What’s new in genetics?

Here is what’s new in genetics since our last news roundup:

NIH puts a spotlight on genetics of disease

The NIH is funding a two-pronged plan to better understand the genetic basis of disease. With the launch of the Centers for Common Disease Genomics, $240 million will be dedicated to learning more about common diseases such as diabetes and heart disease. The Centers for Mendelian Genomics will focus on the genetics of rare diseases. Find a list of the centers involved in these programs, here.

Insight into a rare form of infertility

A rare form of infertility results when a woman’s eggs do not reach the stage where they can be fertilized by sperm. The egg cells’ growth halts during meiosis I, the first of two cell divisions that give rise to mature gametes. Researchers in China studied 24 women with this condition and found seven of them to have mutations in the same gene.

That’s interesting, so, what’s next? A finding like this could potentially lead to a genetic test which would screen women for these mutations in order to better guide fertility treatment plans.

Great strides in understanding schizophrenia

This groundbreaking study has shed light on an important link between a group of genes and schizophrenia, a disease which affects over 2 million people in the US. Scientists were lead to a set of genes, called C4 genes, involved in immune system function. The genes are also known to cue the pruning of cellular connections in the brain at the start of adolescence. This pruning is a critical process in the normal transition to adulthood.

Researchers found that mutations in these genes were highly common among individuals diagnosed with schizophrenia. Moreover, mice models engineered to have mutations in the C4 genes presented with a pruning that was more extensive than normal. The results of the study identify C4 mutations as posing a high genetic risk for schizophrenia and just how they present themselves in the body.

Possibly the most inspiring story of 2016

Jill Viles had an incredible drive as a teenager to understand the cause of her unique form of muscular dystrophy. After reading countless medical journals and reaching out to researchers on her own, Jill diagnosed herself with two rare genetic diseases. In her search for answers, she spearheaded the discovery of a gene mutation she shared with and olympic athlete. Read the story here!

This post is on news.recombine.com written by Stephany Foster, Science Writer and Community Coordinator at Recombine.