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.
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The Search

Scotty Wentzell

Full speed ahead

Facing Dubowitz syndrome together, the Wentzell family doesn't let anything slow them down.

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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

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.

Cystic fibrosis

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.

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