genetic disease

Primary HLH is a rare, rapidly progressive, and fatal disorder with a median survival of less than 2 months.

Arginase 1 Deficiency is an inherited, metabolic disease that is both debilitating and progressive, leading to significant morbidity and early mortality.

We're learning about Pompe disease, a rare neuromuscular disorder affecting the hips, thighs, and shoulders, as well as muscles in the lungs.

Duchenne muscular dystrophy is the most common fatal genetic condition diagnosed in childhood. The condition primarily affects boys, and about 1 in 3,500 boys are born with Duchenne each year.

Your body is a walking miracle.  At any given time, at the cellular level, your body is fighting a very real war – a war against infections, bacteria and unwanted microorganisms.  But what if you are an unknown carrier of a genetic disorder that disables certain white blood cells, called phagocytes, from responding properly?  These […]

Cystinosis is a rare, genetic metabolic disease that causes the amino acid cystine to accumulate in various organs of the body. Cystine crystals accumulate in the kidneys, eyes, liver, muscles, pancreas, brain, and white blood cells.  Without specific treatment, children with cystinosis develop end stage kidney failure at approximately age nine.