News tagged with rare genetic disorders

Mapping the DNA sequence of Ashkenazi Jews

Led by Itsik Pe'er, associate professor of computer science at Columbia Engineering, a team of researchers has created a data resource that will improve genomic research in the Ashkenazi Jewish population ...

Sep 09, 2014
popularity 4.7 / 5 (10) | comments 0

Marijuana aids kids with seizures, worries doctors

The doctors were out of ideas to help 5-year-old Charlotte Figi. Suffering from a rare genetic disorder, she had as many as 300 grand mal seizures a week, used a wheelchair, went into repeated cardiac arrest ...

Feb 18, 2014
popularity 4.8 / 5 (6) | comments 6

Researching the roles of rare genetic variants in disease

As scientists work toward further personalizing medical treatment through genomics, heritability—the proportion of observed variation in a particular trait that can be attributed to inherited genetic factors—is key to ...

Nov 15, 2013
popularity not rated yet | comments 0 | with audio podcast