Rare and orphan diseases
Rare and Orphan Disease Center
Our team works with foundations and scientists from around the world to facilitate research into treatments of these less common diseases.
Full speed ahead
Facing Dubowitz syndrome together, the Wentzell family doesn't let anything slow them down.
Not all genetic mutations cause disease.
Then again, some seemingly minor genetic anomalies can have catastrophic consequences. Some of the “simplest” of genetic diseases—with known defects in a single gene—are still incurable. And fatal.
The goal for researchers is to find prevention and cures. They also learn a lot about how our bodies operate along the way. Research into specific rare diseases yields insights such as why certain proteins have an unexpected system-wide importance and how wrongly assembled proteins can be worse than none at all.
Below is a small sample of the diseases the scientists in our Rare and Orphan Disease Center are investigating today.
Alström syndrome is a rare disease caused by a mutation in a single gene, ALMS1, which was identified through work at the Laboratory. Patients have a variety of disorders, including vision and hearing loss, obesity, type 2 diabetes, cardiovascular problems and more.
Patients with cystic fibrosis have a single mutated gene that produces a defective protein, CFTR. There are many variations in the mutations, and the severity of the disease varies. Identifying how the genetic variability influences disease progression is a key to developing better therapies.
SMARD is a life-threatening motor neuron disorder commonly seen within the first six months of life. Because SMARD undermines voluntary muscle function, infants who inherited a defective gene from both parents may be unable to lift their heads or may have other mobility limitations. Children with the disorder stop breathing due to a paralyzed diaphragm and often die in their sleep. As a result, many SMARD never see their first birthdays.