that was fun writing that title. A recent correspondence in Nature Genetics outlined some changes in the HuGE Navigator. This database has been available in some form since 2001. The basic purpose of the database is to…
navigate and mine the growing scientific literature on human gene-disease associations and related data in human genome epidemiology. As an interconnected system of applications that users can enter by using genes, diseases, or risk factors as the starting point, HuGE Navigator provides a potential bridge between epidemiologic and genetic research domains.
I didn’t expect to be doing another blog post today, but I found this story so compelling that I put off some other work to track this down. New Gene Nailed for ALS. (subscription required) My Science newsletter today had a link to a story about a new gene found that may be mutated in some cases of ALS, amyotrophic laterial sclerosis, or Lou Gehrig’s disease: This article describes the phenotype and the gene hunt a bit. It links to the research article in today’s Science as well.
From the abstract:
We identified neighbouring mutations in a highly conserved region of TARDBP in sporadic and familial ALS cases. TARDBPM337V segregated with disease within one kindred and a genome-wide scan confirmed that linkage was restricted to chromosome 1p36, which contains the TARDBP locus. Mutant forms of TDP-43 fragmented more readily than wild-type in vitro and caused neural apoptosis and developmental delay in the chick embryo in vivo. Our evidence suggests a pathophysiological link between TDP-43 and ALS.
There was a Boston Globe story about a couple of brothers in my area who were struggling with this disease. One brother had ALS and was fighting to survive, the other was fighting like crazy to find help his brother and find a cure. They did a movie that was shown on PBS, some of you may have seen it.
What would you do if you were 29 years old and found out that you only had a few years to live? The story of the remarkable events set in motion when one family confronted a disease that would transform their lives.
A subsequent story in the Globe reported that Stephen died.