Rare diseases affect 300 million globally, posing diagnostic challenges due to limited awareness and complex genetic factors. Addressing these gaps is crucial.

A seminal study has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). The discovery offers both closure and hope to potentially thousands of families worldwide who have long been ...

Valley parents are racing to find a treatment for their son's progressive genetic disorder that will eventually lead to him ...

Me has filed for bankruptcy as is seeking buyers. Here's what could happen to the company's DNA database, one of the largest ...

The genome database will open up the possibility of personalised medicine, and faster and efficient diagnostics. It will also ...

With 80% of rare diseases having a genetic cause, getting a head start on genetic testing for infants can be the key to an ...

A landmark review in Nature Reviews Genetics dissects the rare and common genetic variants that shape human height. The paper ...

As many as one in 3,000 people could be carrying a faulty gene that significantly increases their risk of a punctured lung, ...

Given their life-saving potential, newborn screenings should not be seen as optional but as a fundamental part of postnatal ...

Applications range from precision medicine and resilient agriculture to biosensors for national security and biobased ...

A new pan-European network will integrate long-read sequencing into clinical practice, improving diagnosis of rare diseases ...

Liver disease is a broad term that can describe any issue that damages the liver and affects its function. Possible causes include infections, genetic conditions, autoimmune disorders, and cancer.