Genetic Mutation

Lamzede helps break down oligosaccharides and prevents their accumulation in patients with this rare disease

An artificial neural network was trained to spot tiny mutations in genetic sequences better and faster than human eyes

Study is one of the first to associate long COVID symptoms with changes in gene expression during acute COVID-19

Researchers have employed human-induced pluripotent stem cells to examine mechanisms that relate to ALS

Rutgers-led study highlights potential of new techniques to study mental disorders

Researchers have developed a simple urine test to measure the severity of cystic fibrosis and assess new treatments

Study may help lead to gene therapy for rare inherited blinding disease

Results suggest that targeted inhibition of certain NFKB signaling pathway components is an viable therapeutic approach

Researchers hope that this work helps improve the targeting of assessments and interventions

The condition, so new it doesn't have a name yet, causes learning difficulties in patients