Genetics & Rare Diseases
Review: Management of Autosomal-dominant Polycystic Kidney Disease
15 Jan, 2019 | 00:12h | UTC
Study: Identifying Facial Phenotypes of Genetic Disorders Using Deep Learning
8 Jan, 2019 | 12:01h | UTCIdentifying 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
Review: Genetic Diagnosis of Endocrine Diseases by NGS
13 Dec, 2018 | 18:57h | UTC
Review: Biochemical and Clinical Aspects of Glycogen Storage Diseases
13 Dec, 2018 | 18:46h | UTCBiochemical 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
Perspective: The Ethics of Heritable Genome Editing
5 Dec, 2018 | 00:03h | UTCThe 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 | UTCGenome-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
Cohort Study: A Healthy Lifestyle Cuts Stroke Risk, Irrespective of Genetic Risk
2 Nov, 2018 | 02:41h | UTCCommentary: 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 | UTCIdentity 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 | UTCThe 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 | UTCGenomic 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 | UTCNews 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 | UTCCommentary: Cardiovascular Health in Turner Syndrome – No Small Task (free)
Top Ten Things to Know: Cardiovascular Health in Turner Syndrome (free PDF)
Cohort Study: Risk of Dementia by Age, Sex and APOE Genotype
27 Sep, 2018 | 22:20h | UTC
Study: Genetic Analysis of Over 1 million People Identifies 535 Genes Associated with Blood Pressure Traits
21 Sep, 2018 | 02:05h | UTCGenetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits – Nature Genetics (link to abstract – $ for full-text)
Commentaries: World’s biggest study of blood pressure genetics – Queen Mary University of London (free) AND Researchers find 535 new gene regions that influence blood pressure – UPI (free) AND High blood pressure breakthrough: Over 500 genes uncovered – Medical News Today (free)
Review: Why, When and How to Investigate Primary Ciliary Dyskinesia in Adult Patients with Bronchiectasis
2 Sep, 2018 | 02:07h | UTC
Review: When and How Ruling out Cystic Fibrosis in Adult Patients with Bronchiectasis
2 Sep, 2018 | 02:06h | UTC
Perspective: How Scientists are Learning to Predict Your Future with Your Genes
23 Aug, 2018 | 23:51h | UTCHow scientists are learning to predict your future with your genes – VOX (free) (via @EricTopol)
“There’s not one light switch but hundreds, each with the ability to slightly increase or decrease the chances of developing the illness.”
Study: Polygenic Scores for Common Diseases Identify Individuals with Risk Equivalent to Monogenic Mutations
17 Aug, 2018 | 02:09h | UTCGenome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations – Nature Genetics (link to abstract – $ for full-text)
Commentaries: Researchers predict risk for common deadly diseases from millions of genetic variants – Broad Institute of MIT and Harvard, ScienceDaily (free) AND Clues to Your Health Are Hidden at 6.6 Million Spots in Your DNA – The New York Times (10 articles per month are free) AND Multi-gene test may find risk for heart disease and more – Associated Press (free) AND A Harvard Scientist Thinks He Has a Gene Test for Heart Attack Risk. He Wants to Give It Away Free – Forbes (free)
Review: Genetic Testing and Counseling After Sudden Cardiac Death
16 Aug, 2018 | 23:06h | UTC
Consensus: Diagnosis and Follow-up of Patients with Hunter Syndrome
26 Jul, 2018 | 17:35h | UTCDiagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus – Medicine (free)
CRISPR: Edited Cells Might Cause Cancer, Find Two Studies
15 Jun, 2018 | 01:48h | UTCA serious new hurdle for CRISPR: Edited cells might cause cancer, find two studies – STAT (free)
Related: Genome-editing tool could increase cancer risk – eCancer News (free) AND Gene editing tool may raise cancer risk in cells, scientists warn – Reuters (free) AND Expert reaction to using CRISPR/Cas9 and potential cancer risk in cells – Science Media Centre (free)
Perspective: Scientists Can Design ‘Better’ Babies. Should They?
15 Jun, 2018 | 01:10h | UTCScientists Can Design ‘Better’ Babies. Should They? – The New York Times (10 articles per month are free)