Rare genetic disorders are typically caused by a variant in a single gene. It is estimated that there are over 7000 such conditions, meaning that although individually rare, they are collectively ...

A new CRISPR approach can control genes without cutting DNA, opening a safer path for treating genetic diseases. A newly ...

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.

Afflicting only a small fraction of the world’s population, rare genetic diseases stem from mutations within the genome. Because these chronic and heterogeneous conditions decrease quality of life and ...

A new "proteomic" blood test can accurately screen a newborn's DNA for thousands of rare, inherited diseases by analyzing just a single-milliliter sample, according to a study to be presented Monday.

That’s according to scientists from Newcastle University, who say the procedure prevents the transfer of mutated genes that could cause incurable and potentially fatal disorders. TURNBULL: "For ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

When a child inherits a genetic condition, it often means both parents unknowingly carried genetic variations that, when combined, led to the disease. Modern genetic testing now allows families to ...

The technical name of the disorder is hepatolenticular degeneration, a mouthful that has moved physicians to call it Wilson’s disease, after the doctor who first described it. But by any name it is ...

Please provide your email address to receive an email when new articles are posted on . Patients with inherited retinal diseases may present with seemingly routine conditions. Look for comorbid ...