rare diseases

Researchers discover new idiopathic pulmonary fibrosis risk factors with multi-ancestry analyses that increase representation of understudied populations.

Beyond his achievements in academia, he also cofounded three pharmaceutical companies and filed 15 patents related to cancer therapeutics. 

Genetic variants that reduce the editing levels of double-stranded RNA are associated with autoimmune and immune-mediated conditions, a study finds.

The University of Washington researcher leveraged data from the Human Genome Project to identify genes underlying various health conditions and advance precision medicine.

In just 16 months, physicians went from identifying a novel rare disease in three-year-old Marley to successfully treating her with a drug previously used to treat African sleeping sickness and pediatric cancer.

Loss of the protein ATG7 is fatal in mice, but not always for people—although it is linked to human neurodevelopmental disorders, researchers report.

Many major biopharmaceutical companies are developing or acquiring drugs that target the NLRP3 inflammasome, a large intracellular complex that researchers say can spark inflammation and stoke diseases of lifestyle and aging.

A review of 36 individuals’ sequencing results performed by three US labs finds thousands of genes that were never fully sequenced to industry standards.

The animals lived longer and showed milder symptoms than untreated mice, although they didn’t survive as long as wildtype mice.

Meet some of the people featured in the September 2019 issue of The Scientist.

A number of rare diseases show unique epigenetic patterns across the genome, a feature researchers have now exploited to build a diagnostic tool.

Deep-learning algorithms could help doctors narrow in on the causes of certain medical conditions, say researchers.

Geneticist and profilee Hoda Zoghbi describes her work on rare diseases.

The genetically engineered probiotic, already in clinical trials, may ease patients’ strict dietary regimes.

The medicine increases the activity of a deficient enzyme in certain patients with the condition.

Alnylam’s patisiran interferes with the production of a mutated protein present in people with hereditary transthyretin amyloidosis.

Preliminary data from Sarepta Therapeutics has exceeded expectations, causing a surge in company stock prices this week.