Autor: Clinical genetics

The rise in the number of cases of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) always gets quite a bit of attention from both the public and the media. This has led to the rise of several misinformed theories abou…

Variants in the DHDDS gene cause a severe neurodegenerative condition, characterized by tremors, seizures, coordination and learning difficulties, usually manifesting in early childhood. This Parkinson’s-like condition is extremely rare, and until rece…

New research to be presented today at the annual conference of the European Society of Human Genetics shows that a cancer patient’s genetic ancestry can have a significant effect both on how their disease progresses and their survival. In the largest s…

Oral corticosteroids (OCSs) are widely used and effective in the treatment of chronic inflammatory conditions such as arthritis, asthma and autoimmune diseases. They work by reducing inflammation, relieving pain and calming the immune system. However, …

A new test provides a much more complete picture of DNA than current standard diagnostics and leads to a diagnosis more often. The test can replace 15 other tests, making it faster and more efficient. Researchers from Radboud university medical center …

While noninvasive prenatal testing (NIPT) has revolutionized prenatal diagnostics by allowing the detection of a number of genetic problems in a fetus, it is currently limited and thus misses many genetic causes of abnormalities. But a new technique, t…

Though protein clumps associated with Alzheimer’s and Parkinson’s were discovered more than a century ago, researchers remain largely unable to prevent them from forming or eliminate them from the brain. And though a variety of therapies have taken aim…

A signaling system known as the Wnt pathway plays a central role in how cells in the intestine grow, divide and renew themselves. Decades of research have shown that disruption of this pathway is a defining feature of many intestinal cancers. In partic…

For years, it has been known that mutations in both copies of the HERC2 gene are associated with a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, features of the autism spectrum and movement disorders—…

A new treatment platform developed by researchers at the University of Texas MD Anderson Cancer Center was able to deliver messenger RNA (mRNA) of the full-length DMD gene into preclinical models of Duchenne muscular dystrophy, successfully restoring t…