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News / Spotted

Funding free fall; mending mutations; film focus

by  /  17 March 2017

WEEK OF
March 13th

Funding free fall

President Donald Trump’s first budget proposal includes a whopping $5.8 billion cut for the U.S. National Institutes of Health (NIH), The Washington Post reported Thursday.

More than 80 percent of the NIH budget supports the projects of 300,000-plus external researchers, often in the form of multi-year grants. The proposed cuts are bound to put some of this work, which includes autism research, in jeopardy.

The NIH is not the only science agency that would shrink under the budget plan. Trump is also recommending major cuts to programs at the Environmental Protection Agency and the National Oceanic and Atmospheric Administration.

The budget blueprint still has to go through a long review process that includes input from Congress, but science advocates are already voicing concern.

Rush Holt, chief executive officer of the American Association for the Advancement of Science, called the proposed cuts “short-sighted,” saying they would “cripple” science and technology, according to an article in STAT.

On Twitter, U.S. Senator Bernie Sanders had a few words for the plan as a whole:

Sources

Mending mutations

In a gene-editing first, researchers have used CRISPR to correct genetic mutations in human embryos.

Previous efforts to repair genes in human embryos with CRISPR proved unsuccessful, with most of the cells evading the edits. This time, scientists at the Third Affiliated Hospital of Guangzhou Medical University created embryos by fertilizing healthy eggs with sperm from men with genetic disorders. They then used CRISPR to correct mutations linked to two different blood disorders in two of the embryos.

The study was small, yet “it is encouraging,” Robin Lovell-Badge of the Francis Crick Institute in London, told New Scientist.

Real risk

Most researchers agree that autism stems from a combination of genetic and environmental factors. Identifying environmental risk factors for the condition is no easy task, however.

 An op-ed in STAT this week suggests the debunked link between autism and vaccines has hindered efforts to understand the real environmental risk factors for autism. The piece, penned by Alycia Halladay, chief science officer at the Autism Science Foundation, argues that persistent media attention on the autism-vaccine myth distracts from legitimate investigations into the role of air pollution and infection during pregnancy in autism risk.

“Knowledge and understanding of these real environmental factors could lead to actual therapies or ways to prevent the debilitating symptoms of autism,” she writes.

An in-depth story by Spectrum in 2015 explored why we don’t know more about the environmental factors that contribute to autism.

Building genomes

Scientists are making progress in their mission to build a complex genome from scratch: Last week they created 5 of the 16 chromosomes in brewer’s yeast, STAT reports.

The same research team engineered the first yeast chromosome in 2014.

Scientists hope the techniques they’re using in the yeast project can be applied to other efforts, such as Genome Project-write, which aims to build mammalian genomes, including human, in the lab.

“Obviously the details of writing a human genome will be different, but some of the things we learned should feed into GP-write,” geneticist Jef Boeke told STAT. Boeke, professor of biochemistry and molecular pharmacology at New York University, co-leads both the yeast project and Genome Project-write.

Sources

Film focus

A short documentary titled “Perfectly Normal” highlights the challenges faced by some adults with autism.

The film, produced by The New York Times, centers on Jordan Kamnitzer, a middle-aged man on the spectrum. It depicts Kamnitzer’s day-to-day life: his difficulty connecting with people at work, the joy he feels playing the piano, and a moment of sensory overload, conveyed to viewers using music and rapid cuts.

Kamnitzer narrates the film, inviting viewers into his world. “There is no such thing as completely normal,” he says.

Eli Gottlieb, a writer whose brother has autism, praised the film for giving viewers a rare glimpse into the experience of having autism. In an op-ed published Tuesday in The Times, he applauded Kamnitzer’s unique ability to “inhabit his condition while describing it for us.”

Sources
The New York Times

Perfectly normal

Sources
The New York Times / 14 Mar 2017

‘Perfectly normal’: Autism through a lens

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