In the October issue of the journal we published an editorial on the possibility of a medical sequencing program at the NHGRI that would be aimed at speeding the identification of genes underlying mendelian forms of disease in humans. Recently, the NHGRI issued a press release announcing the approval of such a program by the National Advisory Council for Human Genome Research. At first glance, the plans seem even more ambitious than was initially suggested.

As expected, part of the program will be an effort to sequence large intervals that harbor mutations underlying rare, autosomal mendelian disorders. A pilot project is to begin next year, and will target familial forms of atrial fibrillation, aortic aneurysms, and other heart disorders, as well as four other rare disorders, including Joubert syndrome. This last disease, which affects the brain and overall physical development, has been the subject of one recent paper in the journal, by Christopher Walsh and colleagues. They identified mutations in AHI1 as one cause of Joubert syndrome, which is of particular interest given the authors’ evolutionary speculation that it may be involved in some aspects of “the distinctive motor programs that characterize humans”. The identification of additional Joubert genes may shed light on this hypothesis.

But the press release also announces a program to identify the mutated genes underlying every X-linked disorder:

While researchers have identified the genes responsible for a number of X-linked disorders, the precise genetic basis for approximately 130 of these disorders remains to be determined. The study would entail completely sequencing all genes on the X chromosomes of individuals affected with the disorders, and looking for variations that consistently correlate with each disorder.

In other words, if the project is successful, we will have for the first time a complete list of genes on an entire human chromosome that when mutated cause known mendelian forms of disease. A landmark in human genetics in the offing.