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 ...

Marriage brings along with it a new beginning, a dream and promise of a new family. While most couples prepare extensively ...

We identified a large family segregating an uncomplicated and early onset form of HSP. Exome sequencing revealed homozygosity for a novel ATL1 missense variant in the six affected family members, ...

Hemophilia is a bleeding disorder that can affect the blood’s ability to clot properly. In most cases, people inherit the gene variations for hemophilia in an X-linked recessive inheritance pattern.

Terms like "autosomal recessive" and "dominant" are frequently tossed around, and you've probably heard them. But what does any of that really mean regarding the traits that children inherit from ...

Retinitis pigmentosa is one of the commonest forms of inherited retina degenerative blindness worldwide. With the advent of molecular technologies it has become easier to identify the genetic defects ...

Genes are located on chromosomes. Chromosomes are in pairs and genes, or their alleles, are located on each of these pairs. When the cell divides in half, each chromosome ends up in a different cell.