The Human Domainome 1—the largest library of human protein variants—reveals the cause of certain genetic disorders, paving the way for personalized medicines. “We measured every possible mutation in ...

Researchers have uncovered how specific DNA rearrangements called inverted triplications contribute to the development of various genetic diseases. The study reveals that during DNA repair, segments ...

Tel Aviv University researchers have made a remarkable discovery that could revolutionize our understanding of genetic mutations and their role in brain development. The study, published today in ...

Researchers at the Broad Institute and The Jackson Laboratory have used prime editing, a precise and versatile form of gene editing, to correct the root cause of AHC in mice. The team used a scalable ...

An Ice Age double burial in Italy has yielded a stunning genetic revelation. DNA from a mother and daughter who lived over 12,000 years ago shows that the younger had a rare inherited growth disorder, ...

Thousands of children with severe developmental disorders have benefited from more targeted treatments and support with genetic insights from the large-scale Deciphering Developmental Disorders (DDD) ...

Hypermobile Ehlers–Danlos syndrome (hEDS) is one of the most common heritable connective tissue disorders. Early estimates have reported that this genetic disorder affects at least one in 5,000 ...

Millions thrive at high altitudes due to remarkable genetic adaptations. Tibetans, for instance, possess a gene variant allowing efficient oxygen use without dangerously thick blood. Andeans and ...

An international collective of researchers is delivering new insights into why having multiple psychiatric disorders is the norm rather than the exception. In a study published today in the journal ...