rare diseases

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.

Doctors treated the fetus, who has alpha thalassemia major, with cells from her mother’s bone marrow.

Biotechs have developed enzyme replacements and genetically modified probiotics to treat patients with the rare metabolic disorder.

As the first personalized cell and gene therapies are approved from small clinical trials, researchers propose the creation of publicly accessible databases to pull together real-world results.  

The devices, which could one day treat children with esophageal atresia and short bowel, were recently tested in pigs.

Researchers initially set out to investigate the relationship between copper homeostasis and the rare Menkes disease, but they also found links to Parkinson’s.

The Stanford University human geneticist identified the genes and genomic abnormalities underlying numerous rare diseases, including Rett  syndrome, and advanced the field of molecular diagnostics.