Collagen type III glomerulopathy (Col3GP) is a rare renal disease characterized by massive glomerular accumulations of collagen type III. The disease occurs in both humans and animals, and has been ...

Juvenile-onset spinal muscular atrophy was observed in an extended family of purebred domestic cats as a fully penetrant, simple autosomal recessive trait. Affected kittens exhibited tremor, proximal ...

Some health problems are passed down through families. There are different ways this can happen. To have a child born with what’s called an “autosomal recessive disease” like sickle cell disease or ...

Diseases or health problems are not only transferred through infections and inflammation, but also through your genes. There are some disorders that you already have it in your genes and you get it ...

Autosomal inheritance is when a parent passes down a condition to a child via autosomes, a type of chromosome. In autosomal inheritance, a copy of a faulty gene from one parent can cause a condition ...

Researchers assessed the role of recessive genetic variants in developmental disorders, suggesting reanalysis of genetic data could improve understanding and diagnosis of conditions for millions of ...

In a recent study published in the Journal of Experimental Medicine, researchers identified that individuals with a deficiency of myeloid differentiation primary response 88 (MyD88) and interleukin-1 ...

Dichromatism was discovered in a wild population of Onychomys leucogaster utahensis in western Utah. Breeding tests between the pale or normal phase and the dark or melanistic phase determined that ...

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 ...

A study has been undertaken of a large number of persons among eight generations of seven highly inter-mated families residing in the Dominican Republic. Data have been obtained to indicate that ...

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 ...