Angelman Syndrome is a rare genetic disorder caused by UBE3A gene mutations, leading to developmental delays, speech issues, seizures, and distinct behaviors like frequent laughter and hyperactivity.

“I’m beautiful, actually.” That community is composed of roughly two dozen people with Down syndrome across the globe who have graduated from two- or four-year colleges – like Handlin ...

The easiest way to find out, they say, is to conduct clinical trials on people for whom the onset of Alzheimer’s is nearly guaranteed: those with Down’s syndrome. As the life expectancy of ...

Scientists have found 697 genetic variants – or small changes within a gene – linked to depression, of which almost 300 were previously unknown. A Queensland scientist described the project as ...

Before graduating with her Master of Science in Genetic Counseling, Jessica Mather was able to publish a teen workbook to help the siblings of those who are affected by Angelman syndrome. This rare ...

Avery Worthington, Jessica Mather, Krista Hamel & McKenzie Bell Before graduating with her Master of Science in Genetic Counseling, Jessica Mather was able to publish a teen workbook to help the ...

Just before Immy's third birthday, the family finally received an answer: Angelman syndrome, a rare neurogenetic disorder causing global developmental delays. The diagnosis left them wondering if ...

To our knowledge, this is the first study to analyze and summarize the global research of genetic diagnosis and therapy of HHD by CiteSpace. Arrhythmogenic cardiomyopathy, hypertrophic cardiomyopathy, ...

Yes, genetics do appear to play a role in Crohn’s disease, though other environmental factors may also be involved. There’s evidence that Crohn’s disease occurs in families, with about 15 ...

Chromosomes are tightly coiled structures in each of your cells that contain DNA, the code for all life. DNA is organized in segments on chromosomes called genes. Humans typically have 46 ...