A group of 20 patients with undiagnosed neurodevelopmental disorders ranging from severe to mild has now received a genetic diagnosis thanks to an international team of researchers at the GREGoR ...

The human genome is organised in 46 chromosomes, where all but the x and y chromosomes in men are present in two copies. This means that a person with a faulty gene on one chromosome most often has a ...

Researchers report that they have identified genetic variants that determine the shape of human teeth, including a gene inherited from Neanderthals. The scientists published their paper “PITX2 ...

Twenty years ago last month, scientists sequenced the first human genome in the landmark Human Genome Project. Among the many things they discovered was that while any two humans have 99.6 percent of ...

Duchenne muscular dystrophy (DMD) is a genetic condition that causes progressive muscle weakness and wasting. It is an X-linked recessive disorder that occurs due to changes in the DMD gene, which ...

For two decades, scientists have been comparing every person’s full set of DNA they study to a template that relies mostly on genetic material from one man affectionately known as “the guy from ...