Sentences with phrase «disease genes»

Line - breeding is not the cause of inherited disease, it simply increases the expression of disease genes by bringing them together.

It should now be obvious to most that publication of novel disease genes in top - tier journals requires more than just genetic or genomic data.

In particular, the comparison of gene sequences in large numbers of patients and controls will be a key step in strategies for disease gene identification.

The aim is to create the most detailed catalog yet of human genetic diversity to help biomedical researchers home in on disease genes.

Researchers have identified a novel disease gene in which mutations cause rare but devastating genetic diseases known as mitochondrial disorders.

Functional validation of a candidate disease gene can also be performed in living cells or organisms.

Once that goes public, which should occur in the next few weeks, finding disease genes in dogs will be even easier.

If followed by all breeders, these strategies will ensure a significant reduction in the frequency of the targeted disease gene in future generations of dogs.

Because many diseases are exceedingly rare, it is unlikely that one investigator will be able to collect a sufficient number of patient samples to reliably pinpoint disease genes.

Now a new tool may provide researchers with a better way to pinpoint possible disease genes on a given chromosome — by reading DNA letter - by - letter.

If the particular disease gene is common in the breed and it is a close line breeding, the answer is «very likely».

The new catalog could help disease gene hunters in several ways.

Although some of the symptoms varied between individuals, the results identified mutations in the same disease gene.

Several researchers worldwide are trying to delete disease genes for therapeutic reasons.

Usually disease genes are discovered by first collecting blood from large families with many members, spread over several generations, who suffer from a disease.

As a result, the country has long drawn Western scientists eager to bag disease genes new to science.

By targeting the protein made by a major disease gene, we are in a position to manipulate the key biological pathway involved in the disease.

Regardless, the genetic status of such dogs was and remains constant during their lifetime, so these dogs can pass the mutant disease gene to their offspring.

Two sharply different sorts of disease genes are at work.

The primary motivation was to speed the hunt for disease genes and for new drugs to counter them.

While mutations in more than 100 genes have been linked to mitochondrial diseases, the new discovery adds another novel disease gene to the list.

For the first time, researchers have used whole - genome sequencing to track down disease genes in people who have rare inherited disorders.

This week's headlines include: GSK slims portfolio with sale of rare disease gene therapy drugs, The Focus Shifts in Alzheimer's Research, Healing process after breast cancer surgery may trigger...

They are instructions for permanently removing a recessive disease gene from any population of dogs without removing a single dog from a breeding program.

This week's headlines include: GSK slims portfolio with sale of rare disease gene therapy drugs, The...

But despite these advances, the overall success rate for human Mendelian disease gene discovery by whole - exome sequencing is slightly less than 50 percent.

In the example of labradoodles, the dogs can carry disease genes for both poodles and Labradors, meaning both sets of diseases could show up in the next generation.

As much as 60 percent of the 289 known human disease genes have counterparts in Drosophila.

In June, I highlighted some of the latest additions to the catalogue of known retinal disease genes, also known as RetNet.

An interesting corollary here is that around 14 % of diagnoses involved an autosomal dominant disease gene with a variant inherited from a parent.

As the authors hoped, GERP scores were significantly higher for included versus excluded variants, particularly for the severe recessive disease genes screened for in newborns.

Furthermore, whole - genome sequencing enables comprehensive genetic testing — from SNVs in known disease genes to large cytogenetic abnormalities — in a single assay.

Researchers have long believed that the Huntington's disease gene causes problems by telling cells to make a harmful protein.

Some of the first high - profile disease gene studies therefore used dbSNP as a filter.

Standardized phenotyping enhances Mendelian disease gene identification.

Asst Prof Li, from the Neural Stem Cells Laboratory at NNI, added, «This important study suggests a link between a key neurological disease gene and regulation of microRNAs in the brain.

There were far too many disease gene discovery papers than I could ever hope to cover on MassGenomics, so I admit to playing favorites.

Then, using more lab tricks, scientists can re-introduce their home - grown version of the Huntington's disease gene into mouse cells and grow new mice that have it in every cell of their body.

For instance, if several relatives suffer from depression, researchers can sort through their DNA hoping to find regions they all share — in higher proportions than would be expected given their relatedness — where a variant disease gene might lie.

«Rare respiratory disease gene carriers actually have increased lung function.»

«There are also other disease genes that lead to the pigmentation disorder,» says Betz.

Interestingly, two familial Parkinson's disease genes also are linked to mitochondrial removal.»

His research focuses on gene mapping, gene modification, and cloning disease genes.

Although hundreds of thousands of samples have been sequenced, our ability to find, associate, and implicate genetic variants and candidate disease genes far outstrips our ability to understand them.

However, most disease genes discovered in the past decade indicate only an elevated risk, not a certainty, of developing the disorders with which they are associated, including cancer, diabetes, and heart disease.