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Genetics

Copenhagen Consensus statement 2019: Physical Activity and Ageing

3 May, 2019 | 07:17h | UTC

Copenhagen Consensus statement 2019: physical activity and ageing – British Journal of Sports Medicine (free)

 


Experimental Gene Therapy Frees ‘Bubble-boy’ Babies From a Life of Isolation

22 Apr, 2019 | 01:48h | UTC

Experimental gene therapy frees ‘bubble-boy’ babies from a life of isolation – Nature (free)

Original Article: Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1 – New England Journal of Medicine (link to abstract – $ for full-text)

 


What Are Polygenic Scores and Why Are They Important?

10 Apr, 2019 | 06:04h | UTC

What Are Polygenic Scores and Why Are They Important? – JAMA (free for a limited period)

Related: How Scientists are Learning to Predict Your Future with Your Genes (free)

“Before polygenic scores can be translated into clinical practice they will need to be extensively validated in clinical and population-based cohorts for their ability to predict meaningful outcomes that can be modified with intervention.”

 


Consensus Recommendations: Management of Fabry Disease in Pediatric Patients

4 Apr, 2019 | 12:28h | UTC

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients – Clinical Genetics (free PDF)

 


WHO Expert Panel Paves Way for Strong International Governance on Human Genome Editing

21 Mar, 2019 | 07:18h | UTC

WHO expert panel paves way for strong international governance on human genome editing – World Health Organization (free)

Commentaries: World Health Organization advisers call for registry of studies on human genome editing – STAT (free) AND W.H.O. Panel Demands a Registry for Human Gene Editing – The New York Times (10 articles per month are free) AND World Health Organization panel weighs in on CRISPR-babies debate – Nature (free)

 


Scientists Call for a Moratorium on Creating Genome Edited Babies

15 Mar, 2019 | 02:10h | UTC

Adopt a moratorium on heritable genome editing – Nature (free)

Editorial: Germline gene-editing research needs rules (free)

Commentaries: Leading scientists, backed by NIH, call for a global moratorium on creating ‘CRISPR babies’ – STAT (free) AND Expert reaction to a call for a moratorium on heritable genome editing – Science Media Centre (free)

Related: Genome-Edited Baby Provokes International Outcry (free commentaries) AND Consensus Statement on the Reported Birth of Genome-Edited Babies in China (free)

 


Podcast: Genetic Testing in Primary Care

18 Feb, 2019 | 17:01h | UTC

#139 Genetic Testing in Primary Care – The Curbsiders Internal Medicine Podcast (free audio)

 


Embryo Editing for Higher IQ is a Fantasy. Embryo Profiling for it is Almost Here

16 Feb, 2019 | 19:56h | UTC

Embryo editing for higher IQ is a fantasy. Embryo profiling for it is almost here – STAT (free)

 


NYT Editorial: Why You Should Be Careful About 23andMe’s Health Test

4 Feb, 2019 | 22:08h | UTC

Editorial: Why You Should Be Careful About 23andMe’s Health Test – The New York Times (free)

 


Perspective: Promises, Promises, and Precision Medicine

30 Jan, 2019 | 00:56h | UTC

Promises, promises, and precision medicine – JCI: The Journal of Clinical Investigation (free)

Related: Representing a “revolution”: how the popular press has portrayed personalized medicine – Genetics in Medicine (free)

“Hype vs. reality. Vast disconnect between actual achievements of “precision medicine” and how portrayed in popular culture” (via @CaulfieldTim see Tweet)

 

Related Commentary on Twitter

 


Review: Management of Autosomal-dominant Polycystic Kidney Disease

15 Jan, 2019 | 00:12h | UTC

Management of autosomal-dominant polycystic kidney disease—state-of-the-art – Clinical Kidney Journal (free)

 


Study: Identifying Facial Phenotypes of Genetic Disorders Using Deep Learning

8 Jan, 2019 | 12:01h | UTC

Identifying facial phenotypes of genetic disorders using deep learning – Nature Medicine (link to abstract – $ for full-text)

Commentaries: AI face-scanning app spots signs of rare genetic disorders – Nature News (free) AND Artificial intelligence could diagnose rare disorders using just a photo of a face – Science Magazine (free)

 


Consensus: Care Recommendations for Adults with Myotonic Dystrophy Type 1

4 Jan, 2019 | 18:29h | UTC

Consensus-based care recommendations for adults with myotonic dystrophy type 1 – Neurology Clinical Practice (free PDF)

 


Review: Genetic Diagnosis of Endocrine Diseases by NGS

13 Dec, 2018 | 18:57h | UTC

Genetic diagnosis of endocrine diseases by NGS: novel scenarios and unpredictable results and risks – European Journal of Endocrinology (free)

 


Review: Biochemical and Clinical Aspects of Glycogen Storage Diseases

13 Dec, 2018 | 18:46h | UTC

Biochemical and clinical aspects of glycogen storage diseases – Journal of Endocrinology (free)

 


Consensus Statement on the Reported Birth of Genome-Edited Babies in China

13 Dec, 2018 | 18:03h | UTC

Consensus Statement of European Societies of Gene and Cell Therapy on the Reported Birth of Genome-Edited Babies in China – Human Gene Therapy (free)

 


Perspective: The Ethics of Heritable Genome Editing

5 Dec, 2018 | 00:03h | UTC

The Ethics of Heritable Genome Editing: New Considerations in a Controversial Area JAMA (free for a limited period)

Related: WHO looks at standards in ‘uncharted water’ of gene editing – Reuters (free) AND The CRISPR Baby Scandal Gets Worse by the Day – The Atlantic (free) AND We need a temporary moratorium on using gene editing to create babies – STAT (free) AND Is the CRISPR baby controversy the start of a terrifying new chapter in gene editing? – VOX (free) AND First CRISPR babies: six questions that remain – Nature (free) AND ‘I feel an obligation to be balanced.’ Noted biologist comes to defense of gene editing babies – Science (free)

 


Genome-Edited Baby Provokes International Outcry

30 Nov, 2018 | 02:02h | UTC

Genome-edited baby claim provokes international outcry – Nature (free)

See also: A Reckless and Needless Use of Gene-Editing on Human Embryos – The Atlantic (free) AND Chinese researcher claims first gene-edited babies – Associated Press (free) AND EXCLUSIVE: Chinese scientists are creating CRISPR babies – MIT Technology Review (free) AND Expert reaction to reports of the first genome edited baby – Science Media Centre (free) AND What we know — and what we don’t — about the claim of world’s first gene-edited babies – STAT (free)

 


Guideline: Diagnosis of Primary Ciliary Dyskinesia

20 Nov, 2018 | 15:21h | UTC

Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline – American Journal of Respiratory and Critical Care Medicine (free)

 


Cohort Study: A Healthy Lifestyle Cuts Stroke Risk, Irrespective of Genetic Risk

2 Nov, 2018 | 02:41h | UTC

Genetic risk, incident stroke, and the benefits of adhering to a healthy lifestyle: cohort study of 306 473 UK Biobank participants – The BMJ (free)

Commentary: A healthy lifestyle cuts stroke risk, irrespective of genetic risk – University of Cambridge (free)

 


Study: Using Genetic Databases to Identify People

16 Oct, 2018 | 23:18h | UTC

Identity inference of genomic data using long-range familial searches – Science (free for a limited period)

Commentaries: Most White Americans’ DNA Can Be Identified Through Genealogy Databases – The New York Times (10 articles per month are free) AND How an Unlikely Family History Website Transformed Cold Case Investigations – The New York Times (10 articles per month are free) AND ‘We are increasingly exposed’: New studies show how easy it is to identify people using genetic databases – STAT (free) AND Supercharged crime-scene DNA analysis sparks privacy concerns – Nature (free)

 


Perspective: The Approach to Predictive Medicine that is Taking Genomics Research by Storm

12 Oct, 2018 | 01:49h | UTC

The approach to predictive medicine that is taking genomics research by storm – Nature (free)

“Polygenic risk scores represent a giant leap for gene-based diagnostic tests. Here’s why they’re still so controversial.”

 


Study: Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults

11 Oct, 2018 | 21:32h | UTC

Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults: Implications for Primary Prevention – Journal of the American College of Cardiology (via @EricTopol)

 


Guideline: Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency

5 Oct, 2018 | 02:27h | UTC

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline – Journal of Clinical Endocrinology and Metabolism (free PDF)

News Release: Managing congenital adrenal hyperplasia requires shared decisions among patients, families, and heal – The Endocrine Society (free)

 


AHA Guideline: Cardiovascular Health in Turner Syndrome

28 Sep, 2018 | 01:05h | UTC

Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association – Circulation: Genomic and Precision Medicine (free)

Commentary: Cardiovascular Health in Turner Syndrome – No Small Task (free)

Top Ten Things to Know: Cardiovascular Health in Turner Syndrome (free PDF)

 


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