such as various translocations between the Y chromosome and acrocentric chromosomes, are found to have no clinical consequence, whereas those that involve euchromatic regions are more likely to ...

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 ...