Scientists at the National Institutes of Health (NIH) have developed a set of assays that they say are robust, inexpensive, and suitable for initial patient screening of patients with Fragile X-related disorders. The specifics of new diagnostic tests for Fragile X syndrome, the most common heritable cause of intellectual disability and…

Scientists at Johns Hopkins University have utilized next-generation sequencing methods to identify 84 potential inherited gene mutations that may contribute to the most severe forms of bipolar disorder (BD). The investigators say their study—“Exome Sequencing of Familial Bipolar Disorder”—which recently published in JAMA Psychiatry, is one of the first to…

Effectively putting the genome on the couch, a team of medical researchers and psychologists has identified genetic variants associated with subjective well-being, depression, and neuroticism. This investigation of behavioral genetics was unusually fruitful mainly because it was so wide-ranging. More than 190 scientists conducted genome-wide association studies (GWAS), and they…

Sponsor: Ambry Genetics Ambry Genetics is launching a new suite of genetic tests for neurodevelopmental conditions such as Autism, Rett Syndrome, intellectual disorders (ID), and epilepsy. These new panels should aid in making a specific diagnosis and enable physicians to choose the best diagnostic approach for each affected individual. These…

A computer system developed by Deep Genomics can mimic how cells read DNA to sustain life. It can also show what happens within cells when DNA is altered. These capabilities, extended and enhanced by means of machine learning, allow the system to do more than suggest correlations between genetic variations…

Cerebral palsy (CP) is the most common form of physical disability in children, with an incidence rate of approximately two cases for every 1,000 live births. Historically, CP has been attributed to an array of factors such as asphyxia, stroke, and infections in the developing brains. However, researchers from The…

Averages shout, and individuals whisper. That, in a nutshell, is the frustration of single-cell transcriptomics. Although innumerable cell types have unique gene-expression profiles, they are hard to discern. Great, thundering herds of cells typically give up their RNA to be sequenced all in one batch. It is possible to effectively…

Promising to bring the benefits of genetic testing to every woman and man, Color Genomics said yesterday it was launching with $15 million in financing, and an immediately-available $249 test for genes linked to breast and ovarian cancers. The company’s Color Test is designed to analyze mutations in the 19…

IntegraGen will oversee high-throughput sequencing activities for the National Reference Center (NRC) and microbiological collections at the Institut Pasteur. The partnership’s primary objective, according to IntegraGen, is to increase access to next-generation sequencing technologies for the 15 NRCs and the institute’s microbiology collection. The partnership also aims to establish reference…

Since the first in vitro fertilization (IVF) birth in 1978 more than 5 million babies have been born using this method. In order to alleviate added stress for couples already experiencing difficulties to conceive, fertility scientists utilize pre-implantation genetic diagnosis (PGD) techniques to detect large chromosomal abnormalities or gene mutations…

In October, the South Carolina-based Greenwood Genetic Center (GGC) launched a whole exome sequencing (WES) program. The technique, carried out via next-generation sequencing, is particularly appropriate for patients who need additional genetic testing, e.g., chromosome analysis and single gene sequencing, beyond traditional approaches. Bioinformatics specialists analyze the results to help…

The FDA said Thursday it intends to regulate laboratory-developed tests (LDTs) that it deems as “high-risk” along the lines of Class III medical devices, positioning itself against academic medical centers and other developers of the tests, which have opposed efforts at imposing new rules. The agency formally told Congress it…

While the first traffic light flashed 18 years before the first car was built, the rules of the road have long lagged behind technology where genetic testing is concerned, especially in distinguishing functional gene variants from those that cause disease. That is starting to change as groups of researchers and…