Researchers probe genetic link to blindness
University of Leeds researchers have used next-generation DNA sequencing techniques to discover what causes a rare form of inherited eye disorders, including cataracts and glaucoma, in young children.
View ArticleScientists discover elusive platelet count and limb development gene
Researchers have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed...
View ArticleResearch helps unlock gene secrets of autosomal dominant nocturnal frontal...
In a national research partnership, Dr Sarah Heron from the University of South Australia's Sansom Research Institute, epilepsy research group, has been working to map the genes responsible for a rare...
View ArticleAustralia-led study in epilepsy breakthrough
An Australia-led study has identified a gene associated with a common form of epilepsy which could lead to earlier diagnosis, a researcher said Tuesday.
View ArticleNew gene discovery for babies born with hole in the heart
(Medical Xpress)—A new gene associated with a form of congenital heart disease in newborn babies – known as "a hole in the heart" has been discovered by researchers.
View ArticleMutations in susceptibility genes common in younger African American women...
A high percentage of African-American women with breast cancer who were evaluated at a university cancer-risk clinic were found to carry inherited genetic mutations that increase their risk for breast...
View ArticleHighest risk Alzheimer's genetic carriers take positive steps after learning...
People who found out they carried an uncommon genetic risk for Alzheimer's disease did not experience more anxiety, depression or distress than non-carriers, and were more active in efforts to reduce...
View ArticleTrial aims to advance prenatal diagnosis of genetic defects
Reproductive genetics researchers at Columbia University Medical Center (CUMC) are leading a multicenter prospective clinical study investigating the effects of chromosomal abnormalities (duplicative...
View ArticleObesity gene testing offers psychological benefit
(HealthDay)—Results from genetic testing for weight gain-related genes may offer psychological benefits beyond their limited clinical utility, according to a study published in the July issue of the...
View ArticleUSPSTF supports counseling, BRCA tests for at-risk women
(HealthDay)—Nine of 10 women do not need and should not receive genetic testing to see if they are at risk for breast or ovarian cancer, an influential panel of health experts announced Monday.
View ArticleGenetic counseling via telephone as effective as in-person counseling
Genetic counseling delivered over the telephone is as effective as face-to-face counseling, finds the largest randomized study to date comparing the two methods. The multi-center study, led by...
View ArticleNational poll shows public divided on genetic testing to predict cancer risk
A national poll from the University of Utah's Huntsman Cancer Institute shows 34 percent of respondents would not seek genetic testing to predict their likelihood of developing a hereditary cancer –...
View ArticleSickle cell trait: Neglected opportunities in the era of genomic medicine
(Boston)—While acknowledging the potential of genomics to prevent and treat disease, researchers from Boston Medical Center (BMC) and Boston University School of Medicine (BUSM) believe it is long past...
View ArticleBRCAPRO model underestimates BRCA1/2 mutation risk
(HealthDay)—Use of the BRCAPRO model for assessment of the likelihood of having a germline BRCA1/BRCA2 mutation, based on age, ethnicity, and family history, may underestimate the risk of mutations,...
View ArticleFew women at high-risk for hereditary breast and ovarian cancer receive...
Mutations in the BRCA1 and BRCA2 genes account for nearly 25 percent of hereditary breast cancers and most hereditary ovarian cancers, yet a study by cancer prevention and control researchers at...
View ArticleUutilizing genetic health care professional reduces unnecessary testing,...
A new Moffitt Cancer Center study published Thursday in Genetics in Medicine shows that counseling from a genetic health care provider before genetic testing educates patients and may help reduce...
View ArticleMaster's thesis is foundation for film that shatters old myths of Down syndrome
Leigh Ann Kaman fell to the floor when doctors told her that her newborn son, Benjamin, had Down syndrome. She and her husband, Brian, felt totally alone.
View ArticleTest helps predict which children with kidney disease will respond to...
A genetic screening test may help predict which patients with one of the most common childhood kidney diseases will respond to standard therapies. The test is described in a study appearing in an...
View ArticleNew DNA test for diagnosing diseases linked to childhood blindness
Researchers in the United Kingdom have demonstrated that advanced DNA testing for congenital cataracts can quickly and accurately diagnose a number of rare diseases marked by childhood blindness,...
View Article'Angelina Jolie effect' prompted more testing for breast cancer genes, study...
(HealthDay)—In the months after actress and activist Angelina Jolie revealed last year that she had undergone a preventive double mastectomy because of an increased risk for breast cancer, the number...
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