Retinitis pigmentosa (RP) is an eye condition that can be genetic. In this way, people usually need to inherit two copies of a genetic variation that causes RP, one coming from each parent. RP may ...

Von Willebrand disease (VWD) is a bleeding disorder in which the blood does not clot as it should. Usually, people have VWD due to their genes, which may come from a male or female parent. Blood ...

Researchers have conducted what they say is the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders. The team, headed by researchers at the ...

Genetic variants underlying life-threatening diseases, being unlikely to be transmitted to the next generation, are gradually and selectively eliminated from the population through negative selection.

As a group, carriers of recessive disorders are slightly less healthy and have a reduced chance of having offspring. This disadvantage is greatest for carriers of a recessive gene for intellectual ...

A team led by University of Pittsburgh School of Public Health geneticists has shown, for the first time, that a gene "silencer" that resides in junk DNA is directly sparing people from a devastating ...

Most common forms of strabismus tend to run in families. But the genetics of strabismus are complex, so it’s not always simple to predict whether a child will inherit the condition. Strabismus is a ...

PKD is mainly caused by mutations in the PKD1 and PKD2 genes, affecting polycystin proteins. Disrupted signaling pathways, like cAMP and vasopressin, are major drivers of cyst growth. Tolvaptan is ...