HLBS-PopOmics - Heart, Lung, Blood, and Sleep Disorders Knowledge Base in Population Genomics -

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HLBS-PopOmics

- Heart, Lung, Blood, and Sleep Disorders Knowledge Base in Population Genomics -

What's New

Last Posted: Apr 30, 2018

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• Living With COPD 
• Doctors cure seven adult patients of sickle cell disease using stem cells  
  The Guardian, Apr 27, 2018
• The 2018 Global FH Summit focuses on implementation science  
  The FH Foundation, Oct 1-2, 2018
• [Genetic heterogeneity and complexity of congenital heart defects].  
  Nagy Dóra et al. Orvosi hetilap 2018 Apr 159(17) 661-670
• 5 reasons your doctor may recommend genetic counseling during pregnancy  
  Geisinger Health, Apr 2018
• A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.  
  Rama Mélanie et al. European journal of human genetics : EJHG 2018 Apr
• A Qualitative Analysis of the Information Needs of Parents of Children with Cystic Fibrosis prior to First Admission.  
  Fixter Vera et al. Journal of pediatric nursing 34e29-e33
• Assessment of the interlaboratory variability and robustness of JAK2V617F mutation assays: A study involving a consortium of 19 Italian laboratories.  
  Perricone Margherita et al. Oncotarget 2017 May 8(20) 32608-32617
• Associations of Fitness, Physical Activity, Strength, and Genetic Risk With Cardiovascular Disease: Longitudinal Analyses in the UK Biobank Study.  
  Tikkanen Emmi et al. Circulation 2018 Apr
• At-Home Genetic Testing Is Blurring Lines Between Patient and Consumer  
  E Glowatz, Newsweek, Apr 24, 2018
• Clinical experience with multigene carrier panels in the reproductive setting.  
  Terhaar Catherine et al. Prenatal diagnosis 2018 Apr
• Decoding your baby's DNA: It can be done. But should it be?  
  S Karlamangla, LA Times, Apr 21, 2018
• Detection of oncogenic mutations in resected bronchial margins by next-generation sequencing indicates early relapse in stage IA lung adenocarcinoma patients.  
  Lv Tangfeng et al. Oncotarget 2017 Jun 8(25) 40643-40653
• Gene Therapy as a Curative Option for β-Thalassemia.  
  Biffi Alessandra et al. The New England journal of medicine 2018 378(16) 1551-1552
• Gene therapy helps patients avoid blood transfusion, study says  
  CNN, Apr 19, 2018

Precision public health [NEW TOPIC PAGE]

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Last Posted: Apr 30, 2018

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• Editorial: Precision Public Health  
  TS Weeramanthri et al. front Pub Health, Apr 30, 2018
• Precision Public Health Asia 2018  
  Perth, Western Australia, Oct 18-19, 2018
• Principles of Precision Prevention Science for Improving Recruitment and Retention of Participants.  
  Supplee Lauren H et al. Prevention science : the official journal of the Society for Prevention Research 2018 Mar
• How Geisinger Is Using Gene Screening to Prevent Disease  
  H Willard et al, Harvard Business Review, Mar 14, 2018
• Mass Customization, Ubiquitous Information, and Improvements to Health Outcomes in the United States  
  RM Califf, JAMA Cardio, Mar 7, 2018
• Big Data’s Role in Precision Public Health  
  S Dolley, Frontiers in Public Health, Mar 8, 2018

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Genome editing [NEW TOPIC PAGE]

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Last Posted: Apr 28, 2018

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• Next-generation diagnostics with CRISPR  
  DS Chertov, Science, Apr 2018
• The gene editing tool that could treat hereditary illnesses  
  CBS, Apr 26, 2018
• Genome Editing- Altering a genome with unparalleled efficiency and precision.  
  NHGRI, Apr 24, 2018
• The Code is a three-part video series investigating the roots of today’s most promising genetic technologies  
  S Begley, StatNews, Apr 2018
• Gene Editing for Good: How CRISPR Could Transform Global Development  
  B Gates, Foreign Affairs, Apr 10, 2018
• CRISPR/Cas9: the Jedi against the dark empire of diseases.  
  Khan Sehrish et al. Journal of biomedical science 2018 Mar 25(1) 29

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Personal genomics [NEW TOPIC PAGE]

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Last Posted: Apr 28, 2018

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• Evolution of At-Home Genetic Testing: From Information and Entertainment to Actionable Medical Tests  
  SW Weisserman, NSGC Blog, Apr 2018
• At-Home Genetic Testing Is Blurring Lines Between Patient and Consumer  
  E Glowatz, Newsweek, Apr 24, 2018
• Direct-to-Consumer Genomic Testing- Accessing information about your genome from your home  
  NHGRI, Apr 20, 2018
• Health Care Providers Can't Afford To Ignore Direct-To-Consumer Genetic Testing  
  E Matloff, Forbes, Apr 25, 2018
• Stages of behavioural change after direct-to-consumer disease risk profiling: study protocol of two integrated controlled pragmatic trials.  
  Stewart Kelly F J et al. Trials 2018 Apr 19(1) 240
• Trends and Gaps in Awareness of Direct-to-Consumer Genetic Tests From 2007 to 2014.  
  Apathy Nate C et al. American journal of preventive medicine 2018 Apr

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Cascade screening [NEW TOPIC PAGE]

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Last Posted: Apr 28, 2018

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• The Power of Cascade Testing and How Genetic Counselors Can Help  
  AC Sturm, NSGC blog, Apr 2018
• How Can We Reach At-Risk Relatives? Efforts to Enhance Communication and Cascade Testing Uptake: a Mini-Review  
  R Schwiter et al. Curr Genet Med Rep, Apr 2018
• The genetics underlying acquired long QT syndrome: impact for genetic screening.  
  Itoh Hideki et al. European heart journal 2016 May 37(18) 1456-64
• More Awareness of Familial Hypercholesterolemia and Severe Dyslipidemia, yet Statin Use Remains Low  
  Y Maxwell, tctMD, Mar 28, 2018
• Familial Hypercholesterolemia is Common and Undertreated in the United States
  EM Bucholz et al, CDC Blog Post, Mar 26, 2018
• Cascade screening program for familial hypercholesterolemia.  
  Rubio-Marín Patricia et al. Endocrinologia, diabetes y nutricion 2018 Mar

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Newborn screening [NEW TOPIC PAGE]

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Last Posted: Apr 30, 2018

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• Delays in adding new newborn screening tests harm babies, families  
  R Moy et al, STatNews, Apr 30, 2018
• Decoding your baby's DNA: It can be done. But should it be?  
  S Karlamangla, LA Times, Apr 21, 2018
• Global burden of genetic disease and the role of genetic screening.  
  Verma I C et al. Seminars in fetal & neonatal medicine 2015 Oct 20(5) 354-63
• Minor operations: Genetic testing for children and adolescents presents complex ethical issues  
  L Beil, Genome Magazine, Apr 2018
• Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.  
  Hong Xinying et al. Molecular genetics and metabolism 2018 Mar
• Newborn Screening for Lysosomal Storage Disorders.  
  Anderson Sharon et al. Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 32(3) 285-294

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