Policy & LawPublic HealthSpecialties

Geolocating a Cure for a Rare Disease

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rare disease communitiesU.S.  Senator Tom Udall of New Mexico has introduced a bill that could be a bellwether for rare disease communities.

rare disease communitiesU.S.  Senator Tom Udall of New Mexico has introduced a bill that could be a bellwether for rare disease communities.

The bill, proposed by New Mexico’s congressional delegation, is designed to support research on cerebral cavernous malformation (CCM), a genetic disease caused by abnormal blood vessels that form clusters (angiomas) in the brain, resulting in seizure, stroke and death.

Why is this disease so important to lawmakers in New Mexico?  It turns out that the disease was common among Spanish settlers in this state in the 1580′s and has been passed down through generations of Hispanic New Mexicans.  The state has the highest population density of the illness in the U.S.  There has been little research on CCM and the bill is designed to remedy that.

Rare Disease and the Founder Effect

The situation is not unique in the world of rare disorders. Genetic disorders sometimes occur in  geographic clusters among groups with a common ancestry. Take familial hypercholesterolemia (FH), for example, a disease which is 2 to 5 times more common among Ashkenazi Jews around the world.

This group, originally from Poland and Lithuania, formed tight-knit communities to survive oppression and disease outbreaks during the middle ages.  Living in small groups in close proximity for several generations increases the risk of genetic disorders, a pattern known as “The Founder Effect.”  Along with FH, Ashkenazi Jews have a greater risk for Tay-Sachs and Gaucher disease.

Alliances that Work

What is worth noting about the bill sponsored by lawmakers from New Mexico is the model it provides for effective collaboration among stakeholders with a common interest in understanding and treating a rare disorder.  The Cavernous Angioma Research and Treatment Act is being supported by the University of New Mexico, the Angioma Alliance Scientific Advisory Board and CCM3 Action, a support group for people with the disorder.  If passed, the bill will improve healthcare access throughout the state, help underserved communities, and improve communication among medical centers, doctors, and researchers who hope to prevent brain bleeds caused by CCM.

In short, although it may have a particular geographic focus, it is still the kind of alliance that all rare diseases are striving for. One that will be good for all.

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