rare diseases

New PCR-based approaches simplify molecular testing for health issues in infants, making diagnostic approaches simpler and more accessible across laboratories.

New PCR-based approaches simplify molecular testing for health issues in infants, making diagnostic approaches more accessible across laboratories.

Josephine Thinwa shares her journey to becoming a physician scientist and how this led her to investigate the role of a neurologically important kinase in virus-induced autophagy.

As a trailblazer in rare disease research and treatment, Wendy Chung captures the big picture of rare disease genetics with the help of next generation sequencing.

Rare genetic diseases are difficult to diagnose and characterize in the laboratory because of their heterogeneity and global scarcity.

George Church is at it again, this time using multiplex gene editing to create virus-proof cells, improve organ transplant success, and protect elephants.

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. 

Jukka Koskela shares how scientific discussion and mentorship motivate his research examining genetics and disease risk.

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

Understanding genetic mechanisms that alter cellular pathways.

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.