Genetics & Rare Diseases
ASCO 2018: Many Women with Early-Stage Breast Cancer Can Forgo Chemotherapy When Guided by a 21-Gene Expression Assay
7 Jun, 2018 | 02:23h | UTCCommentaries: 2018 ASCO: TAILORx: Most Women With Early-Stage Breast Cancer Can Forgo Chemotherapy When Guided by a Diagnostic Test – The ASCO Post (free) AND Many breast cancer patients can skip chemo, big study finds – STAT (free) AND Many women with early-stage breast cancer can skip chemotherapy: study – Reuters (free) AND For Some Breast Cancer Patients, The Chemo Decision Just Got Easier – NPR (free) AND Breast cancer: Test means fewer women will need chemotherapy – BBC (free) AND Good News for Women With Breast Cancer: Many Don’t Need Chemo – The New York Times (10 articles per month are free)
ASCO 2018: Matching Treatment to Genetic Changes in the Tumor Improves Survival Across Multiple Cancer Types
6 Jun, 2018 | 21:31h | UTC
New Therapy Assessed for Children with X-Linked Hypophosphatemia
29 May, 2018 | 18:27h | UTCBurosumab Therapy in Children with X-Linked Hypophosphatemia – New England Journal of Medicine (link to abstract – $ for full-text)
Quick Take Video Summary: Burosumab for X-Linked Hypophosphatemia (free)
Perspective: Can Genetic Counselors Keep Up With 23andMe?
28 May, 2018 | 12:29h | UTCCan Genetic Counselors Keep Up With 23andMe? – The Atlantic (free)
Perspective: p53 and Me
24 May, 2018 | 22:58h | UTCp53 and Me – New England Journal of Medicine (free)
Randomized Controlled Trial: Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes
23 May, 2018 | 12:13h | UTCCanakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes – New England Journal of Medicine (link to abstract – $ for full-text)
Commentary: Autoinflammatory Syndromes Show Dramatic Response to Canakinumab – RheumNow (free)
Guideline: Clinical Management of Niemann-Pick Disease Type C
21 May, 2018 | 13:06h | UTCSource: New Clinical Practice Guidelines, May 2018 Edition – Medscape (free registration required)
Opinion: Implications of Direct-to-Consumer Genetic Testing for BRCA Mutation
21 May, 2018 | 13:05h | UTCDirect-to-Consumer Genetic Testing: The Implications of the US FDA’s First Marketing Authorization for BRCA Mutation Testing – JAMA (free for a limited period)
Perspective: Can the U.S. Get 1 Million People to Volunteer Their Genomes?
4 May, 2018 | 01:45h | UTCCan the U.S. Get 1 Million People to Volunteer Their Genomes? – Scientific American (free)
Source: Global Health NOW Newsletter
Viewpoint: In the Era of Precision Medicine and Big Data, Who Is Normal?
3 May, 2018 | 20:02h | UTCViewpoint: In the Era of Precision Medicine and Big Data, Who Is Normal? – JAMA (free for a limited period)
Study Identifies 44 Genetic Risk Factors for Depression
27 Apr, 2018 | 01:15h | UTCGenome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression – Nature Genetics (link to abstract – $ for full-text)
Commentaries: Unprecedented study identifies 44 genetic risk factors for major depression – King’s College London, via MedicalXpress (free) AND ‘Gene map for depression’ sparks hopes of new generation of treatments – The Guardian (free) AND Global study finds 44 genetic risk factors for major depression – Reuters (free)
Perspective: In the Era of Precision Medicine and Big Data, Who Is Normal?
25 Apr, 2018 | 13:44h | UTCIn the Era of Precision Medicine and Big Data, Who Is Normal? – JAMA (free for a limited period)
Research :Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia
20 Apr, 2018 | 01:57h | UTCGene Therapy in Patients with Transfusion-Dependent β-Thalassemia – New England Journal of Medicine (free)
Editorial: Gene Therapy as a Curative Option for β-Thalassemia (free)
Quick Take Video Summary: LentiGlobin Gene Therapy for β-Thalassemia (free)
Commentaries: Gene therapy could free some people from a lifetime of blood transfusions – MIT Technology Review (free) AND Gene Therapy For Inherited Blood Disorder Reduced Transfusions – NPR (free) AND Expert reaction to study on gene therapy for beta-thalassaemia – Science Media Centre (free)
Parenting of the future: Many embryos, each with DNA profile
20 Apr, 2018 | 00:57h | UTCParenting of the future: Many embryos, each with DNA profile – Associated Press (free)
Perspective: the rise of the genetic risk score in cardiovascular disease
3 Apr, 2018 | 16:03h | UTCCardiovascular disease: The rise of the genetic risk score – PLOS Medicine (free) (via @EricTopol see Tweet)
Perspective: the struggle to build a massive ‘biobank’ of patient data
3 Apr, 2018 | 15:59h | UTCThe Struggle to Build a Massive ‘Biobank’ of Patient Data – The New York Times (10 articles per month are free)
The Struggle to Build a Massive ‘Biobank’ of Patient Data
30 Mar, 2018 | 03:11h | UTCThe Struggle to Build a Massive ‘Biobank’ of Patient Data – The New York Times (10 articles per month are free)
Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings
30 Mar, 2018 | 03:05h | UTCShort-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial – Genetics in Medicine (free PDF for a limited period)
Commentary: Sequencing patients’ genomes might not break the health care bank, study finds – STAT News (free)
Viewpoint: Precision Medicine, Genome Sequencing, and Improved Population Health
22 Mar, 2018 | 23:41h | UTCViewpoint: Precision Medicine, Genome Sequencing, and Improved Population Health – JAMA (free for a limited period)
Opinion: At-home genetic testing may be convenient, but it isn’t complete
16 Mar, 2018 | 01:27h | UTCAt-home genetic testing may be convenient, but it isn’t complete – STAT (free)
Crispr gene editing ready for testing in humans
16 Mar, 2018 | 01:19h | UTCCrispr gene editing ready for testing in humans – Financial Times (free for a limited period)
Source: Medical Futurist Newsletter
With new CRISPR inventions, its pioneers say, you ain’t seen nothin’ yet
1 Mar, 2018 | 22:04h | UTCWith new CRISPR inventions, its pioneers say, you ain’t seen nothin’ yet – STAT (free)
Recommendations for the detection and diagnosis of Niemann-Pick disease type C
1 Mar, 2018 | 21:56h | UTC
Research: Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy
22 Feb, 2018 | 22:50h | UTCGenetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy – Journal of the American College of Cardiology (link to abstract – $ for full-text)
Commentary: Noncompaction Cardiomyopathy Outcomes – American College of Cardiology, Latest in Cardiology (free)
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants
22 Feb, 2018 | 21:42h | UTCCommentaries: Cracks in the code: Why mapping your DNA may be less reliable than you think – The Globe and Mail (free) AND Genomics has entered its adolescent phase: messy and unpredictable – The Globe and Mail (free) AND University of Toronto News (free)