Genetics & Rare Diseases
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)
CRISPR-ing Humans in 2018
29 Dec, 2017 | 17:49h | UTC“CRISPR-ing humans in 2018: gearing up for many clinical trials X3” (RT @EricTopol see Tweet)
– CRISPR in 2018: Coming to a Human Near You – MIT Technology Review (free)
– In 2018, We Will CRISPR Human Beings – GIZMODO (free)
– Human CRISPR Trials Will Happen in 2018. They’ll Look Like This – BigThink (free)
Related: Simple guide to CRISPR, one of the biggest science stories of the decade – VOX (free)
Consensus: Role of Genetic Testing for Inherited Prostate Cancer Risk
27 Dec, 2017 | 21:19h | UTCCommentary: New Recommendations Guide Doctors on Genetic Counseling and Genetic Testing for Hereditary Prostate Cancer – Thomas Jefferson University, via NewsWise (free)
Review – SDHx mutations: beyond pheochromocytomas and paragangliomas
27 Dec, 2017 | 20:44h | UTCSDHx mutations: beyond pheochromocytomas and paragangliomas – European Journal of Endocrinology (free)
Guideline: Genetic/Familial High-Risk Assessment in Colorectal Cancer
26 Dec, 2017 | 19:58h | UTCReview of Prader-Willi Syndrome: The Endocrine Approach
26 Dec, 2017 | 19:27h | UTCReview of Prader-Willi syndrome: the endocrine approach – Translational Pediatrics (free)
The best and worst analogies for CRISPR, ranked
12 Dec, 2017 | 12:07h | UTCThe best and worst analogies for CRISPR, ranked – STAT (free)
Related: Simple guide to CRISPR, one of the biggest science stories of the decade – VOX (free)
Research: Hemophilia B Gene Therapy with a High-Specific-Activity Factor IX Variant
7 Dec, 2017 | 22:06h | UTCHemophilia B Gene Therapy with a High-Specific-Activity Factor IX Variant – New England Journal of Medicine (link to abstract – $ for full-text)
Quick Take Video Summary: Gene Therapy for Factor IX Deficiency (free)
Commentary: One-dose gene therapy produces clotting factor, safely stops bleeding in hemophilia B patients – MedicalXpress (free)
Overview of the cutaneous porphyrias
5 Dec, 2017 | 18:13h | UTCAn overview of the cutaneous porphyrias – F1000 Research (free)
European guidelines on phenylketonuria
3 Dec, 2017 | 17:41h | UTC
Review: Recent Advances in Understanding Werner Syndrome
3 Dec, 2017 | 17:15h | UTCRecent Advances in Understanding Werner Syndrome – F1000 Research (free)