Sentences with phrase «identification of the gene causing»

In the course of this work, he has pioneered several new approaches in the fruit fly that have had important implications for mammalian neurobiology, including: the demonstration that the fruit fly has a sleep - like behavior similar to that of mammals, studies of physiological and behavioral consequences of mutations in a neurotransmitter system affecting one of the brain's principal chemical signals, studies making highly localized genetic alterations in the nervous system to alter behavior, and molecular identification of genes causing naturally occurring variation in behavior.

June 1, 2005 New Mutation Test for prcd PRA Is Now Available OptiGen, LLC, proudly announces identification of the gene causing canine prcd - PRA (progressive rod - cone degeneration form of Progressive Retinal Atrophy).

Not exact matches

The earlier discovery of mutations in UBQLN2 gene, which causes ALS and ALS / dementia in children and adults, in the Siddique lab led to the screening of the UBQLN family of genes in a large cohort of patients with familial ALS, resulting in the identification of the UBQLN4 mutation.

The March of Dimes Prematurity Research Center — Ohio Collaborative, launched in 2013, is responsible for the gene identification component of the network of five Prematurity Research Centers nationwide established by the March of Dimes to identify the unknown causes of preterm birth.

But the identification of the mutation also brought new questions for the researchers that caused them to dig deeper into the gene.

Targeted gene therapies, however, had to wait for (1) the identification of the genes to target, (2) the cloning and / or sequencing of the relevant genes and in some cases, the specific disease - causing variant, (3) a full understanding of the normal gene function and regulation, and (4) the development of efficient ways to deliver genes to the relevant tissues at therapeutic levels.

First, identification of new Alzheimer's disease genes will provide major clues as to its underlying cause.

«Identification of genes that contribute to Alzheimer's risk and that influence the progression of disease will help lead us to the cause of the disease, identify proteins and other new targets for drug development, and provide genetic methods for determining which people are at greatest risk for Alzheimer's disease when preventative measures become available,» said Dr. Schellenberg.

Linkage and candidate gene studies have been highly successful in the identification of genes that cause the monogenic variants of diabetes and, although progress in the more common forms of T2D has been slow, a number of genes have now been reproducibly associated with T2D risk in multiple studies.

He has been involved in the identification of genes altered to cause muscular dystrophy since his 1986 identification of dystrophin as the causative gene in Duchenne muscular dystrophy.

The immunoglobulin genes that code for antibodies are highly rearranged in the genome, causing missed identifications of antibodies in mass spectrometry searches.

In spite of these general expectations, the identification of individual genes causing reproductive isolation in nature has remained elusive for at least three reasons.

Thus, whole - exome sequencing allowed for direct identification of a disease - causing gene with just a few samples from affected individuals.

That caution was subsequently validated by additional research that completely excluded the Phosducin gene and led to identification of gene and mutation causing Type A PRA.

A successful collaboration between breeders and researchers resulted in the identification of the gene mutation that causes a crippling dwarfism in Miniature Poodles.

This led to the eventual identification of a single nucleotide substitution in the second codon of a previously unknown gene that is now known to be the cause of PRCD in at least 18 different breeds [23].

Identification of genes responsible for canine monogenic diseases (caused by one gene) is advancing rapidly, but the genes underlying behaviours remain elusive.