Genetics
Perspective: the struggle to build a massive ‘biobank’ of patient data
3 Apr, 2018 | 15:59h | UTCThe Struggle to Build a Massive ‘Biobank’ of Patient Data – The New York Times (10 articles per month are free)
The Struggle to Build a Massive ‘Biobank’ of Patient Data
30 Mar, 2018 | 03:11h | UTCThe Struggle to Build a Massive ‘Biobank’ of Patient Data – The New York Times (10 articles per month are free)
Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings
30 Mar, 2018 | 03:05h | UTCShort-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial – Genetics in Medicine (free PDF for a limited period)
Commentary: Sequencing patients’ genomes might not break the health care bank, study finds – STAT News (free)
Viewpoint: Precision Medicine, Genome Sequencing, and Improved Population Health
22 Mar, 2018 | 23:41h | UTCViewpoint: Precision Medicine, Genome Sequencing, and Improved Population Health – JAMA (free for a limited period)
Opinion: At-home genetic testing may be convenient, but it isn’t complete
16 Mar, 2018 | 01:27h | UTCAt-home genetic testing may be convenient, but it isn’t complete – STAT (free)
Crispr gene editing ready for testing in humans
16 Mar, 2018 | 01:19h | UTCCrispr gene editing ready for testing in humans – Financial Times (free for a limited period)
Source: Medical Futurist Newsletter
With new CRISPR inventions, its pioneers say, you ain’t seen nothin’ yet
1 Mar, 2018 | 22:04h | UTCWith new CRISPR inventions, its pioneers say, you ain’t seen nothin’ yet – STAT (free)
Recommendations for the detection and diagnosis of Niemann-Pick disease type C
1 Mar, 2018 | 21:56h | UTC
Research: Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy
22 Feb, 2018 | 22:50h | UTCGenetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy – Journal of the American College of Cardiology (link to abstract – $ for full-text)
Commentary: Noncompaction Cardiomyopathy Outcomes – American College of Cardiology, Latest in Cardiology (free)
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants
22 Feb, 2018 | 21:42h | UTCCommentaries: Cracks in the code: Why mapping your DNA may be less reliable than you think – The Globe and Mail (free) AND Genomics has entered its adolescent phase: messy and unpredictable – The Globe and Mail (free) AND University of Toronto News (free)
Why A Gene Therapy Pioneer Is Raising Concerns About Treatments He Championed
16 Feb, 2018 | 00:40h | UTCWhy A Gene Therapy Pioneer Is Raising Concerns About Treatments He Championed – Forbes (free)
Review: Congenital Insensitivity to Pain Overview
16 Feb, 2018 | 00:36h | UTCCongenital Insensitivity to Pain Overview – GeneReviews (free)
The Famine Ended 70 Years Ago, but Dutch Genes Still Bear Scars
15 Feb, 2018 | 11:11h | UTCThe Famine Ended 70 Years Ago, but Dutch Genes Still Bear Scars – The New York Times (free)
Research: Polygenic Contribution in Individuals With Early-Onset Coronary Artery Disease
15 Feb, 2018 | 10:39h | UTCCommentary: Genetic Risk Score May Best FH Variant for Predicting Early-Onset CAD – Medscape (free registration required)
“Another study suggests CAD will soon be predicted not by 1 gene (like FH) but groups of genes that can be combined into risk scores” (via @drjohnm see Tweet)
Review: Management of Turner Syndrome
4 Feb, 2018 | 16:57h | UTC
Research: Cloning of Macaque Monkeys
26 Jan, 2018 | 00:38h | UTCCloning of Macaque Monkeys by Somatic Cell Nuclear Transfer – Cell (free)
Commentaries: These monkey twins are the first primate clones made by the method that developed Dolly – Science (free) AND First monkeys cloned with technique that made Dolly the sheep – Nature (free) AND How afraid of human cloning should we be? – The Guardian (free)
Gene Editing – And What it Really Means to Rewrite the Code of Life
25 Jan, 2018 | 20:53h | UTCGene editing – and what it really means to rewrite the code of life – The Guardian (free)
Related: Correction of a pathogenic gene mutation in human embryos (free articles and commentaries) AND Simple guide to CRISPR, one of the biggest science stories of the decade – VOX (free)
Ethical and Safety Issues of Stem Cell-Based Therapy
23 Jan, 2018 | 14:18h | UTCEthical and Safety Issues of Stem Cell-Based Therapy – International Journal of Medical Science (free)
Supervised Machine Learning for Population Genetics
23 Jan, 2018 | 14:04h | UTCSupervised Machine Learning for Population Genetics: A New Paradigm – Trends in Genetics (free)
Representing a “Revolution”: How the Popular Press has Portrayed Personalized Medicine
16 Jan, 2018 | 17:14h | UTC
Review of Genetic Reticulate Pigmentary Disorders
16 Jan, 2018 | 13:29h | UTCUpdated Review of Genetic Reticulate Pigmentary Disorders – The British Journal of Dermatology, via Medscape (free registration required)
Research: Germline BRCA Mutation and Outcome in Young-Onset Breast Cancer
16 Jan, 2018 | 12:57h | UTCCommentaries: Breast cancer in young women: do BRCA1 or BRCA2 mutations matter? – The Lancet Oncology (free) AND Survival for young breast cancer patients is the same whether or not they carry a BRCA mutation – eCancer News (free) AND Young-Onset Breast Cancer Survival Unaffected by BRCA Status – MedPage Today (free)
Review: Emerging Models of Direct-to-Consumer Genetic Testing
9 Jan, 2018 | 23:58h | UTC
$850,000 per Patient for Blindness Gene Therapy
4 Jan, 2018 | 16:53h | UTCSpark to charge $850,000 per patient for blindness gene therapy – Reuters (free) AND US drug firm offers cure for blindness – at $425,000 an eye – The Guardian (free) AND Spark prices its gene therapy as most expensive U.S. medicine — but with plans to ease cost concerns – STAT (free)
Review: Medical Management of Aortic Disease in Marfan Syndrome
2 Jan, 2018 | 16:01h | UTCMedical management of aortic disease in Marfan syndrome – Annals of Cardiothoracic Surgery (free)