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Genetics

Clinical Trial Update | Long-term Givosiran treatment shows sustained acute hepatic porphyria symptom improvement

8 Aug, 2023 | 13:05h | UTC

Efficacy and safety of givosiran for acute hepatic porphyria: Final results of the randomized phase III ENVISION trial – Journal of Hepatology

Original Study: Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria – New England Journal of Medicine

 


Opinion | Regulating direct-to-consumer polygenic risk scores

7 Aug, 2023 | 14:59h | UTC

Regulating Direct-to-Consumer Polygenic Risk Scores – JAMA (free for a limited period)

 


Systematic Review | Rapamycin and rapalogs for tuberous sclerosis complex

25 Jul, 2023 | 13:43h | UTC

Rapamycin and rapalogs for tuberous sclerosis complex – Cochrane Library

 


Comparative Study | Genomic sequencing yields higher diagnostic results than targeted neonatal gene test in suspected genetic disorders

17 Jul, 2023 | 13:36h | UTC

Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder – JAMA (link to abstract – $ for full-text)

Author Interview: Genomic Sequencing for Ill Newborns – JAMA

News Release: Genome sequencing highly effective at diagnosing genetic disorders in newborns and infants – Tufts University

 

Commentary on Twitter (thread – click for more)

 


Impact of newborn screening on severe combined immunodeficiency survival: results from a 36-year longitudinal study

14 Jul, 2023 | 12:45h | UTC

Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium – The Lancet (link to abstract – $ for full-text)

News Release: Newborn screening facilitates early identification of infants with severe combined immunodeficiency – NIH/National Institute of Allergy and Infectious Diseases/News Medical

 

Commentary on Twitter

 


Case Series | Ambroxol therapy improves hematologic parameters in Gaucher disease patients

11 Jul, 2023 | 13:42h | UTC

Use of Ambroxol as Therapy for Gaucher Disease – JAMA Network Open

Editorial: Ambroxol as Therapy for Gaucher Disease—Ambitious but Ambivalent – JAMA Network Open

Commentary: Ambroxol Repurposing Improves Biochemical Markers in Gaucher Disease – HCP Live

 


Consensus Statement | Evaluation and management of deficiency of adenosine deaminase 2

30 Jun, 2023 | 14:53h | UTC

Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement – JAMA Network Open

Invited Commentary: Finding a Quorum in Deficiency of Adenosine Deaminase 2 Management – JAMA Network Open

 


Cohort Study | Coronary artery calcium score superior to polygenic score for CHD risk prediction

7 Jun, 2023 | 13:51h | UTC

Coronary Artery Calcium Score and Polygenic Risk Score for the Prediction of Coronary Heart Disease Events – JAMA (link to abstract – $ for full-text)

News Release: CT scan best at predicting heart disease risk in middle age: Scan beats genetics to gauge risk – Northwestern University

 


ASH 2023 Guidelines for management of venous thromboembolism | Thrombophilia testing

1 Jun, 2023 | 12:22h | UTC

American Society of Hematology 2023 Guidelines for Management of Venous Thromboembolism: Thrombophilia Testing – Blood Advances

 


RCT | Effectiveness of genotype-specific tricyclic antidepressant dosing in patients with major depressive disorder

23 May, 2023 | 12:52h | UTC

Effectiveness of Genotype-Specific Tricyclic Antidepressant Dosing in Patients With Major Depressive Disorder: A Randomized Clinical Trial – JAMA Network Open

 

Commentary on Twitter

 


Review | Hereditary colorectal, gastric, and pancreatic cancer

18 May, 2023 | 13:43h | UTC

Hereditary colorectal, gastric, and pancreatic cancer: comprehensive review – BJS Open

 

Commentary on Twitter

 


M-A | Quality of life after risk-reducing surgery for breast and ovarian cancer prevention

9 May, 2023 | 14:21h | UTC

Quality of life after risk-reducing surgery for breast and ovarian cancer prevention: a systematic review and meta-analysis – American Journal of Obstetrics and Gynecology

 


Review | Lynch syndrome genetics and clinical implications

4 May, 2023 | 13:24h | UTC

Lynch syndrome genetics and clinical implications – Gastroenterology

 


Cohort Study | Risk of multiple morbidities across the lifespan in people with Down syndrome or intellectual disabilities

28 Apr, 2023 | 13:19h | UTC

Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: a population-based cohort study using electronic health records – The Lancet Public Health

 

Commentary from the author on Twitter (thread – click for more)

 


Large-scale study finds genetic causes for 41% of rare pediatric diseases

18 Apr, 2023 | 13:25h | UTC

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland – New England Journal of Medicine (free for a limited period)

News Release: 5,500 people diagnosed with rare genetic diseases in major research study – University of Exeter

Commentary: Study endeavors to strengthen genomic diagnosis of rare pediatric diseases in the United Kingdom and Ireland – News Medical

 

Commentary on Twitter

 


Phase 2 RCT | Dersimelagon in erythropoietic protoporphyrias

17 Apr, 2023 | 13:05h | UTC

Dersimelagon in Erythropoietic Protoporphyrias – News England Journal of Medicine (link to abstract – $ for full-text)

 

Commentary on Twitter

 


Cohort Study | Cancer surveillance as an alternative to prophylactic total gastrectomy in hereditary diffuse gastric cancer

17 Apr, 2023 | 12:57h | UTC

Cancer surveillance as an alternative to prophylactic total gastrectomy in hereditary diffuse gastric cancer: a prospective cohort study – The Lancet Oncology (link to abstract – $ for full-text)

Commentary: Endoscopic Surveillance in Patients at Risk for Hereditary Diffuse Gastric Cancer – The ASCO Post

 


Cohort Study | Value of screening for the risk of sudden cardiac death in young competitive athletes

12 Apr, 2023 | 13:11h | UTC

Value of screening for the risk of sudden cardiac death in young competitive athletes – European Heart Journal

Editorial: Optimizing pre-participation screening to prevent tragedy in young athletes: moving from if to how – European Heart Journal

 


AAP Clinical Report | Health supervision for children and adolescents with Marfan syndrome

10 Apr, 2023 | 13:51h | UTC

Health Supervision for Children and Adolescents With Marfan Syndrome – Pediatrics

 

Commentary on Twitter

 


Review | Comprehensive care of women with genetic predisposition to breast and ovarian cancer

5 Apr, 2023 | 13:32h | UTC

Comprehensive Care of Women With Genetic Predisposition to Breast and Ovarian Cancer – Mayo Clinic Proceedings

 


Gastric Cancer: the combined impact of H. pylori infection and pathogenic gene variants

3 Apr, 2023 | 13:51h | UTC

Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer – New England Journal of Medicine (link to abstract – $ for full-text)

News Release: Helicobacter Pylori Infection Modifies the Risk of Gastric Cancer Associated with Germline Pathogenic Variants in Homologous Recombination Genes – ESMO

Commentary: H. Pylori Infection Negatively Modifies Genetically Increased Risk for Gastric Cancer – Physician’s Weekly

 

Commentary on Twitter

 


RCT | Efficacy and safety of garadacimab, a factor XIIa inhibitor for hereditary angioedema prevention

31 Mar, 2023 | 13:26h | UTC

Efficacy and safety of garadacimab, a factor XIIa inhibitor for hereditary angioedema prevention (VANGUARD): a global, multicentre, randomised, double-blind, placebo-controlled, phase 3 trial – The Lancet (link to abstract – $ for full-text)

 

Commentary on Twitter (thread – click for more)

 


SR | Extracutaneous features and complications of the Ehlers-Danlos syndromes

30 Mar, 2023 | 13:41h | UTC

Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review – Frontiers in Medicine

 


AHA Scientific Statement | Interpreting incidentally identified variants in genes associated with heritable cardiovascular disease

28 Mar, 2023 | 15:12h | UTC

Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association – Circulation: Genomic and Precision Medicine

News Release: Genetic tests unexpectedly find genes linked to heart disease — now what? – AHA Newsroom

 


Review | Gene Therapy for Hemophilia — Opportunities and Risks

21 Mar, 2023 | 13:25h | UTC

Gene Therapy for Hemophilia—Opportunities and Risks – Deutsches Ärzteblatt International

 


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