Setara Biosciences, Inc. (Setara), a clinical-stage biotechnology company leveraging genetics to develop precision medicines ...

A notable study from the University of Exeter reveals that a significant number of people are genetically predisposed to ...

Brugada syndrome genetic testing identified six SCN5A variants in Malaysian patients, highlighting potential screening ...

Background Epilepsy is a heterogeneous neurological disorder characterized by recurrent, unprovoked seizures, with genetic factors playing a major role in its etiology, particularly in consanguineous ...

Myelodysplastic syndromes (MDS) are a group of disorders that typically arise in adulthood, especially after the age of 70, and their five-year survival rate is around 30%. MDS are characterized by ...

The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example by means of exome sequencing (ES), leading to a molecular genetic ...

A case report describes a 14-year-old girl with ring chromosome 7 syndrome whose severe hypertriglyceridemia and mild ...

In a landmark discovery, researchers from the University of Antioquia have identified a new genetic syndrome that bridges the gap between neurodevelopmental disorders and neurodegenerative diseases.

Children with rare genetic disorders often face years of uncertainty before receiving a diagnosis, leaving families without clear information about disease progression, treatment options, prognosis, ...

Have you ever seen the item "PLT" on a health checkup or hospital blood test?PLT stands for Platelet, a component of blood ...