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Genetic research unveils common origins for distinct clinical diagnoses
Date:3/9/2008

Researchers at Johns Hopkins have discovered that two clinically different inherited syndromes are in fact variations of the same disorder. Reporting in the April issue of Nature Genetics, the team suggests that at least for this class of disorders, the total number and strength of genetic alterations an individual carries throughout the genome can generate a range of symptoms wide enough to appear like different conditions.

Were finally beginning to blur the boundaries encompassing some of these diseases by showing that they share the same molecular underpinnings, says Nicholas Katsanis, Ph.D., an associate professor of ophthalmology at the McKusick-Nathans Institute of Genetic Medicine at Hopkins. This is important progress for several reasons. First, knowing whats going on molecularly and being able to integrate rarer conditions under common mechanisms allows us to potentially help more people at once. Second, clinicians can finally begin to offer more accurate diagnoses based on what really matters: the state of affairs at the cellular/biochemical level. In time, this will empower genetic counseling and much improved patient management.

Katsaniss team studies Bardet-Biedl syndrome (BBS), a rare so-called ciliopathy that is characterized by a combination of vision loss, obesity, diabetes, extra digits and mental defects and caused by faulty cilia, tiny hairlike projections found on almost every cell of the body. Recently they started looking at another disease, Meckel-Gruber syndrome (MKS), which also shows cilia dysfunction but is clinically distinct from BBS and generally associated with prenatal or newborn death.

While these two groups of patients exhibit such different clinical outcomes, the genes associated with both syndromes all seemed to be pointing at the same culprit: cilia, says Katsanis. So we wondered if BBS and MKS might actually represent different flavors of the same disease.

The researchers sequenced th
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Contact: Audrey Huang
audrey@jhmi.edu
410-614-5105
Johns Hopkins Medical Institutions
Source:Eurekalert

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