MODY 5 is a rare genetic diabetes subtype caused by HNF1B mutations or deletions, often presenting with early-onset diabetes and kidney, liver, or pancreatic abnormalities. Accurate genetic diagnosis ...

In a nutshell Researchers analyzed over 4,000 proteins in the cerebrospinal fluid of people with genetic forms of ...

A new study has revealed a set of proteins in the cerebrospinal fluid that could help identify frontotemporal dementia (FTD) ...

Typically, the goal of ALS treatments is to slow the disease or halt progression. But new data from the antisense oligonucleotide (ASO) jacifusen for FUS-ALS show that two patients went beyond the ...

The sperm of a man carrying a rare genetic mutation linked to cancer was used to conceive scores of children across Europe, ...

A new rapid blood test for newborns could potentially detect genetic mutations linked to thousands of rare diseases all at ...

Environmental factors such as lifestyle and the medications you take influence the effects your genes have on your body — and can clarify how diseases develop.

No one rule captures the full sweep of life’s ingenuity, yet SAI offers a fresh lens, suggesting that aging and fragility are ...

If it’s true, this work could have ramifications for some of the biggest mysteries of the universe, including learning where ...

A report found that the world's youngest Alzheimer's patient is actually a 19-year-old boy. He first started showing signs at ...

Researchers have used a personalised base-editing gene therapy to successfully treat an infant with carbamoyl-phosphate ...