Clonal Hematopoiesis is Associated with Inherited Variants

Loh et al. found 52 inherited, rare, large-effect coding or splice variants in 7 genes that were associated with greatly increased vulnerability to clonal hematopoiesis. Clonally expanded blood cells that contain somatic mutations (clonal hematopoiesis) are commonly acquired with age and increase the risk of blood cancer. These inherited variants led to specific, acquired mutations that set the stage for cancer. This work was published by Nature and covered by HMS news and the Broad Institute.


Sperm-Seq Reveals the Dynamics of Crossovers in Sperm

Using Sperm-seq, Bell et al. sequenced the genomes of 31,228 gametes from 20 sperm donors, identifying 813,122 crossovers, 787 aneuploid chromosomes, and unexpected genomic anomalies. Avery’s results can be incorporated with earlier studies into a unified model in which the variable physical compaction of meiotic chromosomes generates interindividual and cell-to-cell variation in meiotic phenotypes such as crossover frequency and placement. Her work was published by Nature and covered by HMS news and Genomeweb.


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 […]


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 […]


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. […]


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 […]


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 […]


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 […]


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 […]