Category Archives: genetics

FDA vs. 23andMe: How do we want genetic testing to be regulated?

Yesterday the US Food and Drug Administration sent a letter to the human genetic testing company 23andMe giving them 15 days to respond to a series of concerns about their products and the way they are marketed or risk regulatory intervention. This action has set off a lot of commentary/debate about the current and future […]

Posted in genetics | Tagged , | 62 Responses

With its HeLa genome agreement, the NIH embraces a expansive definition of familial consent in genetics

I wrote before about the controversy involving the release earlier this year of a genome sequence of the HeLa cell line, which was taken without consent from Henrietta Lacks as she lay dying of ovarian cancer in 1950s Baltimore. Now, the NIH has announced an agreement with Lacks’ descendants to obtain their consent for access […]

Also posted in HeLa | 5 Responses

A neutral theory of molecular function

In 1968 Motoo Kimura published a short article in Nature in which he argued that “most mutations produced by nucleotide replacement are almost neutral in natural selection”. This fantastic paper is generally viewed as having established the “neutral theory” of molecular evolution, whose central principle was set out by Jack King and Lester Jukes in a Science paper the […]

Also posted in ENCODE, evolution, gene regulation, NOT junk, science | 27 Responses

The 99.9999%: more thoughts on stats in the autism sequencing paper

Yesterday I got incensed about a quote in a story in the NYT from a prominent autism researcher about the significance of findings in their recent paper (which described the sequencing of protein-coding genes from autistic individuals, their parents and siblings). The statement that so offended me, from the lead author of the paper, was that […]

Also posted in science | 16 Responses

Statistical BS from autism geneticist in New York Times

[UPDATE: There is a followup to this post here.] Last week Nature published the results of three studies (1,2,3) looking at the sequences of protein-coding genes from hundreds of individuals with autism and their parents. The main results are that there is a higher rate of de novo mutations in affected individuals, that these primarily […]

Also posted in science | 18 Responses

The AAAS believes the public should read press releases not papers

There’s been a lot of media coverage of and discussion about a recent paper from Bert Vogelstein and Victor Velvulescu about the utility of whole-genome sequencing to predict disease. Using previously published data on disease occurrence in identical twins, and a relatively simple mathematical model, the authors conclude that not only isn’t sequencing very useful for […]

Also posted in open access, publishing, science | 8 Responses

Zelda (the coolest transcription factor ever) is a master regulator of embryonic adolescence

PLoS Genetics just published a paper from my lab describing our analysis of the binding and activity of a remarkable protein, known as Zelda, that appears to be a master regulator of genome activation in the earliest stages of Drosophila development, and thereby plays a major role in shaping the form and function of the mature […]

Also posted in cool science, evolution, gene regulation, My lab, science | 2 Responses

DNA testing in baseball – more silly alarmism from reporters and bioethicists

The New York Times is fronting a story that combines two of my favorite subjects – DNA and baseball. Unfortunately, the story is ridiculously alarmist, and either willfully or ignorantly conflates DNA paternity/maternity tests with tests designed to extract other information from a person’s genome. The plug for the piece is that Major League Baseball […]

Also posted in baseball | Tagged , , | 4 Responses

Will Saletan’s incorrect conclusions on ACTN3 and race

While I was poking around for stories about ACTN3, I came upon this Slate piece from the usually reliable Will Saletan about the ACTN3 test and race. The story has a generally accurate discussion about ACTN3 allele frequencies and race, and I agree with most of what he has to say. But Saletan makes a […]

Posted in genetics | 2 Responses

The awful NYT story on ACTN3

A lot has been written about the genetic test for ACTN3 being marketed by ATLAS Research as a way to direct ones children towards the appropriate athletic endeavors since a story on the test appeared in the NY Times last week. Daniel MacArthur, in particular, has done a great job explaining the science behind the […]

Posted in genetics | Leave a comment