Standard laboratory tests can fail to detect many disease-causing DNA changes. Now, a novel 3D chromosome mapping method can ...

Motor neuron diseases, such as amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia (HSP), share physical ...

A University of Missouri-led discovery could pave the way for improved diagnosis and treatment of unexplained movement ...

You wouldn't know it watching Lilly Lou go through life with her independence, spirit, strong will, mobility, kindness, ...

A gene on the X chromosome revs up inflammation in the female brain, which may explain why rates of multiple sclerosis are ...

After Rachel Johnson’s daughter was diagnosed with PWS, she worried about what would happen during the candy-centered holiday ...

Scientists are starting to rethink mental health treatments, as new research reveals a surprising genetic connection between ...

Kammy’s Kause, an annual event now in its 20th year, continues to make a significant impact in the community, bringing together people for a cause that supports individuals with rare chromosome ...

BridgeBio Pharma said on Monday its experimental drug for a rare muscle disorder, which currently has no approved treatments, showed improvements in motor and lung function in a late-stage trial, ...

We are now in the second great wave of the genetic revolution, not defined by reading the human code of life, but by rewriting it.

Human embryos formed with in vitro fertilisation can develop genetic abnormalities in the time between genetic testing and ...