Daniel MacArthur
Human genomics, rare disease, and open data. Co-director of Medical and Population Genetics at @broadinstitute.
Thought Leader
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Never Waste a Good Crisis: Confronting Reproducibility in Translational Research
Reproducibility challenges in preclinical research threaten the integrity and viability
of our research enterprise. Here Drucker discusses the complexity of methodological,
technical, and ethical issues contributing to lack of reproducibility and...
Cornell University Food Scientist Brian Wansink Just Had Six More Studies Retracted
Wansink, who is still teaching at Cornell, has now retracted 13 papers in total.
A Run of Contrary Results
From the outside, medical progress looks a lot easier than it really is. Well, I realize that's true of a lot of things, but it's especially true in progress against disease, and that's especially especially true (as I've said here before) when...
An AI startup that claimed it can beat doctors in an exam is putting $100 million into creating 500 new jobs
Babylon Health's CEO Ali Parsa has hit back at critics who say the firm is undermining aspects of the NHS, and that its technology needs more scrutiny.
Study cracks open the secrets of the cancer-causing BRCA1 gene
Scientists have determined which of thousands of BRCA1 mutations are pathogenic and which are benign, they reported on Wednesday in the journal Nature.
Digging Into the Genetics of Drug Targets
Rare diseases - remember years ago, back when those were a case of market failure? When companies were reluctant to work on them because the market size was guaranteed to be small and you'd have to charge, like, a hundred thousand or more a year to...
What can loss-of-function variants predict about drug safety?
Large genetic datasets now allow us to quantify how well each human gene tolerates loss-of-function. Can this metric be used to predict adverse events of new drugs?
Daniel MacArthur
Wonderful post by @cureffi on how our team thinks about human loss-of-function variants in the context of drug target validation. Spoiler: it's complicated: cureffi.org/2018/09/12/lof… pic.twitter.com/U2g7odpzoU
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Pharma chief defends 400% drug price rise as a ‘moral requirement’
Nostrum Laboratories’ Nirmal Mulye says he is right to charge as much as possible and slams FDA
HLA-DQA1*05 is associated with the development of antibodies to anti-TNF therapy
Background: Anti-tumour necrosis factor (anti-TNF) therapies are the most widely used biologic therapies for treating immune-mediated diseases. Their efficacy is significantly reduced by the development of anti-drug antibodies which can lead to...
With big-name backing, Driver launches to match cancer patients with clinical trials
The company is betting a smartphone app can help close the gap between patients seeking experimental treatments and cancer centers ready to offer it.
Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts
RNA sequencing (RNA-seq) is a complementary approach for Mendelian disease diagnosis for patients in whom exome-sequencing is not informative. For both rare neuromuscular and mitochondrial disorders, its application has improved diagnostic rates....
Assessing the pathogenicity, penetrance and expressivity of putative disease-causing variants in a population setting
Over 100,000 genetic variants are classified as disease-causing in public databases. However, the true penetrance of many of these rare alleles is uncertain and may be over-estimated by clinical ascertainment. As more people undergo genome...
Radical open-access plan could spell end to journal subscriptions
European Commission special envoy Robert-Jan Smits has spearheaded a plan to make all scientific works free to read.
Insulin's High Cost Leads To Lethal Rationing
Alec Raeshawn Smith was 23 when diagnosed with Type 1 diabetes and 26 when he died. He couldn't afford $1,300 per month for his insulin and other diabetes supplies, so he tried to stretch the doses.
The man who tried to catalog humanity – John Hawks
Luigi Luca Cavalli-Sforza chased Darwin’s dream of a tree of humankind
Ada Lovelace Fellowship
Ada Lovelace Fellowship 2019: Nominations being accepted now through October 9, 2018
Los Angeles billionaire's hospital system declares bankruptcy
Patrick Soon-Shiong took over in July 2017, promising to provide 'the highest level of care with the best outcomes at lowest cost for all Californians.'