Researchers characterize large mitochondrial deletions to understand their implications in neurological disorders.

Learn about the underlying causes and mechanisms behind liver pathophysiology.

Two new medications for treating a rare and deadly neuromuscular disease have high prices and questionable efficacies, say scientists.

Trophoblasts, collected from the mother during a blood draw, can determine fetal genetic abnormalities currently diagnosed through amniocentesis or chorionic villi sampling.

Despite a solid understanding of the biological basis of fragile X syndrome, researchers have struggled to develop effective treatments.

Variation in the number of CGG repeats in the FMR1 gene at the bottom of the X chromosome can lead to increased levels of mRNA or decreased levels of protein—both conditions that cause disease.

Robert Guthrie’s blood test for the metabolic disorder phenylketonuria launched a worldwide movement to screen every baby for the disease soon after birth.

Researchers report they’ve found a way to restore immune function in infants with one form of “bubble boy disease.”

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.

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

The UK-based organization encourages public debate about the issue but does not recommend immediate policy change.

Researchers stumbled across the connection while searching for ways to reduce vision problems in people with achromatopsia.

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. 

Clinical analyses of patients’ gene sequences are helping to provide answers where none were available before.

The disorder, called X-linked hypohidrotic ectodermal dysplasia, leaves patients unable to produce sweat, which can be life-threatening.

The 44-year-old patient has Hunter syndrome, which doctors hope to treat using zinc finger nucleases.