Genetics & Rare Diseases
Antigenic evolution will lead to new SARS-CoV-2 variants with unpredictable severity.
21 Mar, 2022 | 09:47h | UTC
Commentary on Twitter
Antigenic evolution will lead to new SARS-CoV-2 variants with unpredictable severityhttps://t.co/iFL1AD4q2l@pvmarkov, @ArisKatzourakis & Stilianakis argue that ongoing rapid antigenic evolution is likely to produce new variants that may escape immunity and be more severe. pic.twitter.com/BddNu5DZaq
— Nature Reviews Microbiology (@NatureRevMicro) March 14, 2022
M-A: Risk of peritoneal carcinomatosis after risk-reducing salpingo-oophorectomy in BRCA1/2 pathogenic variant (PV) carriers.
22 Mar, 2022 | 07:58h | UTC
Valoctocogene Roxaparvovec gene therapy for Hemophilia A.
21 Mar, 2022 | 08:27h | UTCValoctocogene Roxaparvovec Gene Therapy for Hemophilia A – New England Journal of Medicine (link to abstract – $ for full-text)
Commentaries:
Valoctocogene Roxaparvovec Evaluated in Severe Hemophilia A – HealthDay
Hemophilia A Gene Therapy Reduced Bleeding Events, Need for Clotting Factors – AJMC
Two years later, coronavirus evolution still surprises experts. Here’s why.
15 Mar, 2022 | 08:52h | UTCTwo years later, coronavirus evolution still surprises experts. Here’s why. – National Geographic
Cancer risks other than female breast and ovarian cancers associated with BRCA1 and BRCA2 pathogenic variants.
3 Mar, 2022 | 08:14h | UTCCancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants – Journal of Clinical Oncology
Commentary: Faulty BRCA genes linked to prostate and pancreatic cancers – University of Cambridge
(Epi)genetic predisposing factors found in one-third of children diagnosed with Wilms tumor.
3 Mar, 2022 | 08:10h | UTC
Cohort Study: A polygenic risk score may improve risk stratification of coronary artery disease.
27 Feb, 2022 | 22:31h | UTCEditorial: Polygenic risk score: a tool ready for clinical use?
Related:
Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps.
Perspective: The Approach to Predictive Medicine that is Taking Genomics Research by Storm
Review: CRISPR in cancer biology and therapy.
27 Feb, 2022 | 22:27h | UTCCRISPR in cancer biology and therapy – Nature Reviews Cancer (if the link is paywalled, try this one)
Somatic Genomic Testing in Patients with Metastatic or Advanced Cancer: ASCO Provisional Clinical Opinion.
21 Feb, 2022 | 08:47h | UTC
How COVID-19 transformed genomics and changed the handling of disease outbreaks forever.
17 Feb, 2022 | 09:56h | UTC
Betibeglogene Autotemcel gene therapy for Non–beta0/beta0 Genotype beta-thalassemia.
13 Feb, 2022 | 21:46h | UTCBetibeglogene Autotemcel Gene Therapy for Non–β0/β0 Genotype β-Thalassemia – New England Journal of Medicine (link to abstract – $ for full-text)
Commentary on Twitter
Visual Abstract: Betibeglogene Autotemcel Gene Therapy for Non–β0/β0 Genotype β-Thalassemia. https://t.co/2GOCGxrruv pic.twitter.com/zLvuuuByXN
— NEJM (@NEJM) February 8, 2022
Study finds there is probably a high rate of underdiagnosed Fragile X Syndrome in the general population.
3 Feb, 2022 | 08:23h | UTCPrevalence of Underdiagnosed Fragile X Syndrome in 2 Health Systems – JAMA Network Open
Opinion | “The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice”.
26 Jan, 2022 | 01:52h | UTCCommentary: ‘Unproven and unethical’: experts warn against genetic embryo tests – The Guardian
Review: Genotypic and phenotypic characteristics of hereditary colorectal cancer.
26 Jan, 2022 | 01:16h | UTCGenotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer – Annals of Coloproctology
M-A: BRCA1 and BRCA2 pathogenic variants and prostate cancer risk.
25 Jan, 2022 | 09:01h | UTC
Review: Prostate cancer risk in men of differing genetic ancestry and approaches to disease screening and management in these groups.
25 Jan, 2022 | 08:59h | UTC
Outcome of patients with an ultralow-risk 70-gene signature in the MINDACT trial.
24 Jan, 2022 | 08:08h | UTCOutcome of Patients With an Ultralow-Risk 70-Gene Signature in the MINDACT Trial – Journal of Clinical Oncology (link to abstract – $ for full-text)
Related:
Commentary on Twitter:
In MINDACT, 15% of the pts (n=1000) had an ultra-low 70-gene signature. Although some had tumors >2 cm (20%) & were LN+ (20%), prognosis was outstanding
8-year DMFI 97%
8-year BCSS 99.6%Most of these patients received adj treatment. Did they need it?https://t.co/V9SH2StuQE
— Paolo Tarantino (@PTarantinoMD) January 22, 2022
M-A: In patients with acute coronary syndrome, a guided approach (i.e., platelet function or genetic testing) to P2Y12 inhibiting therapy may reduce major adverse cardiovascular events without increased risk of bleeding.
21 Jan, 2022 | 09:33h | UTCComparative effects of guided vs. potent P2Y12 inhibitor therapy in acute coronary syndrome: a network meta-analysis of 61 898 patients from 15 randomized trials – European Heart Journal (link to abstract – $ for full-text)
Commentary: Another Win for Guided P2Y12 Therapy in ACS: Meta-analysis – TCTMD
Commentary on Twitter
Comparative effects of guided vs. potent P2Y12 inhibitor therapy in acute coronary syndrome: a network meta-analysis of 61 898 patients from 15 randomized trials: read more in EHJ!https://t.co/oAehSfPVdt#cardiotwitter @ESC_Journals @escardio pic.twitter.com/AEuH7V6IkR
— EHJ Editor-in-Chief (@ehj_ed) December 23, 2021
The emergence, genomic diversity and global spread of SARS-CoV-2.
10 Dec, 2021 | 10:21h | UTCThe emergence, genomic diversity and global spread of SARS-CoV-2 – Nature
RCT: 21-Gene assay to inform chemotherapy benefit in node-positive breast cancer.
2 Dec, 2021 | 09:49h | UTC21-Gene Assay to Inform Chemotherapy Benefit in Node-Positive Breast Cancer – New England Journal of Medicine (link to abstract – $ for full-text)
Commentary on Twitter
Among postmenopausal women with HR–positive, HER2-negative breast cancer, 1-3 positive lymph nodes, and a 21-gene recurrence score of 25 or lower, 5-year invasive disease–free survival was similar whether they received endocrine or chemoendocrine therapy. https://t.co/aZLXBvSHHl pic.twitter.com/EBVnMkGHx4
— NEJM (@NEJM) December 2, 2021
Randomized Trial: Conventional in vitro fertilization resulted in a cumulative live-birth rate that was noninferior to live-birth rates with the addition of preimplantation genetic testing for aneuploidy.
28 Nov, 2021 | 21:14h | UTCLive Birth with or without Preimplantation Genetic Testing for Aneuploidy – New England Journal of Medicine (link to abstract – $ for full-text)
Commentary: New research casts fresh doubt on a common procedure that promises to increase the odds of IVF – STAT
International Consensus Statement on the diagnosis, multidisciplinary management, and lifelong care of individuals with achondroplasia.
28 Nov, 2021 | 21:16h | UTCInternational Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia – Nature Reviews Endocrinology (if the link is paywalled, try this one)
Commentary on Twitter
New content online: International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia https://t.co/sP3BbFsc5z pic.twitter.com/fR23dID0Hw
— Nature Reviews Endocrinology (@NatureRevEndo) November 26, 2021
Pro-Con Debate: Should all babies have their genome sequenced at birth?
19 Nov, 2021 | 10:19h | UTCShould all babies have their genome sequenced at birth? – The BMJ
Related:
Review: Genome sequencing as a diagnostic test.
Novel gene therapy for hemophilia A leads to sustained expression of clotting factor and reduced bleeding events.
19 Nov, 2021 | 10:25h | UTCOriginal Study: Multiyear Factor VIII Expression after AAV Gene Transfer for Hemophilia A – New England Journal of Medicine
Commentary on Twitter
3.5 years after therapy with factor VIII-containing adeno-associated virus, 16 of 18 men with hemophilia A had enough factor VIII expression that bleeding events were reduced to nearly zero and prophylaxis was discontinued. https://t.co/n3cPyjGDkn pic.twitter.com/vPyz0OmT1S
— NEJM (@NEJM) November 18, 2021
Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps.
17 Nov, 2021 | 08:19h | UTC
Commentary on Twitter
PRS scores are moving closer to widespread clinical use.
In our latest Perspective, a panel of experts in genetics, law, and ethics discuss recent advances and potential benefits, risks, and gaps. @ICDAbio @cristenw @minouye271 @umichCVC @Cambridge_Unihttps://t.co/ZBvBGy4XPr— Nature Medicine (@NatureMedicine) November 16, 2021