Genomics & Health Impact Update
Volume 32 Number 16 April 24 - May 1, 2014About the Update
Features of the Week
Metabolomics Conference- Advances & Applications in Human Disease
May 22-23, 2014 ~ Cambridge, MA
Discretionary Advisory Committee on Heritable Disorders in Newborns and Children
May 29-30, 2014 ~ Washington, DC
Molecular Diagnostics for Infectious Disease
August 20-21, 2014 ~ Washington, DC
Clinical utility gene card for: Prader-Willi Syndrome
Buiting K, et al. Eur J Hum Genet 2014 Apr
National Institutes of Health (NIH) review of evidence in phenylalanine hydroxylase deficiency (phenylketonuria) and recommendations/guidelines for therapy from the American College of Medical Genetics (ACMG) and Genetics Metabolic Dietitians International (GMDI).
Greene CL, et al. Mol Genet Metab. 2014 Mar 25. pii: S1096-7192(14)00093-6.
Phenylketonuria scientific review conference: State of the science and future research needs.
Camp KM, et al. Mol Genet Metab. 2014 Mar 6. pii: S1096-7192(14)00085-7.
Aspirin and the risk of colorectal cancer in relation to the expression of 15-hydroxyprostaglandin dehydrogenase (HPGD)
Fink S, et al. Sci Transl Med 23 April 2014: Vol. 6, Issue 233, p. 233re2
Aspirin's benefit in preventing colon cancer depends on DNA, by Sharon Begley, Reuters, Apr 23
Awareness of cancer susceptibility genetic testing: the 2000, 2005, and 2010 national health interview surveys.
Mai PL, et al. Am J Prev Med. 2014 May;46(5):440-8.
Whole-exome sequencing of circulating tumor cells provides a window into metastatic prostate cancer.
Jens G Lohr et al. Nature Biotechnology, April 20, 2014.
Abolishing mammography screening programs? A view from the swiss medical board.
Nikola Biller-Andorno, et al. NEJM, April 16, 2014
FTO genotype, dietary protein, and change in appetite: the Preventing Overweight Using Novel Dietary Strategies trial
Huang T, et al. Am J Clin Nutr. 2014 May;99(5):1126-30.
Risk assessment of venous thrombosis in families with known hereditary thrombophilia: the MARseilles-NImes prediction model
Cohen W, et al. J Thromb Haemost 2014 Feb;12(2):138-46
Update of the German Diabetes Risk Score and external validation in the German MONICA/KORA study
Muhlenbruch K, et al. Diabetes Res Clin Pract 2014 Mar
Ensuring privacy in the study of pathogen genetics
Sanjay R Mehta. Lancet Infectious Diseases, April 2014
Gene patents, patenting life and the impact of court rulings on US stem cell patents and research
Matthews KR & Cuchiara ML Regen Med 2014 Mar;9(2):191-200
Human genetic research, race, ethnicity and the labeling of populations: recommendations based on an interdisciplinary workshop in Japan
Takezawa Y, et al. BMC Medical Ethics 2014, 15:33 2014 Apri 23
Identifying genetic relatives without compromising privacy.
He D et al. Genome Research, April, 2014
Informed consent: Not just about blood tests and procedures anymore -HIPAA and genomics complicate matters, by Margot J. Fromer, ASCO Post, Apr 15
Ethics, regulation, and comparative effectiveness research: Time for a change
Richard Platt et al. JAMA April 16, 2014
A role for the gut microbiota in IBS
Collins SM. Nat Rev Gastroenterol Hepatol. 2014 Apr 22
Exploring bacterial epigenomics in the next-generation sequencing era: a new approach for an emerging frontier.
Poyin Chen et al. Trends in Microbiology, April 2014
Microbiome: A complicated relationship status.
Sarah Deweerdt, Nature, April 16, 2014
Hand-held malaria tester sequences DNA, suggests meds quickly, by Timothy J. Seppala, Engadget, Apr 24
Microbiomes and complexity, by Anne Buchanan, the Mermaid Blog, Apr 22
Urgent call to expand newborn screening in the UK, by Dr Philippa Brice, PHG Foundation, Apr 22
Ancestry-based pharmacogenomics, adverse reactions and carbamazepine: is the FDA warning correct?
Payne PW Pharmacogenomics J 2014 Apr
Awareness and motives for use and non-use of preimplantation genetic diagnosis in familial amyloid polyneuropathy mutation carriers
Valdrez K, et al. Prenat Diagn 2014 Apr
Hereditary breast and ovarian cancer and reproduction: an observational study on the suitability of preimplantation genetic diagnosis for both asymptomatic carriers and breast cancer survivors
Derks-Smeets IA, et al. Breast Cancer Res Treat 2014 Apr
Incorporating genomics in health screening programmes, PHG Foundation, Apr 24
New initiative to boost use of genomics at NIH clinical center, Genome Web, Apr 22
NIH to jump-start genomic medicine with new program. Genomic data will play increased role in studies at the NIH Clinical Center, by Raymond MacDougall, National Human Genome Research Institute, April 21, 2014
Hunting for the genetic secret to a rare disease, Popular Science, Apr 21
Virtual doctor visits gaining steam in “geneticist deserts”. Genetic experts are eyeing computer webcams and videoconferencing to assess patients in Alaska and other remote places, by Dina Fine Maron, Scientific American, Apr 21
A blood test that can predict cancer recurrence, Daily Briefing, Apr 17
Gene panel screens dozens of genes for cancer-associated mutations, Science Blog, Apr 16
Questions remain; some rules should be clear, The New York Times, Apr 14
Bioinformatics handles big data, by Jingya Qiu, Biological Sciences, Apr 13
CDC authors are indicated in bold
Wild-type measles viruses with non-standard genome lengths.
Bankamp B, Liu C, Rivailler P, Bera J, Shrivastava S, Kirkness EF, Bellini WJ, Rota PA. PLoS One. 2014 Apr 18;9(4):e95470.
Mutations within the rplD gene of linezolid-nonsusceptible Streptococcus pneumoniae strains isolated in the United States
Dong W, Chochua S, McGee L, Jackson D, Klugman KP, Vidal JE. Antimicrob Agents Chemother. 2014 Apr;58(4):2459-62.
Transcontinental movement of Asian genotype chikungunya virus [letter].
Lanciotti RS, Valadere AM. Emerg Infect Dis. 2014 Aug
Genetic variants in the major histocompatibility complex class I and class II genes are associated with diisocyanate-induced asthma
Yucesoy B, Johnson VJ, Lummus ZL, Kashon ML, Rao M, Bannerman-Thompson H, Frye B, Wang W, Gautrin D, Cartier A, Boulet LP, Sastre J, Quirce S, Tarlo SM, Germolec DR, Luster MI, Bernstein DI. J Occup Environ Med. 2014 Apr;56(4):382-7.
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