More on NMDA receptor variants + epilepsy/ID
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
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.
GRIN families join together for neuroscience
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
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 […]
Granulins treasure not trash – potential FTD treatment strategy
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
Social media complements and amplifies the diagnostic tool of whole exome sequencing
Personalized molecular medicine part 3
Q + A with doctors who treated the early-onset epilepsy patient who received individualized therapy