http://www.medindia.net/healthnews/gilberts-syndrome-news.asp Medindia largest health website in india. en-us Copyright 2013. All Rights Reserved. Wed, 22 May 2013 06:15:09 GMT http://www.medindia.net/news/pre-birth-genetic-mutation-causes-sturge-weber-syndrome-port-wine-stain-birthmarks-118789-1.htm Researchers at Kennedy Krieger Institute have identified that a genetic mutation that occurs before the birth of a child is responsible for Sturge-Weber syndrome (SWS) and port-wine stain birthmarks, a new study published in the New England Journal of Medicine reveals. SWS is a rare disorder affecting approximately one in 20,000 births, while port-wine birthmarks are more common, affecting approximately one million individuals in the United States. "This is a complete game changer for those ...]]> http://www.medindia.net/news/pre-birth-genetic-mutation-causes-sturge-weber-syndrome-port-wine-stain-birthmarks-118789-1.htm http://www.medindia.net/news/genetic-mutation-increases-risk-of-death-for-thyroid-cancer-patients-117182-1.htm BRAF V600E genetic mutation is associated with a higher cancer-related death among patients with papillary thyroid cancer (PTC), finds study published in JAMA. "Papillary thyroid cancer is the most common endocrine malignancy and accounts for 85 percent to 90 percent of all thyroid cancers," according to background information in the article. "The overall 5-year patient survival rate for PTC is 95 percent to 97 percent. A major clinical challenge is how to reliably distinguish patients ...]]> http://www.medindia.net/news/genetic-mutation-increases-risk-of-death-for-thyroid-cancer-patients-117182-1.htm http://www.medindia.net/news/genetic-mutations-responsible-for-causing-leukemia-identified-117177-1.htm Researchers have identified the genetic mutations causing leukemia, a common type of cancer affecting children. Researchers at The Institute of Cancer Research sequenced the entire set genomes of two sets of identical twins diagnosed with acute lymphoblastic leukemia. It was found that the gene linked with leukemia ETV6-RUNX1 that was generated in the womb was similar in both the pairs of twins. There were 22 similar gene mutations in both pairs, which were not significant in development of leukemia....]]> http://www.medindia.net/news/genetic-mutations-responsible-for-causing-leukemia-identified-117177-1.htm http://www.medindia.net/news/bilirubin-levels-predict-lung-cancer-risk-117022-1.htm Smokers with low bilirubin levels are at a higher risk for lung cancer incidence and mortality compared to those who had highest bilirubin levels, finds study. "Although it was expected that bilirubin may be protective against lung cancer incidence and mortality, we were somewhat surprised that the effect of bilirubin was only evident in smokers, which will have profound public health implications, given that 90 percent of lung cancers occur in smokers," said Xifeng Wu, M.D., Ph.D., professor ...]]> http://www.medindia.net/news/bilirubin-levels-predict-lung-cancer-risk-117022-1.htm http://www.medindia.net/news/genetic-mutations-damage-brain-cells-in-parkinsons-disease-115312-1.htm In familial Parkinson's disease, scientists have discovered how the most common genetic mutations damage brain cells. Parkinson's disease is a gradually progressing disorder of the nervous system that causes stiffness or slowing of movement. The discovery could also open up treatment possibilities for both familial Parkinson's and the more common form of Parkinson's that is not inherited, said researchers at Albert Einstein College of Medicine of Yeshiva University. The most common ...]]> http://www.medindia.net/news/genetic-mutations-damage-brain-cells-in-parkinsons-disease-115312-1.htm http://www.medindia.net/news/genetic-mutations-influence-kidney-disease-risk-114773-1.htm A new study published in the Journal of the American Society of Nephrology reveals that the risk of a serious kidney condition and its progression is linked with certain genetic mutations. The findings may help in diagnosing and treating patients with the disease, and in determining the risks that patients'' relatives face for developing it as well. Several abnormalities in genes that encode complement proteins-molecules of the immune system that mediate the first defense against pathogens-are ...]]> http://www.medindia.net/news/genetic-mutations-influence-kidney-disease-risk-114773-1.htm http://www.medindia.net/news/genetic-mutation-that-cause-pompe-disease-in-dogs-also-responsible-for-the-same-disease-in-humans-114501-1.htm Professor Hannes Lohi and his colleagues at the University of Helsinki's Canine Genetics Research Group have developed a genetic test that can be used to detect Pompe disease, a severe glycogen storage disease usually appearing in Lapphunds but also seen in humans, a new study published in the journal PLOS ONE reveals. This research was completed at the Canine Genetics Research Group lead by professor Hannes Lohi in the University of Helsinki and Folkhalsan Research Center in Finland and will ...]]> http://www.medindia.net/news/genetic-mutation-that-cause-pompe-disease-in-dogs-also-responsible-for-the-same-disease-in-humans-114501-1.htm http://www.medindia.net/news/scientists-identify-genetic-mutation-involved-in-some-autism-behaviors-114232-1.htm A genetic mutation that may be responsible for common behaviors seen in some people with autism, such as difficulty in communicating and resistance to change has been identified by scientists at Washington University School of Medicine in St. Louis. An error in the gene, CELF6, leads to disturbances in serotonin, a chemical that relays messages in the brain and has long been suspected to be involved in autism. The researchers identified the error in a child with autism and then, working ...]]> http://www.medindia.net/news/scientists-identify-genetic-mutation-involved-in-some-autism-behaviors-114232-1.htm http://www.medindia.net/news/genetic-mutation-for-als-discovered-112981-1.htm Western University scientists have discovered a genetic mutation for amyotrophic lateral sclerosis (ALS). This new discovery opens door to future targeted therapies. Dr. Michael Strong, a scientist with Western's Robarts Research Institute and Distinguished University Professor in Clinical Neurological Sciences at the Schulich School of Medicine (and) Dentistry, and colleagues found that mutations within the ARHGEF28 gene are present in ALS. When they looked across both familial and sporadic forms ...]]> http://www.medindia.net/news/genetic-mutation-for-als-discovered-112981-1.htm http://www.medindia.net/news/new-genetic-mutations-associated-with-cowden-syndrome-discovered-111739-1.htm Scientists have uncovered two new genetic mutations associated with Cowden syndrome (CS). The findings of the study have been published in the online version of the iAmerican Journal of Human Genetics/i. Cowden syndrome is a difficult-to-recognize, under-diagnosed condition that carries high risks of breast, thyroid, and other cancers. The discovery of the two new genes - led by Charis Eng, MD, Ph.D., Chair and Founding Director of the Cleveland Clinic's Lerner Research Institute's ...]]> http://www.medindia.net/news/new-genetic-mutations-associated-with-cowden-syndrome-discovered-111739-1.htm http://www.medindia.net/news/most-genetic-mutations-originated-recently-111307-1.htm A new study has found that more than a million single-letter variations in human DNA reveal that in evolutionary terms, most genetic mutations originated fairly recently. These kinds of mutations change one nucleotide - an A, C, T or G - in the DNA sequence. Over 86 percent of the harmful protein-coding mutations of this type arose in humans just during the past 5,000 to 10,000 years. Nucleotides are biological molecules that form the building blocks of nucleic acids (DNA and RNA) and serve ...]]> http://www.medindia.net/news/most-genetic-mutations-originated-recently-111307-1.htm http://www.medindia.net/news/association-of-genetic-mutations-with-intellectual-disability-109395-1.htm Intellectual disability is also known as mental retardation. It is linked to genetic causes; however the exact pathology is not known in all cases. Anita Ranch et al conducted a study to identify genetic variations responsible for sporadic non-syndromic intellectual disability, that is, intellectual disability appearing de-novo in the child and not a part of any syndrome. For the study purpose, 51 children with intellectual disability from the German Mental Retardation Network were enrolled....]]> http://www.medindia.net/news/association-of-genetic-mutations-with-intellectual-disability-109395-1.htm http://www.medindia.net/news/genetic-mutation-linked-to-psychiatric-disease-and-obesity-by-mcgill-researchers-108315-1.htm A small region in the genome that conclusively plays a role in the development of psychiatric disease and obesity was identified by McGill researchers. The key lies in the genomic deletion of brain-derived neurotrophic factor, or BDNF, a nervous system growth factor that plays a critical role in brain development. To determine the role of BDNF in humans, Prof. Carl Ernst, from McGill's Department of Psychiatry, Faculty of Medicine, screened over 35,000 people referred for genetic screening ...]]> http://www.medindia.net/news/genetic-mutation-linked-to-psychiatric-disease-and-obesity-by-mcgill-researchers-108315-1.htm http://www.medindia.net/news/dozens-of-new-de-novo-genetic-mutations-in-schizophrenia-discovered-108005-1.htm Scientists have identified dozens of novel genetic mutations that play key role in schizophrenia development. The study, the largest and most comprehensive of its kind, was published today in the online edition of the journal iNature Genetics/i. Although schizophrenia typically onsets during adolescence and early adulthood, many of the mutations were found to affect genes with higher expression during early-to-mid fetal development. Together, the findings show that both the function ...]]> http://www.medindia.net/news/dozens-of-new-de-novo-genetic-mutations-in-schizophrenia-discovered-108005-1.htm http://www.medindia.net/news/new-genetic-mutation-related-to-hypothyroidism-syndrome-107386-1.htm New studies finds the link between the new genetic mutation and the hypothyroidism syndrome. Loss of function in the X-linked immunoglobulin superfamily member 1 (IGSF1) gene causes central hypothyroidism, testicular enlargement, and variable prolactin deficiency, according to data presented at the 82nd Annual Meeting of the American Thyroid Association in QuA (Copy Right) bec City, QuA (Copy Right) bec, Canada. "ICSF1 involvement in central hypothyroidism is an important discovery because it creates inroads into ...]]> http://www.medindia.net/news/new-genetic-mutation-related-to-hypothyroidism-syndrome-107386-1.htm http://www.medindia.net/news/the-great-expansion-of-early-humans-could-be-the-result-of-a-genetic-mutation-107347-1.htm Researchers at Wake Forest Baptist Medical Center have found that a genetic mutation could be responsible for "the great expansion", a period when early humans moved out from central Africa to the other parts of the continent. By analyzing genetic sequence variation patterns in different populations around the world, three teams of scientists from Wake Forest Baptist, Johns Hopkins University School of Medicine and the University of Washington School of Medicine, Seattle, demonstrated that a ...]]> http://www.medindia.net/news/the-great-expansion-of-early-humans-could-be-the-result-of-a-genetic-mutation-107347-1.htm http://www.medindia.net/news/prevalence-of-genetic-mutations-influenced-by-number-of-colorectal-polyps-104998-1.htm A new study published in the latest issue of JAMA reveals that the polyp count played a vital role in the prevalence of certain gene mutations in patients with multiple colorectal polyps. "Patients with multiple colorectal adenomas [polyps] may carry germline [those cells of an individual that have genetic material that could be passed to offspring] mutations in the APC or MUTYH genes," according to background information in the article. The authors write that guidelines for when genetic evaluation ...]]> http://www.medindia.net/news/prevalence-of-genetic-mutations-influenced-by-number-of-colorectal-polyps-104998-1.htm http://www.medindia.net/news/genetic-mutation-responsible-for-fragile-x-more-common-than-previously-thought-102778-1.htm Mutation of the gene that is responsible for fragile X syndrome, which is the most common form of inherited intellectual disability, is more common than previously thought, a new study has found. Writing this month (June 2012) in the iAmerican Journal of Medical Genetics/i, a team of Wisconsin researchers reports that the cascade of genetic amino acid repeats, which accumulate over generations and culminate in the mutation of a single gene causing fragile X, is occurring with more frequency among Americans than previously believed....]]> http://www.medindia.net/news/genetic-mutation-responsible-for-fragile-x-more-common-than-previously-thought-102778-1.htm http://www.medindia.net/news/role-of-genetic-mutations-in-colon-cancer-development-102376-1.htm The number of mutations are lower in cancerous colon tissues than in normal tissues, says researchers. The findings published in the June 7 issue of IPLoS Genetics./I Mutations are changes in the genetic sequence of a cell's genome and can occur as a result of environmental exposure to viruses, radiation and certain chemicals, or due to spontaneous errors during cell division or DNA replication.Mitochondria, which are primarily responsible for the cell's energy production, are semi-autonomous; ...]]> http://www.medindia.net/news/role-of-genetic-mutations-in-colon-cancer-development-102376-1.htm http://www.medindia.net/news/genetic-mutation-ups-sodium-retention-blood-pressure-study-101953-1.htm Mutation of the gene KCNJ5 increases sodium retention in patients with small adrenal tumors, reveals study. The study of 47 human, benign adrenal gland tumors also showed a mutation of the gene KCNJ5 is twice as likely to occur in women - 71 versus 29 percent - as it points to potential new treatments for some patients who don't respond to current hypertension regimens, said Dr. William E. Rainey, Scientific Director of the Adrenal Center at Georgia Health Sciences University. Addititionally, ...]]> http://www.medindia.net/news/genetic-mutation-ups-sodium-retention-blood-pressure-study-101953-1.htm http://www.medindia.net/news/genetic-mutation-causing-rare-form-of-signal-muscular-atrophy-identified-101161-1.htm Researchers have discovered the genetic mutation causing a rare, inherited spinal muscular atrophy. "Typical spinal muscular atrophies begin in infancy or early childhood and are fatal, involving all motor neurons, but SMA-LED predominantly affects nerve cells controlling muscles of the legs. It is not fatal and the prognosis is good, although patients usually are moderately disabled and require assistive devices such as bracing and wheelchairs throughout their lives," said Robert H. Baloh, ...]]> http://www.medindia.net/news/genetic-mutation-causing-rare-form-of-signal-muscular-atrophy-identified-101161-1.htm http://www.medindia.net/news/genetic-mutations-associated-with-fragile-x-can-also-be-linked-to-autism-100720-1.htm Fragile X syndrome could be linked to autism after a new study published in the journal Neuron found that both the conditions shared several genes and genetic mutations. It is well established that genetic variation caused by mutation can lead to autism spectrum disorders, and research has repeatedly implicated "de novo" (new) mutations, those that show up for the first time in affected children, as being particularly relevant. Identification of the specific genes associated with autism may ...]]> http://www.medindia.net/news/genetic-mutations-associated-with-fragile-x-can-also-be-linked-to-autism-100720-1.htm http://www.medindia.net/news/diverse-cases-of-autism-and-genetic-mutations-at-conception-linked-99886-1.htm Nearly 15 percent of autism cases in families with a single autistic child are linked to impulsive mutations that occur in sex cells, Yale University researchers report in the April 4 issue of the journal INature/I. The findings are the result of DNA sequencing of every gene in 238 families, each with only one autistic child - the most sophisticated analysis yet of the genetic links to autism. The study identified hundreds of such de novo or spontaneous sequence variations, and as more are ...]]> http://www.medindia.net/news/diverse-cases-of-autism-and-genetic-mutations-at-conception-linked-99886-1.htm http://www.medindia.net/news/researchers-find-genetic-mutation-in-familial-chronic-diarrhea-syndrome-99238-1.htm Chronic diarrhea is a common symptom that occurs when the intestines are not able to properly process our diet. Chronic diarrhea can also be inherited, most commonly through conditions with genetic components such as irritable bowel syndrome. Researchers in Norway, India, and at the HudsonAlpha Institute for Biotechnology have identified one heritable DNA mutation that leads to chronic diarrhea and bowel inflammation. Shawn Levy, Ph.D., faculty investigator at HudsonAlpha said, "Based on ...]]> http://www.medindia.net/news/researchers-find-genetic-mutation-in-familial-chronic-diarrhea-syndrome-99238-1.htm http://www.medindia.net/news/more-accurate-diagnosis-of-genetic-mutations-possible-via-new-virtual-tool-97177-1.htm The diagnosis and selection of treatment for cancer can be aided by DNA sequencing to detect genetic mutations. Current methods of testing DNA samples, Sanger sequencing and pyrosequencing, occasionally produce complex results that can be difficult or impossible to interpret. Scientists at the Johns Hopkins University School of Medicine have developed a free software program, Pyromaker, that can more accurately identify such complex genetic mutations. Pyromaker is a web-based application ...]]> http://www.medindia.net/news/more-accurate-diagnosis-of-genetic-mutations-possible-via-new-virtual-tool-97177-1.htm http://www.medindia.net/news/Genetic-Mutation-Associated-With-Prostate-Cancer-Identified-95997-1.htm First prostate cancer gene mutation has been discovered by US researchers. This finding would raise new hope of improving early prostate cancer screening. The mutation appears only in a small subset of prostate cancer patients, but those who inherited it showed 10 to 20 times higher risk of developing prostate cancer, particularly before age 55, the researchers said. The advance, described in the New England Journal of Medicine, comes amid a two-decade search for clues about the genetic ...]]> http://www.medindia.net/news/Genetic-Mutation-Associated-With-Prostate-Cancer-Identified-95997-1.htm http://www.medindia.net/news/Link-Between-Rare-Genetic-Mutations-and-Bipolar-Disorder-95279-1.htm Rare copy number variants or CNVs appear to play a significant role in the bipolar disorder, say University of California researchers. The findings will be published in the December 22 issue of the journal INeuron/I. CNVs are genomic alterations in which there are too few or too many copies of sections of DNA. Researchers have known that spontaneously occurring (de novo) CNVs - genetic mutations not inherited from parents - significantly increase the risk for some neuropsychiatric ...]]> http://www.medindia.net/news/Link-Between-Rare-Genetic-Mutations-and-Bipolar-Disorder-95279-1.htm http://www.medindia.net/news/Scientists-Identify-Rare-Genetic-Mutations-Linked-To-Bipolar-Disorder-95117-1.htm Abnormal sequences of DNA known as rare copy number variants, or CNVs, seem to play a significant role in the risk for early onset bipolar disorder, an international team of scientists, led by researchers at the University of California, San Diego School of Medicine observe. The findings will be published in the December 22 issue of the journal INeuron/I. CNVs are genomic alterations in which there are too few or too many copies of sections of DNA. Researchers have known that spontaneously ...]]> http://www.medindia.net/news/Scientists-Identify-Rare-Genetic-Mutations-Linked-To-Bipolar-Disorder-95117-1.htm http://www.medindia.net/news/Genetic-Mutation-Increases-Risk-of-Recurrence-in-Some-Older-Patients-With-Acute-Leukemia-94810-1.htm A new study by researchers at the Ohio State University Comprehensive Cancer Center - Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC - James) says that older people with acute myeloid leukemia and normal looking chromosomes in their cancer cells have a higher risk of recurrence if they have mutations in a gene called ASXL1. The study is the first to investigate the influence of these gene mutations on prognosis in patients with cytogenetically normal acute myeloid ...]]> http://www.medindia.net/news/Genetic-Mutation-Increases-Risk-of-Recurrence-in-Some-Older-Patients-With-Acute-Leukemia-94810-1.htm http://www.medindia.net/news/Genetic-Mutations-That-Affect-Immune-Response-to-Measles-Vaccination-Identified-91116-1.htm Researchers at Mayo Clinic have identified gene mutations that control the human response to disease vaccination. This new approach could answer many of the deep-seated questions that plague vaccinology, including why patients respond so differently to identical vaccines and how to minimize the side effects to vaccination. Led by Gregory Poland, M.D., researchers in Mayo's Vaccine Research Group are publishing results of two genetic studies that identify mutations linked to immune response to the measles vaccine....]]> http://www.medindia.net/news/Genetic-Mutations-That-Affect-Immune-Response-to-Measles-Vaccination-Identified-91116-1.htm http://www.medindia.net/news/70-Genetic-Mutations-Lead-to-Colon-Cancer-Study-87881-1.htm In a recent research it was found that at least 70 genetic mutations are involved in colon cancer formation. Scientists say that this number is far more than previously thought. Based on the study, UT Southwestern Medical Center researchers are suggesting a new approach to colon cancer treatments targeting multiple genes and pathways simultaneously. Current cancer treatments target just one or two known cancer-driver genes believing this would be beneficial to patients. While patients ...]]> http://www.medindia.net/news/70-Genetic-Mutations-Lead-to-Colon-Cancer-Study-87881-1.htm http://www.medindia.net/news/Scientists-Identify-Genetic-Mutations-Behind-Meckel-Joubert-Syndrome-87604-1.htm The way in which genetic mutations cause a number of rare human diseases, such as Meckel syndrome, Joubert syndrome and several other disorders has been discovered by scientists. Meckel syndrome causes deadly brain malformations and kidney cysts. Joubert syndrome strikes people with severe movement disorders. The result gives doctors new possible targets for designing better diagnostics to detect and drugs to treat these diseases. The study led by University of California, San Francisco, ...]]> http://www.medindia.net/news/Scientists-Identify-Genetic-Mutations-Behind-Meckel-Joubert-Syndrome-87604-1.htm http://www.medindia.net/news/Genetic-Mutations-in-Myelodysplastic-Syndrome-Could-Improve-Treatment-87268-1.htm Researchers are in the way to improve the methods and predict how long the patients with myelodysplastic syndromes (MDS) will live after the diagnosis by identifying certain gene mutations in their abnormal bone marrow. These findings are published in the June 30 issue of the iNew England Journal of Medicine/i. MDS is a cancer of the bone marrow and blood that can range in severity and likelihood to progress to acute leukemia. For patients with related diseases, such as acute myeloid leukemias ...]]> http://www.medindia.net/news/Genetic-Mutations-in-Myelodysplastic-Syndrome-Could-Improve-Treatment-87268-1.htm http://www.medindia.net/news/Higher-Levels-of-Bilirubin-Linked-to-Reduced-Risk-of-Respiratory-Disease-80950-1.htm In an analysis that was carried out in 500,000 adults it was found that levels of bilirubin in blood were associated with a lower risk of lung cancer, chronic obstructive pulmonary disease. Bilirubin compound is produced by the breakdown of hemoglobin from red blood cells. Serum total bilirubin is routinely measured in the primary care setting to identify hepatobiliary (liver, gall bladder and bile ducts) and blood diseases. Bilirubin may have cytoprotective (cell protective) properties, ...]]> http://www.medindia.net/news/Higher-Levels-of-Bilirubin-Linked-to-Reduced-Risk-of-Respiratory-Disease-80950-1.htm http://www.medindia.net/news/Research-Links-Genetic-Mutations-With-Increased-PSA-and-Prostate-Cancer-77593-1.htm Austrian researchers have uncovered mutations throughout the mitochondrial genome that are associated with prostate cancer. An exciting aspect of the study, published by Cell Press on December 2 in the IAmerican Journal of Human Genetics/I, is the association of tRNA mutations with elevated levels of prostate-specific antigen (PSA) in Austrian men diagnosed with various stages of prostate cancer. Prostate cancer is among the most prevalent cancers diagnosed in the United States and Europe....]]> http://www.medindia.net/news/Research-Links-Genetic-Mutations-With-Increased-PSA-and-Prostate-Cancer-77593-1.htm http://www.medindia.net/news/Scientists-Uncover-Link-Between-Certain-Genetic-Mutations-and-Diabetes-67989-1.htm The mystery of how certain genetic mutations lead to Type 1 diabetes, which has baffled scientists for over 40 years, has finally been solved by The Scripps Research Institute. According to researchers, their findings could lead to novel therapies for Type 1 diabetes and other autoimmune diseases. "People have been looking for the mechanism linking HLA and autoimmunity for 40 years. This study provides a big leap forward in understanding and suggests a critical new target to ...]]> http://www.medindia.net/news/Scientists-Uncover-Link-Between-Certain-Genetic-Mutations-and-Diabetes-67989-1.htm http://www.medindia.net/news/Bad-Weather-and-Genetic-Mutations-Make-Scots-Red-Headed-66101-1.htm Blame the prevalence of ginger hair among the Scottish people on genes and even the weather, says a new study. A genetics research student Emily Pritchard, 26, revealed her insights in an article about her sister's red hair for a University of Edinburgh magazine. She explained the love of ginger hair among the Scots through a formula - genetic mutation + bad weather = red heads. And said that the formula "was speculation rather than scientific study, but it is plausible....]]> http://www.medindia.net/news/Bad-Weather-and-Genetic-Mutations-Make-Scots-Red-Headed-66101-1.htm http://www.medindia.net/news/Scientists-Identify-Genetic-Mutations-Linked-to-Risk-of-Fungal-Infections-60244-1.htm Genetic mutations that may put individuals at increased risk of fungal infections has been identified by scientists from University College London and Radboud University. According to researchers, the discoveries mark a significant step in the understanding of genetic susceptibility to fungal diseases. The findings have implications for people suffering from chronic mucocutaneous candidiasis (CMC), as well as more common infections like vaginal candidosis (thrush), they said. The UCL-led ...]]> http://www.medindia.net/news/Scientists-Identify-Genetic-Mutations-Linked-to-Risk-of-Fungal-Infections-60244-1.htm http://www.medindia.net/news/Researchers-Identify-New-Genetic-Mutations-Responsible-For-Deadly-Skin-Cancer-57366-1.htm Drawing on the power of DNA sequencing, researchers at the National Institutes of Health have identified a new group of genetic mutations involved in the deadliest form of skin cancer, melanoma. This discovery is particularly encouraging because some of the mutations, which were found in nearly one-fifth of melanoma cases, reside in a gene already targeted by a drug approved for certain types of breast cancer. In the United States and many other nations, melanoma is becoming increasingly more common....]]> http://www.medindia.net/news/Researchers-Identify-New-Genetic-Mutations-Responsible-For-Deadly-Skin-Cancer-57366-1.htm http://www.medindia.net/news/Genetic-Mutations-may-Hinder-Lung-Development-In-Children-49270-1.htm Scientists at the University of Pittsburgh Graduate School of Public Health and the German Research Center for Environmental Health have identified certain genetic mutations that may lead to poor lung development in children. Poor lung development makes kids more vulnerable to diseases such as chronic obstructive pulmonary disease (COPD) later in life. For the study, lead researchers Dr George Leikauf, and Dr Holger Schulz looked at a gene called superoxide dismutase 3 (SOD3), previously ...]]> http://www.medindia.net/news/Genetic-Mutations-may-Hinder-Lung-Development-In-Children-49270-1.htm http://www.medindia.net/news/Scientists-Identify-Genetic-Mutations-Linked-to-Longer-Cancer-Survival-Times-47704-1.htm Scientists have identified two genetic mutations they believe are linked with the most common types of brain cancer and longer survival times, says a newly published research. Researchers at Johns Hopkins and Duke universities discovered variations in the IDH1 and IDH2 genes that are associated with three quarters of the most common types of cancer tumors, known as gliomas. It is hoped the findings could open the way to more successful treatment of the disease. Patients with these types ...]]> http://www.medindia.net/news/Scientists-Identify-Genetic-Mutations-Linked-to-Longer-Cancer-Survival-Times-47704-1.htm http://www.medindia.net/news/New-Way-to-Identify-Genetic-Mutations-Behind-Syndrome-Leading-to-Sudden-Cardiac-Death-39687-1.htm New Zealand researchers say they have devised a new way to identify genetic mutations behind a syndrome that leads to sudden cardiac death. Currently available genetic screening tests for long QT syndrome (LQTS) miss about a third of cases. Researchers at The University of Auckland's Faculty of Medical and Health Sciences have recently made an important discovery that could significantly increase the diagnostic hit rate. Genetic diagnoses are important in LQTS because they identify the type of LQTS ...]]> http://www.medindia.net/news/New-Way-to-Identify-Genetic-Mutations-Behind-Syndrome-Leading-to-Sudden-Cardiac-Death-39687-1.htm http://www.medindia.net/news/Genetic-Mutations-may-Cause-Migraine-38715-1.htm Migraines may be caused by gene mutations, researchers from Vanderbilt University Medical Centre have revealed. By studying a rare, inherited form of migraine, the team of researchers claim to have discovered clues to the biological basis of the painful, debilitating disorder. Lead researcher Dr Alfred George Jr, reports that genetic mutations linked to this rare form of familial migraine alter the function of sodium channels - protein "tunnels" through brain cell membranes involved in the electrical conduction of nerve impulses....]]> http://www.medindia.net/news/Genetic-Mutations-may-Cause-Migraine-38715-1.htm http://www.medindia.net/news/Genetic-Mutations-Induce-Human-like-Sleep-Disorder-in-Mice-37052-1.htm Mutations in two genes responsible for electrical excitability in a portion of the brain involved in sleep can give rise to an insomnia-like disorder in mice, UT Southwestern Medical Center researchers have found. The scientists can make use of these findings for a better understanding of the disorder and can also lead them to develop an animal model for devising new treatments. "This is one of the most dramatic sleep-disturbance mutations. The mice sleep half as much as normal mice," said Dr....]]> http://www.medindia.net/news/Genetic-Mutations-Induce-Human-like-Sleep-Disorder-in-Mice-37052-1.htm http://www.medindia.net/news/Genetic-Mutations-That-Triggers-Prostate-Cancer-Confirmed-32392-1.htm A study has found that a molecular change triggers the prostate cancer growth in mice and human cell lines. This study was conducted by a team of researchers at Fred Hutchinson Cancer Research Center. A significant proportion of human prostate cancers carry a chromosomal rearrangement that results in the overexpression of the ETS transcription factor ERG, a protein that controls gene expression. Until now, the functional significance of this event has been poorly understood. Studying prostate cells ...]]> http://www.medindia.net/news/Genetic-Mutations-That-Triggers-Prostate-Cancer-Confirmed-32392-1.htm http://www.medindia.net/news/Tiny-Genetic-Mutations-can-Lead-to-Serious-Sexual-Diseases-in-Men-31536-1.htm An international study has revealed that tiny genetic mutations are enough to create a virulent form of chlamydia, which leads to serious sexual disease in men. The researchers behind the study - including experts from the Wellcome Trust Sanger Institute, the University of Southampton Medical School, University College London and the University of California, Berkeley - say that the strain that causes lymphogranuloma vernerum (LGV) is very similar to other forms of chlamydia. They have also found ...]]> http://www.medindia.net/news/Tiny-Genetic-Mutations-can-Lead-to-Serious-Sexual-Diseases-in-Men-31536-1.htm http://www.medindia.net/news/Genetic-Mutations-in-Mice-may-Harbour-Cure-for-Human-Neuropathy-31141-1.htm Researchers say that utilizing mouse models to study mutations in a gene called dynein, required for the proper functioning of sensory nerve cells, may pave the way for better treatments for a human nerve disorder known as peripheral neuropathy. Peripheral neuropathy is caused due to the damage to the nerves and nerve processes located outside the brain and spinal cord. Dr. Brian Popko, Jack Miller Professor in Neurological Diseases at the University of Chicago Medical Center, says that a study ...]]> http://www.medindia.net/news/Genetic-Mutations-in-Mice-may-Harbour-Cure-for-Human-Neuropathy-31141-1.htm http://www.medindia.net/news/Researchers-Identify-Genetic-Mutations-for-Hereditary-Diffuse-Gastric-Cancer-21653-1.htm A study, published in the June 6 issue of JAMA, has identified novel genetic mutations linked to hereditary diffuse gastric cancer. It states that these mutations are due to both independent mutational events and common ancestry. The study has been released early to coincide with its presentation at the annual meeting of the American Society of Clinical Oncology. According to background information in the article, gastric cancer is the second most common cause of cancer death worldwide. There ...]]> http://www.medindia.net/news/Researchers-Identify-Genetic-Mutations-for-Hereditary-Diffuse-Gastric-Cancer-21653-1.htm http://www.medindia.net/news/view_news_main.asp?x=16823 The standard treatment for new born babies who develop jaundice soon after birth, involves exposing them to strong light. French researchers say that this increases the likelihood of moles developing on the skin of the babies later in life. Such moles are termed melanocytic naevi in medical jargon. Since the development of certain skin cancers ,like melanoma ,are linked to naevi, the researchers warn that it is important to ensure that new borns are given sufficient protection when exposing them to intense light therapy....]]> http://www.medindia.net/news/view_news_main.asp?x=16823 http://www.medindia.net/news/view_news_main.asp?x=16804 Genetic mutations have been identified in some autistic children by French scientists that may open up new vistas in the study of the disorder. Sequencing of a gene called SHANK3 in over 200 participants, each suffering from Autism Spectrum Disorders (ASD) revealed mutations in the gene in three families. SHANK 3 encodes a protein which interacts with certain other proteins termed neuroligins which play a role in generating impulses to the nerves, spinal column and the brain. Thomas Bourgeron of ...]]> http://www.medindia.net/news/view_news_main.asp?x=16804