A new study published in Nature in the paper, “Developmental convergence and divergence in human stem cell models of autism,” provides new insights by demonstrating that while different mutations ...

UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism ...

Gene-editing tools like CRISPR have unlocked new treatments for previously uncurable diseases. Now, researchers at the ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. A team led by scientists at the German research ...

Using cortical organoids from individuals with autism, researchers tracked gene activity over development. Early ...

Thousands of previously “invisible” microproteins—tiny chains of fewer than 100 amino acids—can profoundly change human biology when mutated. A fundamental discovery is overturning decades of ...

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive neurological disease with an average age of onset at 43 years and an average life expectancy of only ...

Certain rare gene mutations can contribute significantly to low levels of a beneficial form of cholesterol in the blood, researchers have found. Low levels of this cholesterol, known as high-density ...

Researchers have discovered new regions of the human genome particularly vulnerable to mutations. These altered stretches of DNA can be passed down to future generations and are important for how we ...

A genetic mutation found in two human patients with schizophrenia also increased schizophrenia-related behaviors in mice with the same mutation, a rare finding of a direct genetic link to psychosis, ...

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 ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. The findings raise the possibility that similar ...