KCTD13 a Driver of Neurodevelopmental Phenotypes Associated with the 16p11.2 CNV
Golzio, Willer et al., Nature
An international team led by investigators at Duke University shows that KCTD13 "is a major driver for the neurodevelopmental phenotypes associated with the 16p11.2 CNV [copy-number variant]," a finding that it says substantiates "the idea that one or a small number of transcripts within a CNV can underpin clinical phenotypes, and offer an efficient route to identifying dosage-sensitive loci."
The Tip of the Legal Iceberg, Folks
May 14, 2009
Here's a lawsuit raising interesting questions in the field of personal genomics. Kamel at BayBlab talks about the case of a girl born with Fragile X syndrome who "is suing a sperm bank after genetic tests showed the genetic condition was carried on the father's X chromosome," he writes. "In this age of personal genomes and genetic testing, how much responsibility does a sperm bank have to screen for genetic disorders with every available test?" The outcome of the case will likely have direct legal consequences as genetic screening becomes more and more commonplace, he adds.
Ironic...if they would have
Ironic...if they would have screened for fragile X she wouldn't have been born to sue them...