Genetics
Review: Epigenetics in congenital heart disease.
8 Apr, 2022 | 10:12h | UTCEpigenetics in Congenital Heart Disease – Journal of the American Heart Association
Review: Myocardial inflammation and sudden death in the inherited cardiomyopathies.
8 Apr, 2022 | 09:46h | UTC
RCT: Effect of different corticosteroid dosing regimens on clinical outcomes in boys with Duchenne Muscular Dystrophy.
7 Apr, 2022 | 08:53h | UTCEffect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial – JAMA (free for a limited period)
Related:
RCT: Routine lung volume recruitment is not beneficial for boys with Duchenne muscular dystrophy.
Research: Long-term effects of glucocorticoids in patients with Duchenne muscular dystrophy
Commentary on Twitter
In this randomized clinical trial of boys with Duchenne muscular dystrophy, treatment with daily #prednisone or daily #deflazacort resulted in significantly better outcomes compared with intermittent prednisone. https://t.co/rKjSrjVemR #AAN2022 pic.twitter.com/qPNV9KBOXv
— JAMA (@JAMA_current) April 5, 2022
Recommendations for reporting results of diagnostic genomic testing.
7 Apr, 2022 | 08:02h | UTC
Expert Consensus Statement on the state of genetic testing for cardiac diseases.
5 Apr, 2022 | 08:31h | UTCNews Release: Recommendations on genetic testing for inherited cardiac diseases published today – European Society of Cardiology
Commentary on Twitter
#EHRA_ESC/Heart Rhythm Society/Asia Pacific Heart Rhythm Society/Latin American Heart Rhythm Society Expert Consensus Statement on the state of genetic testing for cardiac diseases: https://t.co/CLL5EEuK6z#Europace #EHRA2022 @GerdHindricks @ABollmannMD #EPeeps #cardiotwitter pic.twitter.com/3hz4o5ynDh
— European Society of Cardiology Journals (@ESC_Journals) April 4, 2022
Researchers generate the first complete, gapless sequence of a human genome.
4 Apr, 2022 | 01:30h | UTCNews Release: Researchers generate the first complete, gapless sequence of a human genome – NIH News Releases
Original Study: The complete sequence of a human genome – Science
Commentaries:
Scientists sequence the complete human genome for the first time – CNN
First complete gap-free human genome sequence published – The Guardian
Scientists finally finish decoding entire human genome – Associated Press
Genetic testing identified a disease-causing variant in 10% of unexplained cardiac arrest survivors.
1 Apr, 2022 | 08:47h | UTCImportance of genetic testing in cardiac arrest – European Heart Journal
Commentary on Twitter
?Importance of genetic testing in unexplained cardiac arrest (UCA)
♦️Genetic testing identifies a disease-causing variant in ?% of UCA
♦️Majority of variants located in genes associated with cardiomyopathy in absence of a diagnosis#CardioTwitter
?https://t.co/tLcqeDPx1S pic.twitter.com/rTbN1W86oa
— ?????????? ??? ????? (@BenSaaud) March 30, 2022
WHO Global genomic surveillance strategy for pathogens with pandemic and epidemic potential 2022–2032.
31 Mar, 2022 | 08:45h | UTCNews Release: WHO releases 10-year strategy for genomic surveillance of pathogens – World Health Organization
Commentary on Twitter (thread – click for more)
? Today @WHO published the Global Genomic Surveillance Strategy for Pathogens with Pandemic and Epidemic Potential (2022–2032)
Ambitious, comprehensive, strategic and necessary.
Short thread ⬇️https://t.co/98NMgMhbL6
— Maria Van Kerkhove (@mvankerkhove) March 30, 2022
Phase 2 RCT: Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy.
22 Mar, 2022 | 07:59h | UTC
Commentary on Twitter
In patients with late-stage Duchenne muscular dystrophy, CAP-1002 cell therapy appears safe & effective in reducing deterioration of upper limb & cardiac function, trial suggests. Longer-term extension studies needed.
Explore full findings: https://t.co/bCLtsbuJH3 pic.twitter.com/h7vareAMC7
— The Lancet (@TheLancet) March 21, 2022
Rapid point-of-care genotyping to avoid aminoglycoside-induced ototoxicity in neonatal intensive care.
22 Mar, 2022 | 08:01h | UTCEditorial: Genetic Testing in Newborns Moves From Rare to Routine Application
Commentary on Twitter
The MT-RNR1 m.1555A>G variant predisposes to profound aminoglycoside-induced ototoxicity
The MT-RNR1 POCT was able to genotype the m.1555A>G variant in 26 minutes. #IDTwitter #medtwitter #TwitteRx #MedEd #PIDTwitter https://t.co/BbkpNMiNHN— Antibiotic Steward Bassam Ghanem (@ABsteward) March 21, 2022
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