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Showing posts from February, 2017

Rare Disease Day 2017

Diagnosing diseases is a tricky business requiring a formidable breadth and depth of knowledge and the skill to apply that knowledge. Patient diagnosis becomes even more difficult for rare diseases: quality reference data may not exist and a physician might only see one such patient in her entire career. According to the National Institutes of Health, there are between 6,000 and 7,000 rare diseases affecting from 25 to 30 million Americans, making it likely that most, if not all, health care professionals have seen these patients in their practice but may not have known it. Oftentimes, a patient with a rare disease gets misdiagnosed as having a more common disease with a similar set of symptoms. In such cases, the misdiagnosis can lead to ineffective, or even harmful treatment; this is a danger even for patients who have rarer forms of a common disease.

Next Tuesday is Rare Disease Day, a day devoted to raising awareness of rare diseases, learning from the patients and families living…

What's in a (gene) name? That which we call a gene by any other name would confuse a researcher

If you had told me that I would spend my PhD years studying a gene called Falafel, I probably would not have believed you. Yet, that is exactly what happened to me (I was also briefly studying a gene called Bazooka). When working with fruit flies, researchers often come up with entertaining names for newly discovered genes; however, these same genes in mammals can be quite different. For instance, Falafel is called PP4r3 in humans. This discrepancy in gene names (also called gene symbols) can be confusing, and part of the Monarch mission is to ease cross-talk between interspecies genotype data. As a researcher, it can be hard to remember what a gene is called in different species, and this problem becomes more difficult if a gene name is changed. Thankfully, gene names are infrequently changed, and there are groups committed to ensuring that gene names are systematic and regulated. Recently, however, I was prompted to think of alternative names for MARCH7, a gene discovered by Monarc…