Researchers identified biallelic variants in RNU2-2 as the cause of a recessive neurodevelopmental disorder marked by ...

Researchers have demonstrated a new class of low-cost, scalable sensors that can be used to monitor electrical activity in ...

Rare Chromosome Awareness Day, celebrated in June, is an opportunity to increase public knowledge about rare chromosome and gene disorders. These conditions can lead to various physical, developmental ...

Human egg cells are often prone to chromosomal errors. As women age, the error rate increases sharply — and can contribute to infertility, pregnancy loss, and ...

Rare genetic disorders are typically caused by a variant in a single gene. It is estimated that there are over 7000 such conditions, meaning that although individually rare, they are collectively ...

Genetic risk in mental illness is not equal, with some disorders highly distinct and others sharing broad inherited vulnerability.

Psychiatric disorders, such as bipolar disorder (BD), major depressive disorder (MDD), schizophrenia and anxiety disorders, ...

A sweeping genomic analysis reveals how psychiatric disorders cluster into five biological families, exposing shared pathways and pinpointing where their genetic roots diverge. Study: Mapping the ...

Scientists at UT Southwestern Medical Center have traced a rare premature aging condition in a young Malaysian man to a ...

Kammy’s Kause, an annual event now in its 20th year, continues to make a significant impact in the community, bringing together people for a cause that supports individuals with rare chromosome ...

Doctors warn cousin marriages raise birth defect risk 2-2.5x due to shared recessive genes; genetic counselling can help reduce risks.