Research Roundup: May 25, 2018

A new approach for growing neurons, an HIV survival strategy, whole-genome blood typing, and more.

Erik Jacobs
Credit: Erik Jacobs

Welcome to the May 25, 2018 installment of Research Roundup, a recurring snapshot of recent studies published by scientists at the Broad Institute and their collaborators.

Identifying disease risk factors in the Ashkenazi Jewish population

It is estimated that one in three individuals of Ashkenazi Jewish (AJ) descent carry mutations that increase their risk for certain genetic diseases. In a study published in PLoS Genetics, visiting scientist Manuel Rivas at Stanford, institute member and Medical and Population Genetics (MPG) co-director Mark Daly, and coauthors describe Crohn’s disease-related genetic risk factors that appear more frequently in the AJ population, compared to other populations. Analyzing 5,685 exomes (the protein-coding portion of the genome) from individuals of AJ descent, the researchers provide a detailed list of genetic variants that increase the risk of Crohn’s and of rare diseases like Gaucher, Canavan, and Tay Sachs. Read more in a Broad news story.

For growing neurons, two methods are better than one

To model human brain cells in a dish, scientists have tried urging pluripotent stem cells to become mature neurons, with limited success. A team led by Broad institute member Kevin Eggan in the Stanley Center for Psychiatric Research, Ralda Nehme, and Emanuela Zuccaro combined two approaches — mimicking embryonic development through directed differentiation, and programming cells with transcription factors — to grow cells in a range of developmental stages, resembling early progenitor cells up to well-differentiated excitatory neurons. Described in Cell Reports, the effort identified a highly differentiated subgroup of cells, suggesting that the approach holds promise to model diseases like schizophrenia, epilepsy, and autism.

HIV boots up T cells’ survival software

The hallmark of HIV infection is a dramatic loss of T cells. But paradoxically, HIV needs a small reservoir of T cells to stay alive to keep an infection going. In this week's Immunity, a team led at the Broad by institute scientist and Proteomics Platform director Steven Carr and associate member Mathias Lichterfeld at Brigham and Women's Hospital (BWH) reported that HIV turns on a cell survival program governed by a protein called BIRC5. The team also found that compounds that interfere with BIRC5 could, in a lab dish, trigger death in infected T cells from HIV patients. Learn more in a BWH news story.

Whole-genome blood typing

In The Lancet Haematology, a team led at the Broad by MPG collaborators institute member Heidi Rehm and associate member Robert Green at BWH unveiled a computational tool that predicts an individual's blood group antigen profile from genomic sequences — a new use for whole-genome sequencing. Validated on genomes collected through the MedSeq Project, the bloodTyper algorithm can cost-effectively identify hundreds of red blood cell and platelet antigens, far beyond those defining the familiar A, B, AB, and O blood types. This information is important for avoiding life-threatening complications during blood transfusions and prenatal care. Read more in a BWH press release and GenomeWeb.

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