Cold Spring Harbor Laboratory has a ‘memory board,’ which is a forum for visitors, staff scientists, meeting participants, trustees, and others to share their memories of times at the lab. Reminiscences that have been posted so far range from the amusing to the romantic to the touching. There’s Mike Wigler, commenting on a heavy snow during his first winter at the lab (1978): “I followed the narrow path which led up the Demerec building where my lab occupied the top floor. An impressive buildings and grounds crew, thought I, but no groundsman had cleared the path. At the entry, Barbara McClintock was putting the finishing touches on her shoveling, and wished me good morning”. There’s Jonathan Kui’s amusing tale of swallowing a preparation of fifty fly brains. Ron Plasterk’s earliest memory of the lab (1983) consists of receiving the following excellent advice from Ira Herskowitz over dinner in Blackford Hall: “Ron, spare ribs you eat with your hands!” Pictures are welcome, too, such as Jim Lupski’s shot of a cake celebrating his and Jeremy Nathans’ first gel (1978), and some evocative pictures of the effects of Hurricane Carol in 1954, taken by A.W. Bernheimer. Unfortunately, the number of posted memories is relatively small. Meeting season is upon us, however, and provides the perfect reminder to record your experiences at one of science’s great institutions.

Frigola et al.

Epigenetic remodeling in colorectal cancer results in coordinate gene suppression across an entire chromosome band

Clark et al.

A distant upstream enhancer at the maize domestication gene tb1 has pleiotropic effects on plant and inflorescent architecture

Shore et al.

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

Ueki et al.

Total insulin and IGF-I resistance in pancreatic beta cells causes overt diabetes

Hashimoto et al.

Ablation of PDK1 in pancreatic beta cells induces diabetes as a result of loss of beta cell mass

Comments welcome.

Toydemir et al.

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

Ropero et al.

A truncating mutation of HDAC2 in human cancers confers resistance to histone deacetylase inhibition

Graham et al.

A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus

Comments welcome.

Last Wednesday I ate my spinach and dutifully listened in on a brief talk about “The Role of CLIA in the Oversight of Genetic Testing”.

Still with me?

CLIA stands for Clinical Laboratory Improvement Amendments, which is the law and accompanying regulations that cover laboratories that perform patient testing in the US. The regulation of genetic tests is minimal, and the Genetic Alliance has been agitating for a CLIA ‘specialty’ in genetic testing in order to protect consumers (some additional background information can be found here). Drs. Joe Boone and Bin Chen listed the information that laboratories offering these tests would be required to provide (their PowerPoint presentation can be downloaded here). All of the proposed requirements seem unobjectionable. According to Boone, the Department of Health and Human Services will post a notice of this proposed rule in late 2006 or early 2007. Remarkably, these changes were first recommended by the CLIA advisory committee back in 1998. Keep in mind that this will not be a change in law, with all of the legislative horsetrading that goes on; this is simply a new regulation. But it will be at least nine years between recommendation and action. I think the bureaucracy will have to be a bit more nimble if it’s going to keep up with changes in medical genetics, pharmacogenetics, and other areas.

Nicholas Cozzarelli has died. His excellent work falling under the heading of nucleic acids enzymology is well known, and led to his election to the National Academy of Sciences. His leadership of the Proceedings of the National Academy of Sciences has also been widely admired. An obituary in the San Francisco Chronicle has the quote from Solomon Snyder:

He was the finest journal editor with whom I have ever dealt, and it is generally accepted that he was the best editor of the PNAS since its inception in 1915,” said Dr. Solomon Snyder, the journal’s senior editor and a neuroscientist at the Johns Hopkins University medical school.

Nick revolutionized what had become a stodgy, though highly prestigious, journal by opening it up to the general scientific public,” Snyder said. Professor Cozzarellli’s “caring, ebullient personality” and “warm one-to-one” approach inspired the 143 members of the editorial board to devote vast amounts of their time to the journal, Snyder said.

PNAS has tributes to his life and work, including an editorial from Bruce Alberts and links to newspaper obituaries.

We offer our condolences to his family.

Last week’s announcement of Tiktaalik roseae, a transitional fossil between fishes and land vertebrates, received wide coverage. The discovery also received the rare honor of being a science story that the editors of The New York Times deemed the most important story of the day (right side, above the fold). You can read the Nature papers and additional commentary here. Carl Zimmer, whose book At the Water’s Edge is as good an account of this area of research for non-specialists as one could hope for, weighs in here.

Bender et al.

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

Kraytsberg et al.

Mitochondrial DNA deletions are abundant and cause focal function impairment in aged human substantia nigra neurons

Babitt et al.

Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression

Musio et al.

X-linked Cornelia de Lange syndrome due to SMC1L1 mutations

Comments welcome.

This is a bit far afield, but I thought I’d say a few words about an invitation I stumbled into to hear a brief address from Kapil Sibal, the Indian Minister for Science & Technology. My occupation was noted on the visa application form that I presented at the Indian consulate here in New York, and I was told to go ‘upstairs’ to meet with the Deputy Consul General. After reassuring me that they would indeed let me into the country (I was seconds away from pointing out the nonrefundable nature of my plane reservations), he invited me to attend the reception for Mr. Sibal, who is visiting the US to launch the India-US Biotechnology Working Group, to visit the NIH, and to attend BIO-2006 in Chicago. A sizable group of science journalists, editors, and business leaders were in attendance.

Sibal touched on a range of initiatives in Indian science, but two things stood out. The first was the casual confidence he expressed in homegrown Indian innovation. One questioner asked whether the biotechnology collaborations being established with the US would be one-sided, with US technologies exploiting Indian resources. Sibal replied that it might end up being a one-sided relationship, but in the opposite direction. OK, that’s a line that only a politician could love. But the statistics he reeled off and the overall context of his talk lead me to think this wasn’t just spin. The second thing that impressed me was his grasp of technical issues. Someone asked him what the Indian government is doing to improve the quality of drinking water, and off the cuff he discussed pilot desalination projects in Kavaratti and Chennai that take advantage of steep temperature gradients that exist in the Indian Ocean. This man was trained as a lawyer, but he seemed to have the kind of technical facility that would be not often be apparent in cabinet secretaries in the US.

Service et al.

Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies

Stoetzel et al.

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Calvo et al.

Systematic identification of human mitochondrial disease genes through integrative genomics

Spinazzola et al.

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Comments welcome.