Search Results for: rare variants

More on NMDA receptor variants + epilepsy/ID

January 31st, 2017 (No Comments)

NMDA receptors are complex electrochemical machines, important for signaling between brain cells. These guys figure out how they work.

A shift in how geneticists study complex diseases

September 4th, 2009 (No Comments)

An Emory project studying schizophrenia genetics is a good example of how geneticists are shifting from examining small, common mutations to “rare variants” when studying complex diseases.

Traynelis lead researcher on CureGRIN/Chan Zuckerberg award

February 19th, 2020 (No Comments)

The CureGRIN Foundation works closely with Emory pharmacologist Stephen Traynelis, who has been investigating rare genetic disorders affecting NMDA receptors.

GRIN families join together for neuroscience

September 30th, 2019 (No Comments)

Editor’s note: This post was a collaboration with MMG graduate student Megan Hockman. They were brought together by their children’s epilepsies, and by rapid advances in genetic sequencing. Only a few years ago, these families would have been isolated, left to deal with their children’s seizures and neurological problems on their own. Now, they’ve organized […]

DNA copying problems explain muscular dystrophy mutations

December 1st, 2011 (No Comments)

Geneticist Madhuri Hegde and her colleagues have a paper in the journal Genome Researchthat addresses the question: where do copy number variations come from? Copy number variations (CNVs), which are deletions or duplications of small parts of the genome, have been the subject of genetic research for a long time. But only in the last […]

First (and massive) whole-genome study of IBD in African Americans

February 18th, 2021 (No Comments)

In African Americans, the genetic risk landscape for inflammatory bowel disease (IBD) is very different from that of people with European ancestry, according to results of the first whole-genome study of IBD in African Americans. The authors say that future clinical research on IBD needs to take ancestry into account. Findings of the multi-center study, […]

‘Genetic doppelgangers:’ Emory research provides insight into two neurological puzzles

May 5th, 2020 (No Comments)

An international team led by Emory scientists has gained insight into the pathological mechanisms behind two devastating neurodegenerative diseases. The scientists compared the most common inherited form of amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD) with a rarer disease called spinocerebellar ataxia type 36 (SCA 36). Both of the diseases are caused by abnormally expanded […]

Granulins treasure not trash – potential FTD treatment strategy

August 15th, 2017 (No Comments)

Granulins are of interest to neuroscientists because mutations in the granulin gene cause frontotemporal dementia (FTD). However, the functions of granulins were previously unclear.

Next-generation sequencing, amplified by social media

April 2nd, 2014 (No Comments)

Social media complements and amplifies the diagnostic tool of whole exome sequencing

Personalized molecular medicine part 3

March 4th, 2014 (1 Comment)

Q + A with doctors who treated the early-onset epilepsy patient who received individualized therapy