Genetics & Rare Diseases
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)
Randomized Controled Trial: Genotype-Guided Warfarin Dosing on Clinical Events and Anticoagulation Control
27 Sep, 2017 | 14:02h | UTCEffect of Genotype-Guided Warfarin Dosing on Clinical Events and Anticoagulation Control Among Patients Undergoing Hip or Knee Arthroplasty: The GIFT Randomized Clinical Trial – JAMA (link to abstract – $ for full-text)
Commentaries: Genotyping Reduces Adverse Events with Warfarin – Cardiobrief (free) AND Genotype-Guided Warfarin Dosing Reduces Adverse Events After Hip, Knee Arthroplasty – Physician’s First Watch (free)
Review: Sickle Cell Disease
24 Sep, 2017 | 00:15h | UTCSickle Cell Disease – Gene Reviews (free)
Systematic Review: Molecular testing for Lynch syndrome in people with colorectal cancer
18 Sep, 2017 | 13:54h | UTC
Review: Heritable pulmonary hypertension
16 Sep, 2017 | 17:54h | UTCHeritable pulmonary hypertension: from bench to bedside – European Respiratory Review (free)
Free Online Course: Genomics: Decoding the Universal Language of Life
11 Sep, 2017 | 01:02h | UTCStarts Today! Free Online Course: Genomics: Decoding the Universal Language of Life – University of Illinois at Urbana-Champaign and Coursera
FDA approval brings first gene therapy to the United States
3 Sep, 2017 | 21:19h | UTCFDA News Release: FDA approval brings first gene therapy to the United States (free)
Commentaries: A $475,000 cancer drug: Wall Street sees ‘bargain’; patients see ‘completely broken’ system – HealthNewsReview (free) FDA Approves First CAR-T Cell Therapy for Pediatric Acute Lymphoblastic Leukemia – National Institutes of Health (free) AND FDA Approves First Gene-Altering Leukemia Treatment, Costing $475.000 – New York Times (10 articles per month are free) AND The FDA Approves a Landmark Cancer Drug – The Atlantic (free)
“…is a cancer therapy that represents several things at once: a game-changing way to treat cancer through genetic engineering, a novel paradigm for the biotech business, and the latest turn in the debate over just how astronomically expensive a life-saving therapy can be”. (from The Atlantic)
Review: Familial Cancers of Head and Neck Region
26 Aug, 2017 | 15:46h | UTCFamilial Cancers of Head and Neck Region – Journal of Clinical & Diagnostic Research (free)
Study: Genetic counseling works as well over the phone as in person
26 Aug, 2017 | 15:34h | UTCGenetic counseling works as well over the phone as in person, study finds – STAT (free)
Related commentary: Telemedicine OK for Genetic Testing and Counseling – MedPage Today (free registration required)
Guideline: Management of Inherited Polyposis Syndromes
22 Aug, 2017 | 12:59h | UTC
Pig genome editing with goal of providing organs for transplant
16 Aug, 2017 | 18:04h | UTCInactivation of porcine endogenous retrovirus in pigs using CRISPR-Cas9 – Science (link to abstract – $ for full-text)
Commentaries: Birth of CRISPR’d pigs advances hopes for turning swine into organ donos – STAT (free) AND Gene editing to remove viruses brings transplant organs from pigs a step closer – The Guardian (free) AND Gene Editing Spurs Hope for Transplanting Pig Organs Into Humans – New York Times (10 articles per month are free) AND Gene editing brings pig organ transplant closer – NHS Choices (free) AND Scientists edit pig genome with goal of human organ transplants – CNN (free text and video)