New approach to diagnosing genetic diseases using RNA sequencing increases yield
Researchers find that starting genetic analysis with RNA sequencing can increase diagnostic yield and confidence in diagnosis.
Read more
undiagnosed diseases
New undiagnosed disease linked to variants of WDR37 gene
A new undiagnosed neurological syndrome that is characterized by brain malformations and a range of symptoms including visual impairment, epilepsy, developmental delays and intellectual disability
Read more
To better serve patients, Baylor researchers pioneer and improve reanalysis of clinical molecular data
Many physicians and scientists think that the molecular diagnostic rate of undiagnosed diseases has room for improvement. Inspired by this need, a team at Baylor
Read more
Fruit flies: ‘living test tubes’ to rapidly screen potential disease-causing human genes
It all began with one young patient; a 7-year old boy who was born without a thymus, an important organ of the immune system, and
Read more
Collaboration matters when looking for answers to undiagnosed diseases
It used to be that identifying genes involved in a particular disease was like finding a needle in a haystack. Nowadays, scientists still have to
Read more