Latest Medical genetics Stories

An international consortium of genetics experts has issued a consensus statement recommending chromosomal microarray (CMA) as the new standard practice for genetic evaluation of children with unexplained developmental delay, autism or birth defects.The statement and a related research review are published in the May 14, 2010 issue of the American Journal of Human Genetics."CMA gives us a huge improvement in the diagnostic yield of genetic testing and in our ability to counsel parents...

BETHESDA, Md., April 1 /PRNewswire-USNewswire/ -- The American College of Medical Genetics (ACMG), one of the original plaintiffs in the anti-gene-patenting lawsuit filed in 2009, celebrated the US District Court ruling yesterday that genes are "unpatentable." The outcome of this case is likely to have far-reaching positive implications for physicians, researchers and patients. "The invalidation of gene patents will allow patients to get second opinions on test results, encourage quality...

ALBUQUERQUE, N.M., March 26 /PRNewswire-USNewswire/ -- A pioneering professor and investigator at the forefront of genetic services in the United Kingdom who helped define rare genetic diseases is the 2010 recipient of the March of Dimes/Colonel Harland Sanders Award for lifetime achievement in the field of genetic sciences. Dian Donnai, a professor of medical genetics at the University of Manchester and the current President of the European Society for Human Genetics, is known for her...

In largest study to date, chromosomal microarray analysis picks up more abnormalities than current testsA large study from Children's Hospital Boston and the Boston-based Autism Consortium finds that a genetic test that samples the entire genome, known as chromosomal microarray analysis, has about three times the detection rate for genetic changes related to autism spectrum disorders (ASDs) than standard tests. Publishing in the April issue of Pediatrics (and online March 15), the authors...

NEW YORK, Feb. 28 /PRNewswire/ -- Genetic diseases affect an estimated 12 million Americans, yet according to a survey of 1,000 people conducted by the Genetic Disease Foundation (GDF), while two-thirds of those surveyed were willing to and saw the benefits of undergoing genetic testing, close to 80 percent had never talked to their physician about genetic screening - an inconsistency that can have serious implications on a person's overall health and the health of their immediate family...

RALEIGH, N.C., Feb. 23 /PRNewswire/ -- After a devastating loss of their five month old son to a genetically linked disease, a North Carolina couple finds hope for a healthy baby through an innovative technology called Preimplantation Genetic Diagnosis (PGD). Using embryo biopsy, PGD allows geneticists to screen for disorders such as Down syndrome, cystic fibrosis, sickle cell disease and spinal muscular atrophy in the earliest stages of life. Joanne and Blaine Reese of Macon, North...

Scientists have uncovered a new gene that could help save the sight of patients with a type of inherited blindness.The international research team led by the University of Leeds found that the TSPAN12 gene is faulty in patients with a disease known as FEVR (Familial Exudative Vitreoretinopathy), which affects the development of the eye.While many FEVR patients are registered blind or visually impaired, members of the same family may carry the faulty gene without showing any symptoms. It is...

Using sophisticated genetic technology, a consortium of researchers led by Baylor College of Medicine has narrowed down the reason for abnormalities in learning and behavior inherited in some families to loss of a specific gene called a nictotinic receptor.Finding the defect required scanning the genomes of more than 10,000 people, said Dr. Pawel Stankiewicz, assistant professor of molecular and human genetics at BCM and an author on the report in Nature Genetics.Links problems to a...

The mutated gene, which causes Joubert Syndrome, is carried by 1 in 92 Ashkenazi JewsTwo scientists from Cold Spring Harbor Laboratory (CSHL) are part of an international team that has discovered a genetic mutation that causes Joubert Syndrome. JBTS, as it is commonly called, is a devastating inherited neurological disease that is very rare in the general population but found relatively more often among Ashkenazi Jews.The study was published in collaboration with Dor Yeshorim, a non-profit...

Several lines of evidence, including the observation that the protein I-1 is downregulated in human failing hearts, have led to the suggestion that gene therapy to express a constitutively active form of the protein (I-1c) might provide a new approach to treating heart failure. However, Ali El-Armouche, Thomas Eschenhagen, and colleagues, at University Medical Center Hamburg-Eppendorf, Germany, have now generated data in mice indicating that I-1c might have deleterious effects on the heart...