Press

My Journey with Muscular Dystrophy into Academia
On Boston Channel 5 (ABC) News promoting Strength Science and Stories of Inspiration Charity event 2017

“Researcher with LGMD Aims to Bring Genetic Diagnoses to People Around the World” on Muscular Dystrophy Association website

“The Muscle Detectives” on the Broad Institute Giving website

“Interview with Daniel MacArthur and Monkol Lek” on Broad Ignite Podcast

“The Gene Bank that Weeds out Benign Mutations” on The Australian

“Monkol Lek on his humble Blacktown beginnings to the forefront of science at Harvard” on the Daily Telegraph

“AAA Fellows Angela and Monkol Lek continue positive impact on rare disease research” on the Australian American Association website

“Improving the Diagnosis of Neuromuscular Diseases” on AANEM News on Page 16

Exome Aggregation Consortium (ExAC)
“The Exome Aggregation Consortium (ExAC) database: shedding light on human genetic variation” – video made by Broad Institute Communication for the General Public

“How Data-Wranglers Are Building the Great Library of Genetic Variation” on the Atlantic by my favorite blogger Ed Yong

“Largest collection of human exome sequence data yields unprecedented tool for diagnosing rare disease” on Broad Institute Media Release website

“We’re all different in our DNA. We’re finally starting to understand when those differences matter” on STAT

“Largest Human Genetic Variation Repository Yet” on The Scientist

“Exome Data From 60K-Person Cohort Yields Novel Rare Variants” on GenomeWeb

“Going Deep and Wide” on Harvard Medical School News

“Human variation decoded” on University of Sydney News

“Disease study lets gene mutations off the hook” on The Australian

Exome Aggregation Consortium (ExAC) Editorials and other coverage
Shendure J. Human genomics: A deep dive into genetic variation. Nature. 2016
Aug 18;536(7616):277-8. PMID: 27535530

Bahcall OG. Genetic variation: ExAC boosts clinical variant interpretation in
rare diseases. Nat Rev Genet. 2016 Sep 15;17(10):584. PMID: 27629930

F1000 Prime Review in October, 2015

F1000 Prime Review in October, 2016

A guide to the Exome Aggregation Consortium data on the Genetics Society of America Blog

Other News Links via Nature

Other
Comments made to Senator Elizabeth Warren features on Page 5 and 33 “Investing in Innovation: The Payoffs of Funding Biomedical Research in Massachusetts”. A report against the proposed NIH 2017 20% budget cut

Rare Genomes Project video for general public that emphasizes the importance of rare disease patients themselves in empowering research

Inside the MacArthur Lab on Slack Blog