Mouse Brain Atlas

Our Arpiar Saunders has published his atlas of the mouse brain. Using single-cell sequencing, our lab unmasked the unique genetic signatures of more than 560 cell populations across nine brain regions. Here's an article about the trials and tribulations of creating the study, as well as its implications for scientific research.

Evan Macosko wins the NIH Director’s New Innovator Award

Evan Macosko has received the NIH Director’s New Innovator Award, a grant that funds high-risk, high-reward projects from early-career investigators. The proposed project must be deemed creative and high-impact, and since the investigator cannot have received a previous R01, preliminary data is optional. The New Innovators are considered to be among the best and brightest newcomers to PI-dom and each receive a bio on the NIH website, along with $300K per year of flexible spending for their lab. Evan has been a co-PI on other grants, but this award is his first major grant as a solo PI. The project he proposed was Slide-seq, a technique to investigate gene expression while preserving spatial resolution or put another way: to see which RNA is where across a tissue. Read More

Clonal Hematopoiesis and Its Origins

Giulio Genovese has published a follow-up article to his initial discovery of a common precancerous condition. In 2014, we described a common pre-cancerous state, involving the clonal amplification of blood cells with somatic mutations, that is readily detected by DNA sequencing, is increasingly common as people age, and is associated with increased risk of blood cancer later in life. Now, we describe the inherited and acquired mutations that drive this precancerous condition. For more information, please check out: An HMS News article; A New York Times article on heart disease; A feature in Science; A Boston Globe article

Christina Usher Interviewed by the BBC

Christina Usher was interviewed by the BBC for an upcoming special, "The Truth About Carbs". The interview covered what we currently know about the amylase gene and its impact on metabolism. See Christina's paper in Nature Genetics on amylase, from her Ph.D. work in the lab.

Fenna Krienen in Science

An article on the Science website describes Fenna's research to map the brain – first cataloging long-range synaptic connections in the human brain (in Randy Buckner's lab) and now analyzing the conservation of neuronal types and subtypes across species (in our lab).

Schizophrenia and the Complement Proteins

The work of our Aswin Sekar et al. implicate excessive complement activity in the development of schizophrenia and may help explain the reduced numbers of synapses in the brains of individuals with schizophrenia. For more information, check out: An article in Harvard Magazine, featuring an image of C4 protein at synapses, which was taken by our Heather de Rivera; An article in the New Yorker; An article in the New York Times

Amnon Koren receives the NIH Director’s New Innovator Award

Amnon Koren has won the NIH Director’s New Innovator Award, a grant that funds high-risk, high-reward projects from creative, budding scientists at the beginning of their careers as independent investigators. The New Innovators are considered to be among the best and brightest newcomers to PI-dom and each receive a bio on the NIH website, along with $300K per year of flexible spending for their lab. Amnon, who was previously a postdoc in the McCarroll lab, started his own lab at Cornell University a year ago. There, he spent his first month grant writing at a makeshift desk hunched over his laptop, because his office was being renovated and his desktop computer hadn’t been shipped. Read More

Evan Macosko is among MIT Technology Review’s “35 Innovators Under 35”

Evan Macosko has been named a top inventor in the MIT Technology Review’s “35 Innovators Under 35” for his work on inventing Drop-seq. Evan’s Drop-seq technology, which he developed during his postdoctoral research in the McCarroll lab, makes it possible to analyze gene expression in thousands of individual cells simultaneously.  Evan and technician Melissa Goldman wrote a detailed Drop-seq protocol that has been downloaded from the lab website tens of thousands of times.  Hundreds of labs have built Drop-seq setups from their detailed instructions.  Companies like 10X Genomics, Illumina, and Bio-Rad have worked to develop commercial versions of droplet-based single-cell RNA-seq. Read More

TP53 Mutations in Stem Cells

Articles by Stat News and GEN on our discovery (together with Kevin Eggan's lab) that pluripotent stem cells routinely acquire dominant-negative mutations in the TP53 gene.  Florian Merkle and Sulagna (Dia) Ghosh led the research team.

Steve McCarroll, Beth Stevens, and Mike Carroll win the NAMI Award

NAMI, the National Alliance on Mental Illness, is an organization dedicated to building better lives for Americans affected by mental illness. Each year, it awards scientists who have inspired hope through their research. This year (2016), Steve McCarroll, Beth Stevens, and Mike Carroll were presented with the award at the National Geographic in Washington, DC for their work in understanding the biology of schizophrenia. Here’s a clip! Read More

Arpiar Saunders receives a Helen Hay Whitney Fellowship.

Arpy Saunders has received a three-year post-doctoral fellowship from the Helen Hay Whitney Foundation (HHW), marking another step on his scientific journey that started in a cabin in the New Hampshire woods. Having grown up there, it is no surprise that, before coming to our lab, he studied outdoorsy science such as bird behavior in Alaska and the genetics of wildflowers in Montana. Yet, he has a strong interest in language as well: he knows German and Armenian, studied quantitative linguistic phylogenetics at the Max Planck Institute, and taught English to children on a Micronesian island (though he may have been referring to the day our coffee machine broke and the entire lab resorted to grunting at each other). Read More

Matt Baum publishes his book, ‘The Neuroethics of Biomarkers’.

Matt Baum (a student in the lab) has written a book, published by Oxford University Press and available through Amazon, on the challenges and controversies involved in using disease biomarkers to evaluate patients, judge criminals, and make moral decisions. The book shines in its plethora of practical, thought-provoking examples and hypotheticals. In an example that highlights how our intuition of blame can shift, the reader is told of an imaginary woman who loses control of a truck and injures two pedestrians. The readers are asked how much they would blame the woman for losing control if (a) she had been driving recklessly, (b) she had an unexpected seizure, (c) she knew she had epilepsy but still decided to drive, or (d) she had biomarkers indicating she was at high risk for her first seizure but had ignored them. Read More

Drop-seq

Our Evan Macosko has published his work on Drop-seq, a technology we developed to enable massively parallel analysis of RNA expression in thousands of individual cells. For additional information, please check out: A Cell video abstract; An article in the Atlantic; An article by NIH Director Francis Collins; An article by NIMH Director Tom Insel; An article Professor Samantha Morris

Cells and alleles in droplets

Two new papers from the McCarroll lab describe ways of using nanoliter droplets to answer questions in genetics and biology.  Droplets provide a way of scaling molecular biological reactions across tens of thousands of tiny reaction compartments.   In Drop-phase, Jack Regan, Nolan Kamitaki and colleagues describe a way to quickly determine the chromosomal phase of multiple sequence variants, even when those variants are separated by substantial genomic distances.  Their approach involves partitioning genomic DNA across thousands of droplets, then analyzing how alleles from different loci co-partition across the droplets.   In Drop-seq, Evan Macosko and colleagues describe a way to profile genome-wide gene expression in thousands of individual cells, in facile, inexpensive experiments.   Read More

DNA replication varies among humans

A process as fundamental as replication of a genome varies from person – shaped by common, inherited genetic variation that can also affect risk of cancer. The work is described in a new paper by Amnon Koren and colleagues in Cell.

Investigations into DNA Replication Timing

Amnon Koren has published three papers centered around his work on DNA replication timing. He described a new way to study DNA replication by using increasingly abundant whole genome sequence data, which he found contained signatures of DNA replication processes that were active in cells at the moment DNA was extracted from them. For more information, please check out: Amnon Koren's papers (1 2 3); News and Views article by Jay Shendure in CellHMS video describing the discovery