Genetics & Rare Diseases
Gene Editing Using CRISPR: Why the Excitement?
15 Aug, 2017 | 21:08h | UTCViewpoint: Gene Editing Using CRISPR: Why the Excitement? – JAMA (free)
Genetic counseling works as well over the phone as in person, study finds
15 Aug, 2017 | 20:35h | UTCGenetic counseling works as well over the phone as in person, study finds – STAT (free)
Related commentary: Telemedicine OK for Genetic Testing and Counseling – MedPage Today (free registration required)
Gene-edited embryos are exciting, but the truly urgent conversations concern genomic medicine
15 Aug, 2017 | 19:34h | UTCCommit to talks on patient data and public health – Nature News (free)
“unlike gene-edited infants, which are still years away, genomic medicine is with us now” (RT @NatureNews see Tweet)
11 Organizations Urge Cautious but Proactive Approach to Gene Editing
11 Aug, 2017 | 15:50h | UTCPosition Statement: Human Germline Genome Editing – American Society of Human Genetics (free)
News Release: 11 Organizations Urge Cautious but Proactive Approach to Gene Editing
Commentaries: International Genetics Groups Call for Cautious Approach to Gene Editing – Physician’s First Watch (free)
Use of Molecular Tools to Identify Patients With Indolent Breast Cancers With Ultralow Risk
8 Aug, 2017 | 00:19h | UTCUse of Molecular Tools to Identify Patients With Indolent Breast Cancers With Ultralow Risk Over 2 Decades – JAMA Oncology (link to abstract – $ for full-text)
Commentaries: ‘Ultralow-Risk’ Breast Cancers Can Skip Endocrine Therapy – Medscape (free registration required) AND Tumor Test Helps Identify Which Breast Cancers Don’t Require Extra Treatment – NPR (free)
Simple guide to CRISPR
7 Aug, 2017 | 21:57h | UTCSimple guide to CRISPR, one of the biggest science stories of the decade – VOX (free) (RT @Students4BE see Tweet)
Genetic testing threatens the insurance industry
5 Aug, 2017 | 15:04h | UTCGenetic testing threatens the insurance industry – The Economist (a few articles per month are free)
“Insurers worry about adverse selection; the insured worry about discrimination”
Correction of a pathogenic gene mutation in human embryos
3 Aug, 2017 | 14:02h | UTCCorrection of a pathogenic gene mutation in human embryos – Nature (free)
Nature News & Views: Biotechnology: At the heart of gene edits in human embryos (free)
Commentaries: Embryo Gene-Editing Experiment Reignites Ethical Debate – Scientific American (free) AND Scientists successfully used CRISPR to fix a mutation that causes disease. This is huge – VOX (free) AND U.S. scientists edit genome of human embryo, but cast doubt on possibility of ‘designer babies’ – STAT (free) AND Human embryos edited to stop disease – BBC (free) AND In Breakthrough, Scientists Edit a Dangerous Mutation From Genes in Human Embryos – The New York Times (10 articles per month are free)
The genetic background of acromegaly
1 Aug, 2017 | 17:14h | UTCReview: The genetic background of acromegaly – Pituitary (free)
Diagnostic approaches for inherited hemolytic anemia in the genetic era
1 Aug, 2017 | 17:07h | UTCReview: Diagnostic approaches for inherited hemolytic anemia in the genetic era – Blood Research (free)
Human Genome Editing: Science, Ethics, and Governance
27 Jul, 2017 | 16:43h | UTCReport: Human Genome Editing: Science, Ethics, and Governance (2017) – The National Academies Press (free)
The trouble with genetic testing
23 Jul, 2017 | 23:29h | UTC‘We are all mutants now’: the trouble with genetic testing – The Guardian (free) (RT @EricTopol see Tweet)
Related: The uncertain future of genetic testing – Mosaic (free)
“With so many unknowns in our DNA, using genetics in medical testing doesn’t always bring the answers – sometimes it brings only doubt”.
Development and Validation of the PREMM5 Model for Comprehensive Risk Assessment of Lynch Syndrome
23 Jul, 2017 | 19:02h | UTCCommentary: PREMM5 Model for Comprehensive Risk Assessment of Lynch Syndrome – PracticeUpdate (free registration required)
The Uncertain Future of Genetic Testing
21 Jul, 2017 | 17:38h | UTCThe Uncertain Future of Genetic Testing – The Atlantic (free)
“Bringing genetics into medicine leads to more accuracy, better diagnosis, and personalized treatment—but for some, gene testing has only resulted in unanswered questions”.
Enabling Precision Medicine: The Role of Genetics in Clinical Drug Development
18 Jul, 2017 | 22:56h | UTC
Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches
18 Jul, 2017 | 22:43h | UTCClinical Review: Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches – International Journal of Molecular Sciences (free)
Use of Biomarkers to Guide Decisions on Adjuvant Systemic Therapy for Women With Early-Stage Invasive Breast Cancer
17 Jul, 2017 | 00:52h | UTCCommentaries: ASCO Adds MammaPrint to Breast Cancer Guideline (free registration required) AND ASCO Panel Backs Gene Assay for Breast Cancer – MedPage Today (free registration required) AND MammaPrint Test Addressed in ASCO Breast Cancer Guideline Update – ASCO Post (free)
See also other Brest Cancer Guidelines from ASCO.
Clinical practice guidelines for the care of girls and women with Turner syndrome
17 Jul, 2017 | 00:51h | UTCEditorial: New international Turner syndrome guideline: a multi-society feat (free)
Hereditary pancreatic cancer: related syndromes and clinical perspective
16 Jul, 2017 | 23:35h | UTCClinical Review: Hereditary pancreatic cancer: related syndromes and clinical perspective – Hereditary Cancer in Clinical Practice (free)
Concordance of autoimmune disease in a systemic lupus erythematosus twin cohort
11 Jul, 2017 | 16:57h | UTCConcordance of autoimmune disease in a nationwide danish systemic lupus erythematosus twin cohort – Seminars in Arthritis and Rheumatism (link to abstract – $ for full-text)
Commentary: SLE Concordance in Twins Lower than Previously Reported – MedPage Today (free registration required)
Genetic and epigenetic control of gene expression by CRISPR-Cas systems
7 Jul, 2017 | 13:39h | UTCReview: Genetic and epigenetic control of gene expression by CRISPR-Cas systems – F1000 Research (free)
Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies
7 Jul, 2017 | 13:32h | UTC
Immunology, one cell at a time
4 Jul, 2017 | 21:13h | UTCImmunology, one cell at a time – Nature News (free)
“Analysing the DNA, RNA and protein of single cells is transforming our understanding of the immune system, say Amir Giladi and Ido Amit”.
Single-cell sequencing made simple
4 Jul, 2017 | 21:14h | UTCSingle-cell sequencing made simple – Nature News (free)
“Data from thousands of single cells can be tricky to analyse, but software advances are making it easier”.
The Brave New World of Gene Editing
3 Jul, 2017 | 17:23h | UTCThe Brave New World of Gene Editing – The New York Review of Books (free)
“In reviewing 3 recent books, @matthewcobb provides exceptional genomics perspective, especially on #CRISPR”