Inherited eye diseases long believed to be inevitable for those with a certain mutated gene actually occur in just a minority of those cases, according to a recent study. Researchers made the ...

Scientists have identified thousands of genetic differences that change a person's risk of disease, but working out how they ...

As newborn screening and rapid DNA sequencing become routine, we are poised to catch and treat inherited diseases at their earliest stages. Today, we can intervene in the first days or weeks of life.

An international team of researchers has assembled one of the largest single-cell genetic atlases ever built, profiling more ...

Rare genetic diseases can go years, or even decades, without diagnosis. Standard testing often misdiagnoses these diseases, ...

A major analysis suggests Phelan-McDermid syndrome, a genetic disorder closely linked to autism, may affect about 1 in 7,300 ...

Researchers at Children's Hospital of Philadelphia (CHOP) have found that in rare instances, variants responsible for SYNGAP1-related disorders—a group of disorders characterized by developmental ...

A large genetic study shows that many people carry DNA sequences that slowly expand as they get older. Common genetic variants can dramatically alter how fast this expansion happens, sometimes ...

Certain rare genetic disorders may cause a child to develop obesity. Health experts may refer to these conditions as syndromic childhood obesity. They may affect a child’s metabolism or cause them to ...

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 ...

Falling sequencing costs, scalable NGS, robust patient registries and advanced bioinformatics enable higher test volumes, sharper diagnoses and personalized care.Dublin, Sept. (GLOBE NEWSWIRE) -- ...