Scientists Discovered That Two Genetic ‘Wrongs’ Could Make a Genetic ‘Right’

When two defective gene variants combine, normal protein function can sometimes be restored.

Rare genetic form of diabetes detected in newborn babies for first time

A rare form of diabetes affecting newborn babies and caused by a genetic disorder has been discovered by scientists in the UK ...
Medscape

Empagliflozin Benefits Patients With Rare Genetic Diabetes

As an adjunctive treatment, empagliflozin improves glycaemic control in patients with HNF1A-related maturity-onset diabetes ...
The Economist

Treatment of a teenager with an ultra-rare condition is a medical milestone

Ultra-rare disorders are those affecting fewer than one person in 50,000. Sometimes, indeed, they are unique. And unique ...

New drug approach targets stress response in rare brain disorder PMD

A Northwestern Medicine study has uncovered a promising new therapeutic approach for a rare genetic brain disorder, according ...
Rolling Out

The rare genetic mutation that prevents wrinkles

Meet the luckiest people on Earth — individuals carrying a rare genetic mutation that prevents wrinkles from forming even as they age well into their 80s. These genetic lottery winners have provided ...

What is SMA? The rare genetic condition that Jesy Nelson’s twins have

What is SMA? The rare genetic condition that Jesy Nelson’s twins have - Former Little Mix star revealed her twin daughters had been diagnosed with Spinal Muscular Atrophy (SMA) Type 1 ...