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Genetics

Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches

18 Jul, 2017 | 22:43h | UTC

Clinical 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 | UTC

Use of Biomarkers to Guide Decisions on Adjuvant Systemic Therapy for Women With Early-Stage Invasive Breast Cancer: American Society of Clinical Oncology Clinical Practice Guideline Focused Update (free)

Commentaries: 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 | UTC

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting – European Journal of Endocrinology (free)

Editorial: New international Turner syndrome guideline: a multi-society feat (free)

 


Hereditary pancreatic cancer: related syndromes and clinical perspective

16 Jul, 2017 | 23:35h | UTC

Clinical 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 | UTC

Concordance 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 | UTC

Review: 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

Review: Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies – Frontiers in Pediatrics (free)

 


Immunology, one cell at a time

4 Jul, 2017 | 21:13h | UTC

Immunology, 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 | UTC

Single-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 | UTC

The 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

 


New Natural Selection: How Scientists are Altering DNA to Genetically Engineer New Forms of Life

30 Jun, 2017 | 15:12h | UTC

New Natural Selection: How Scientists are Altering DNA to Genetically Engineer New Forms of Life – Newsweek (Free)

“What happens when you can write and edit genomes? Life 2.0? (RT @EricTopol see Tweet)

 


Precision Medicine: the Promise vs. the Reality

29 Jun, 2017 | 15:36h | UTC

Precision Medicine: the Promise vs. the Reality – Michigan University Health Lab (free) (RT @pash22 see Tweet)

“Scientists find great potential in using genetic sequencing to help direct targeted cancer therapy, but practicing oncologists see some important limitations”.

 


The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients

27 Jun, 2017 | 19:23h | UTC

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial – Annals of Internal Medicine (link to abstract – $ for full-text)

In healthy patients, genome sequencing raises alarms while offering few benefits – STAT News (free) AND Whole genome sequencing not ready for routine use: study – Reuters Health News (free) AND One in five ‘healthy’ adults may carry disease-related genetic mutations – Science (free) AND Whole-Genome Sequencing Possible in Clinic, but Value Unclear – Medscape (free registration required)

Whole-genome sequencing finds rare genetic disease risk in 1 of 5 healthy adults – ACP Internist Weekly (free)

“While some primary care physicians may be able to manage genomic information appropriately, findings could prompt increased health care use with limited clinical value, the researchers said” (from ACP)

 


Who will pay for CRISPR?

26 Jun, 2017 | 14:46h | UTC

Who will pay for CRISPR? – STAT News (free) (RT @EricTopol see Tweet)

Related: Crispr Offers a Leap Forward for Diagnosing Disease – The Wall Street Journal (a few articles per month are free) AND CRISPR will be a huge story in 2017. Here are 7 things to look for – VOX (free)

 


New concerns raised over value of genome-wide disease studies

25 Jun, 2017 | 14:00h | UTC

New concerns raised over value of genome-wide disease studies – Nature News (free)

“Large analyses dredge up ‘peripheral’ genetic associations that offer little biological insight, researchers say”.

 


What happens when an expensive drug is approved based on a lower bar of proof?

25 Jun, 2017 | 13:50h | UTC

Insurers Battle Families Over Costly Drug for Fatal Disease – The New York Times (10 articles per month are free)

“A new drug can cost over a million dollars, even though it’s unclear if it works. Now, insurers are refusing to pay” (RT @NYTHealth see Tweet)

 


Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

21 Jun, 2017 | 02:16h | UTC

Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers – JAMA (link to abstract – $ for full-text)

The JAMA Network – For the media: Study Estimates Age-Specific Overall Risk of Breast, Ovarian Cancer among Women with BRCA1/2 Genetic Mutations (free)

Commentary: Risk for Breast and Ovarian Cancer in BRCA1 and BRCA2 Mutation Carriers: Refining Our Estimates – Physician’s First Watch (free)

 


The human genome was never completely sequenced

21 Jun, 2017 | 02:03h | UTC

Psst, the human genome was never completely sequenced. Some scientists say it should be – STAT News (free)

 


‘Not everyone wants to know’: Warnings over genetic tests

20 Jun, 2017 | 12:12h | UTC

‘Not everyone wants to know’: Warnings over genetic tests – SBS (free) (RT @pash22 see Tweet)

See more on direct-to-consumer genetic testing in our May 29th issue, see #3.

 


What If (Almost) Every Gene Affects (Almost) Everything?

19 Jun, 2017 | 12:56h | UTC

What If (Almost) Every Gene Affects (Almost) Everything? – The Atlantic (free) (RT @AllenFrancesMD see Tweet)

 


No Shortcuts on the Long Road to Evidence-Based Genomic Medicine

2 Jun, 2017 | 18:36h | UTC

Viewpoint: No Shortcuts on the Long Road to Evidence-Based Genomic Medicine – JAMA (free)

“The need for evidence in genomic medicine is more important than ever” (RT @JAMA_current see Tweet)

 


The Paternal Epigenome Makes Its Mark

6 May, 2017 | 20:38h | UTC

Medical News & Perspectives: The Paternal Epigenome Makes Its Mark – JAMA (free)

Related: Influence of paternal preconception exposures on their offspring: through epigenetics to phenotype – American Journal of Stem Cells (free)

“Epigenetic changes may be the underlying mechanism by which paternal factors such as age, diet, weight, stress, and alcohol consumption contribute to a range of health outcomes in offspring including birth defects, behavioral problems, developmental disorders, obesity, diabetes, cardiovascular disease, and cancer”.

 


F.D.A. Will Allow 23andMe to Sell Genetic Tests for Disease Risk to Consumers

10 Apr, 2017 | 16:03h | UTC

F.D.A. Will Allow 23andMe to Sell Genetic Tests for Disease Risk to Consumers – The New York Times (10 articles per month are free)

See also: Before you send your spit to 23andMe, what you need to know – STAT News (free) AND 23andMe given green light to sell DNA tests for 10 diseases – Nature News (free) AND 23andMe Rides Again: FDA Clears Genetic Tests To Predict Disease Risk – Forbes (free) AND Too Much Information? FDA Clears 23AndMe to Sell Home Genetic Tests for Alzheimer’s and Parkinson’s – Scientific American (free)

“The controversial step will significantly expand direct-to-consumer testing – but what if the news is bad?” (from Scientific American above)

 


Genetic assessment of age-associated Alzheimer disease risk

23 Mar, 2017 | 17:01h | UTC

Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score – PLOS Medicine (free) (RT @EricTopol see Tweet)

See also: New Alzheimer’s test can predict age when disease will appear – The Guardian (free)

*Very interesting, but do we want to know?*

 


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