http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. Researchers of the hereditary cancer research group at the Bellvitge Biomedical Research Institute (IDIBELL) and the Catalan Institute of Oncology (ICO) conducted a functional and structural study of seven missense variants of the BRCA1 gene concluding that three of these variants are pathogenic, linked to the risk of suffering breast or ovarian cancer. The study has been published in the journal PLoS One http://medicalxpress.com/news/2013-04-mutations-brca1-gene-responsible-breast.html Cancer Thu, 18 Apr 2013 13:11:46 EST news285509490 The American College of Medical Genetics and Genomics (ACMG) has just released an important new Policy Statement on "Noninvasive Prenatal Screening for Fetal Aneuploidy." The Statement can be found in the Publications section of the ACMG website at http://www.acmg.net and will soon be published in the peer-reviewed medical journal, Genetics in Medicine. http://medicalxpress.com/news/2013-04-acmg-statement-noninvasive-prenatal-screening.html Other Mon, 08 Apr 2013 12:43:38 EST news284643812 (HealthDay)—The U.S. Preventive Services Task Force (USPSTF) recommends that BRCA1 and BRCA2 genetic testing be limited to women whose family histories are associated with an increased likelihood of having BRCA mutations. http://medicalxpress.com/news/2013-04-uspstf-brca-women-family-history.html Cancer Tue, 02 Apr 2013 13:20:01 EST news284125753 Researchers at Moffitt Cancer Center and colleagues in Canada have published study results focused on black women younger than 50, a population disproportionately afflicted with and dying from early-onset breast cancer compared to their white counterparts. The research published in the Jan. 16 issue of The Breast Journal. http://medicalxpress.com/news/2013-03-genetic-strategies-young-black-female.html Cancer Thu, 21 Mar 2013 11:47:54 EST news283085136 When a child is born with a disorder of sex development, decisions regarding gender assignment and genital surgery are often made quickly and under pressure. http://medicalxpress.com/news/2013-01-u-m-parents-children-disorders-sex.html Health Wed, 16 Jan 2013 15:38:25 EST news277573098 So, is it a girl or a boy? This is the first question parents ask at the birth of an infant. Though the answer is obvious, the mechanism of sex determination is much less so. Researchers at the University of Geneva (UNIGE) attempt to shed light on this complex process by identifying the crucial role played by insulin and IGF1 and IGF2 growth factors, a family of hormones known for its role in metabolism and growth. In the absence of these factors at the time of sex determination, embryos do not differentiate into either male or female and have no adrenal glands. The results of this study, published in the journal PLOS Genetics, allow us to better understand sexual development and will eventually improve diagnosis and genetic counseling practices for individuals with disorders of sex development. http://medicalxpress.com/news/2013-01-embryo-male-female.html Genetics Thu, 03 Jan 2013 17:00:10 EST news276442976 Cleveland Clinic researchers from the Lerner Research Institute have uncovered two new genes associated with Cowden syndrome (CS) according to a new study, published today in the online version of the American Journal of Human Genetics. http://medicalxpress.com/news/2012-12-genetic-mutations-cowden-syndrome.html Genetics Thu, 13 Dec 2012 12:00:13 EST news274620353 Whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days, scientists reported today at the American Society of Human Genetics (ASHG) 2012 meeting in San Francisco. http://medicalxpress.com/news/2012-11-genome-sequencing-de-novo-rearrangements.html Genetics Wed, 07 Nov 2012 13:30:01 EST news271508420 Parents of newborns with the sickle cell anemia trait were less likely to receive genetic counseling than parents whose babies are cystic fibrosis carriers, a new study from the University of Michigan shows. http://medicalxpress.com/news/2012-09-parents-babies-sickle-cell-trait.html Genetics Tue, 11 Sep 2012 12:25:57 EST news266585146 (HealthDay)—Receiving genetic risk counseling does not significantly alter self-reported motivation or prevention program adherence for overweight individuals at risk for type 2 diabetes, according to a study published online Aug. 28 in Diabetes Care. http://medicalxpress.com/news/2012-09-genetic-doesnt-affect-pre-diabetes-behavior.html Diabetes Fri, 07 Sep 2012 12:50:01 EST news266238353 (Medical Xpress) -- Researchers at Moffitt Cancer Center have found that when breast cancer patients are offered pre-test genetic counseling before definitive breast cancer surgery, patients exhibited decreases in distress. Those offered pre-test genetic counseling after surgery improved their informed decision-making. Patients in both groups showed increases in their cancer knowledge with pre-test genetic counseling. http://medicalxpress.com/news/2012-08-pre-test-genetic-cancer-knowledge-brca.html Cancer Wed, 15 Aug 2012 02:51:30 EST news264217873 Children born with cleft lip, cleft palate and other craniofacial disorders face numerous medical challenges beyond appearance. http://medicalxpress.com/news/2012-05-cleft-lippalate-cosmetic-problems.html Diseases, Conditions, Syndromes Tue, 22 May 2012 17:38:46 EST news256927122 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 The most common kidney disease passed down through families, autosomal dominant polycystic kidney disease (ADPKD) affects one in 400 to 1,000 individuals and is characterized by cysts on the kidneys. The condition slowly gets worse and leads to kidney failure. http://medicalxpress.com/news/2011-10-gene-mutations-early-severe-kidney.html Genetics Mon, 24 Oct 2011 18:00:57 EST news238698041 A Montreal-led international team has identified the mutated gene responsible for three forms of leukodystrophies, a group of childhood-onset neurodegenerative disorders. Mutations in this gene were identified in individuals from around the world but one mutation occurs more frequently in French-Canadian patients from Quebec. Published in the September issue of the American Journal of Human Genetics and selected for the Editors' Corner of the journal, the findings are crucial to the development of diagnostic tests and genetic counseling for families, and provide insights into a new mechanism for these disorders of the brain. http://medicalxpress.com/news/2011-09-gene-responsible-childhood-neurodegenerative-diseases.html Genetics Mon, 12 Sep 2011 16:13:43 EST news235062764 UT Southwestern Medical Center has developed a new lifesaving genetic screening program for families at high risk of contracting colorectal cancer, a deadly yet highly preventable form of cancer. http://medicalxpress.com/news/2011-09-ut-southwestern-families-high-colorectal.html Cancer Thu, 01 Sep 2011 04:43:42 EST news234071007 World-renowned genetics expert Aubrey Milunsky, MD, DSc, has penned a new book focused on new DNA tests that have dramatically expanded our ability to avoid, prevent, diagnose, predict and treat many genetic disorders. Based on a lifetime of experience, he recounts the lessons learned from many families who benefitted from new advances in genetics, or could have, if they had only known. The book, Your Genes, Your Health: A Critical Family Guide That Could Save Your Life, provides important information about many genetic disorders, more especially since each of us unwittingly carries a significant number of harmful genes. http://medicalxpress.com/news/2011-08-busm-professor-authors-knowledge-genes.html Genetics Fri, 26 Aug 2011 11:46:57 EST news233577994 A new analysis has found that many doctors report that they do not appropriately offer breast and ovarian cancer counseling and testing services to their female patients. Published early online in CANCER, a peer-reviewed journal of the American Cancer Society, the study indicates that efforts are needed to encourage these services for high-risk women and discourage them for average-risk women. http://medicalxpress.com/news/2011-07-mismatch-cancer-genetics-guidelines-physician.html Cancer Mon, 25 Jul 2011 03:22:25 EST news230782918 After years of building hope for a treatment, Rochester researchers and clinicians will begin the first controlled clinical trial for Juvenile Batten disease this summer, thanks to $1 million in grants from the Food and Drug Administration (FDA) and the Batten Disease Support and Research Association (BDRSA). The trial will examine whether mycophenolate mofetil, a drug FDA-approved to suppress the immune system and prevent organ rejection in children, is safe for these children and whether it can slow or halt the progression of the fatal neurodegenerative disease. http://medicalxpress.com/news/2011-05-clinical-trial-juvenile-batten-disease.html Diseases, Conditions, Syndromes Tue, 31 May 2011 11:43:12 EST news226060965 Mayo Clinic has developed a screening procedure that could dramatically increase testing for Lynch syndrome, a hereditary genetic disorder that raises cancer risk, particularly for colorectal cancer. An estimated 3 percent of colon cancers can be attributed to Lynch syndrome. At least 80 percent of people with Lynch syndrome develop colorectal cancer, many of them before age 50. http://medicalxpress.com/news/2011-05-mayo-clinic-lynch-syndrome-factor.html Cancer Wed, 18 May 2011 12:00:07 EST news224938787 An international panel of experts from The Heart Rhythm Society and the European Heart Rhythm Association issued new guideline recommendations for all health care professionals about cardiovascular genetic testing at the Heart Rhythm Society's 32nd Annual Scientific Sessions. http://medicalxpress.com/news/2011-05-guidelines-cardiovascular-genetic.html Cardiology Fri, 06 May 2011 12:58:38 EST news223905481 Scientists from the Walter and Eliza Hall Institute and the University of Melbourne have used innovative new technologies to identify the gene responsible for a rare but fatal hereditary brain disorder. The discovery will make it possible to diagnose the disease through a blood test rather than a brain biopsy. http://medicalxpress.com/news/2011-05-technology-gene-responsible-kufs-disease.html Genetics Thu, 05 May 2011 12:58:23 EST news223819066