settles a controversy that arose four years ago when a paper hinted that a familial BRCA mutation in and of itself was a risk factor. http://medicalxpress.com/news/2011-10-higher-breast-cancer-women-dont.html Cancer Mon, 31 Oct 2011 16:00:03 EST news239289107 Chromosomal abnormalities linked to intellectual disability can be traced back to the father, particularly those who are older when the child is conceived, finds research published online in the Journal of Medical Genetics. http://medicalxpress.com/news/2011-10-faulty-intellectual-disability-genes-linked.html Genetics Mon, 03 Oct 2011 19:10:48 EST news236887839 Scientists have discovered a biological switch that gives energy-storing white fat the characteristics of energy-burning brown fat. The findings could lead to new strategies for treating obesity. http://medicalxpress.com/news/2011-09-scientists-white-fat-brown.html Medical research Tue, 06 Sep 2011 12:33:26 EST news234531183 Patients with thoracic aortic aneurysms that lead to acute aortic dissections are 12 times more likely to have duplications in the DNA in a region of chromosome 16 (16p13.1) than those without the disease, according to a study led by genetic researchers at The University of Texas Health Science Center at Houston (UTHealth). http://medicalxpress.com/news/2011-06-link-chromosome-region-thoracic-aortic.html Genetics Thu, 16 Jun 2011 17:21:57 EST news227463696 Government guidelines published today on the use of dried blood spots collected during mandatory newborn screening underemphasize the importance of getting the public on board with the practice, according to University of Michigan researcher. http://medicalxpress.com/news/2011-06-vital-residual-newborn-screening-specimens.html Health Tue, 14 Jun 2011 17:01:26 EST news227289668 (Medical Xpress) -- Researchers in the Keck School of Medicine of the University of Southern California (USC), together with scientists in Beijing, China, have discovered a chromosomal mutation responsible for a very rare condition in which people grow excess hair all over their bodies. Investigators hope the finding ultimately will lead to new treatments for this and less severe forms of excessive hair growth as well as baldness. http://medicalxpress.com/news/2011-06-genetic-mutation-excessive-hair-growth.html Genetics Fri, 03 Jun 2011 12:33:26 EST news226323177 Genetic analysis of the tumors from patients with advanced melanoma can clue researchers in to how well patients will respond to a therapy that targets the growth-promoting protein called BRAF, a researcher from the Perelman School of Medicine at the University of Pennsylvania will report on Monday, June 6 at the annual meeting of the American Society of Clinical Oncology. Looking outside of the BRAF gene, the researchers found loss of the tumor suppressor gene PTEN also appears to be associated with patient response to GSK436, which could help guide researchers to even more personalized approaches to melanoma therapy. http://medicalxpress.com/news/2011-06-genes-response-braf-inhibitors-advanced.html Cancer Wed, 01 Jun 2011 15:07:15 EST news226159402 New research aimed to better identify the genetic factors that lead to breast cancer has uncovered a link between the fat mass and obesity associated gene (FTO) and a higher incidence of breast cancer. According to the study conducted at Northwestern Memorial Hospital, people who possess a variant of the FTO gene have up to a 30 percent greater chance of developing breast cancer. Research to identify why the link exists is ongoing, but experts say the finding takes us one step closer to personalized medicine based on genetic risk which would allow for better monitoring and prevention of illness, as well as targeted treatment. http://medicalxpress.com/news/2011-05-link-obesity-gene-breast-cancer.html Cancer Mon, 23 May 2011 11:36:52 EST news225369396 Researchers at the University of Pittsburgh School of Medicine have developed a mouse model of major depressive disorder (MDD) that is based on a rare genetic mutation that appears to cause MDD in the majority of people who inherit it. The findings, which were published online today in the American Journal of Medical Genetics Part B: Neuropsychiatric Genetics EarlyView, could help to clarify the brain events that lead to MDD, and contribute to the development of new and better means of treatment and prevention. This report also illustrates an advance in the design of recombinant mouse models that should be applicable to many human diseases. http://medicalxpress.com/news/2011-05-mouse-depression.html Genetics Thu, 19 May 2011 04:04:30 EST news224996648 A team of researchers is beginning to see exactly what the response to threats looks like in the brain at the cellular and molecular levels. http://medicalxpress.com/news/2011-05-picture-threat-brain-neuroinflammation.html Neuroscience Tue, 03 May 2011 11:27:11 EST news223640808