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.
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