Genetics
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)
Review – Congenital myopathies: clinical phenotypes and new diagnostic tools
3 Dec, 2017 | 17:00h | UTCCongenital myopathies: clinical phenotypes and new diagnostic tools – Italian Journal of Pediatrics (free)
Gene Therapy Shows Promise For A Growing List Of Diseases
30 Nov, 2017 | 18:16h | UTCGene Therapy Shows Promise For A Growing List Of Diseases – NPR (free)
Research: Long-term effects of glucocorticoids in patients with Duchenne muscular dystrophy
29 Nov, 2017 | 16:46h | UTCCommentaries: Glucocorticoids offer long-term benefits for patients with Duchenne muscular dystrophy – Children’s National Health System, via ScienceDaily (free)
Research: Regeneration of the entire human epidermis using transgenic stem cells
11 Nov, 2017 | 19:19h | UTCRegeneration of the entire human epidermis using transgenic stem cells – Nature (link to abstract – $ for full-text)
Commentaries: A Dying Boy Gets a New, Gene-Corrected Skin – The Atlantic (free) Gene Therapy Creates Replacement Skin to Save a Dying Boy – The New York Times (free) AND ‘Extraordinary’ tale: Stem cells heal a young boy’s lethal skin disease – STAT (free) AND Scientists grow replacement skin for boy suffering devastating genetic disorder – The Guardian (free) Boy with rare disease gets brand new skin with gene therapy – Associated Press (free)
Guideline: Familial hypercholesterolaemia
5 Nov, 2017 | 20:37h | UTCFamilial hypercholesterolaemia: identification and management – NICE Guideline (free)
News release: Inherited risk of high cholesterol should be identified and treated as early as possible, NICE says in updated guidance (free)
Guideline: Cystic fibrosis
5 Nov, 2017 | 19:23h | UTCNICE Guideline: Cystic fibrosis: diagnosis and management (free)
News release: People with cystic fibrosis could be monitored through phone or video messaging, says NICE (free)
A baby with a disease gene or no baby at all: Genetic testing of embryos creates an ethical morass
29 Oct, 2017 | 00:52h | UTC
Is gene editing ethical?
23 Oct, 2017 | 20:45h | UTCIs gene editing ethical? – Medical News Today (free)
Related: Embryo Gene-Editing Experiment Reignites Ethical Debate – Scientific American (free) AND U.S. scientists edit genome of human embryo, but cast doubt on possibility of ‘designer babies’ – STAT (free)
Related Position Statement: Human Germline Genome Editing – American Society of Human Genetics (free) AND Commentary: 11 Organizations Urge Cautious but Proactive Approach to Gene Editing
Review: Thrombophilia Testing and Venous Thrombosis
23 Oct, 2017 | 20:46h | UTCSummary with 10 key points to remember: Thrombophilia Testing and Venous Thrombosis – American College of Cardiology, Latest in Cardiology (free)
See also: Thrombophilia Testing and Venous Thrombosis – NEJM Resident 360 (free)
Original article: Thrombophilia Testing and Venous Thrombosis – New England Journal of Medicine (link to abstract – $ for full-text)
Review: Brugada syndrome in children
12 Oct, 2017 | 18:00h | UTCBrugada syndrome in children – Stepping into unchartered territory – Annals of Pediatric Cardiology (free)
Review – BRCA mutation in ovarian cancer: testing, implications and treatment considerations
7 Oct, 2017 | 22:03h | UTC
Review: Diagnosis and classification of hematologic malignancies on the basis of genetics
7 Oct, 2017 | 21:52h | UTCDiagnosis and classification of hematologic malignancies on the basis of genetics – Blood (free)
Fathers pass on four times as many new genetic mutations as mothers
1 Oct, 2017 | 15:23h | UTCFathers pass on four times as many new genetic mutations as mothers – study – The Guardian (free)
Review: Von Hippel-Lindau Syndrome
1 Oct, 2017 | 14:47h | UTCA Review of Von Hippel-Lindau Syndrome – Journal of Kidney Cancer and VHL (free)
Review: Cystic Fibrosis – Diagnosis and Treatment
27 Sep, 2017 | 14:45h | UTCCystic Fibrosis: Diagnosis and Treatment – Deutsches Ärzteblatt international (free)
Related guidelines: Brazilian guidelines for the diagnosis and treatment of cystic fibrosis – Jornal Brasileiro de Pneumologia (free) AND Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation – The Journal of Pediatrics (free)