New research published in Molecular Neurodegeneration has revealed that mutations in three genes known to cause familial ...

we found that 23−24% carry pathogenic or likely pathogenic mutations,” says Pithukpakorn. In contrast, the rate of pathogenic mutations in Western populations is only about 10%. Of these ...

Voltage-gated calcium channels are associated with numerous diseases.  A new research group led by Nadine Ortner from the ...

Young-Onset Parkinson's Disease (YOPD) is on the rise in India. Genetic research is crucial for early diagnosis, offering ...

National Jewish Health researchers with the Advanced Diagnostic Laboratories have developed a molecular diagnostic test ...

Of these, PS1 mutations account for most eFAD, while APP and PS2 are more rare. Having a pathogenic mutation in one of these three genes virtually guarantees that one will develop early onset ...

Avian influenza has been rampaging in wild birds around the world since late 2021. It can be considered widespread in wild ...

Thyroid cancer-associated syndromes, including multiple endocrine neoplasia type 2, were significantly more prevalent than current estimates.

More information: María Ríos Carrasco et al, The Q226L mutation can convert a highly pathogenic H5 2.3.4.4e virus to bind human-type receptors, Proceedings of the National Academy of Sciences ...

Mitochondrial diseases affect approximately 1 in 5,000 people worldwide, causing debilitating symptoms ranging from muscle weakness to stroke-like episodes.