Rapping genomes for the people

The tough thing about getting people excited and interested in genetics is that most people don’t know what a genome is. I’m dead serious. I come across these non-genome-knowers all of the time. I recently had a conversation with someone I just met: obviously intelligent, well-read and presumably a genome-knower. This person had heard the term “genome” before, but he just couldn’t define it. He had a vague inclination that a genome has something to do with DNA. But he did not specifically know that a genome is a copy of his genetic material and is present in each of his trillions of cells. Wow!  Read more

Autism exomes arrive

Rational pharmacological treatment of autism spectrum disorders can only occur when the genes and the molecular pathways disrupted in this disease are well-understood. Today, three papers in Nature by Matthew State and colleagues, Evan Eichler and colleagues and Mark Daly and colleagues report the largest exome sequencing efforts in autism to date, involving nearly 600 trios and 935 further cases with the disease. Altogether, the papers provide strong evidence for three new autism genes (CHD8, KATNAL2 and SCN2A) and support the idea that autism is an extremely heterogeneous disease, meaning that many genes can confer high-risk for the disease. Previously, scientists estimated that the number of high-risk autism genes was ~200. However, the new data suggests that there are likely ~1000 high-risk autism genes, which can and should be identified with further sequencing.    … Read more

One for the tribe

Like most scientists out there, I’ve dreamt about having lab equipment in my kitchen. Wouldn’t it be so efficient to make pancake batter in a 500 mL conical, slap a piece of ParaFilm on top, invert a few times and pour directly into a frying pan? Or better yet, what if I could use a hot plate and a magnetic stirrer every time I made risotto? In her recently released movie, Losing Control, Harvard Biophysics PhD-turned-filmmaker Valerie Weiss brings a story embedded in science to the silver screen, complete with a scene in a home kitchen-turned-lab.  Read more

Melanoma sequencing identifies new druggable targets

Next-generation sequencing technologies are enabling unbiased searches for new cancer genes at an unprecedented scale. In 2011, a flurry of cancer exome and whole-genome papers have been published in high-impact journals, with more in the pipeline. The first genes to be targeted for personalized treatment will be ones harboring recurrent mutations at a high frequency and those with already known inhibitors/modulators. The delivery of personalized therapies in cancer will no longer be bottlenecked by a lack of targets; the development of effective therapies will require new insights into how cancers become resistant to drugs and hopefully, therapeutic interventions that bypass acquired resistance.  Read more

Chimpanzees are selfish, but children are kind

I pose an age-old question: what is it that makes us human? I think it depends who you ask. Ask a cognitive neuroscientist and they may say it’s our theory of mind, which is a fancy way of saying humans have empathy. Ask an evolutionary biologist and they will likely point out all the morphological traits that distinguish us from other primates, such as the large size of our cranial vaults or our opposable thumbs. Ask a psychologist and they may cite our conscience or our ability to use symbolism. But no matter who you ask, most would likely agree that our capacity for sharing resources and the social rules that regulate sharing are specific to human culture.  Read more