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Rare Diseases

- Rare Diseases PHGKB -

What's New

Last Posted: Sep 12, 2019

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• Children with rare inherited condition to benefit from drug through managed access agreement 
  NICE, UK, September 11, 2019
• Creating genetic reports that are understood by nonspecialists: a case study. 
  Recchia Gabriel et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Sep
• CRISPR-Edited Stem Cells in a Patient with HIV and Acute Lymphocytic Leukemia. 
  Xu Lei et al. The New England journal of medicine 2019 Sep
• Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy 
  M Gigli et al. JACC, September 2019
• First gene therapy for β-thalassemia approved 
  C Harrison, Nature Biotechnology, September 9, 2019
• Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia 
  P Rio et al, Nature Medicine, September 9, 2019
• Clinical Validation of PBRM1 Alterations as a Marker of Immune Checkpoint Inhibitor Response in Renal Cell Carcinoma. 
  Braun David A et al. JAMA oncology 2019 Sep
• Thirtieth Anniversary of Cystic Fibrosis Gene Discovery 
  Francis Collins, NIH Director's blog, August 2019
• Effect of Metformin Plus Tyrosine Kinase Inhibitors Compared With Tyrosine Kinase Inhibitors Alone in Patients With Epidermal Growth Factor Receptor–Mutated Lung Adenocarcinoma 
  JAMA Oncology, September 5, 2019
• Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records 
  JP Sugunarajav et al, NPJ Genomic Medicine, September 5, 2019
• What you need to know about ovarian cancer
  CDC, 2019
• Newborn Screening for Severe Combined Immunodeficiency. 
  Taki Mohammed et al. Pediatric clinics of North America 2019 Oct 66(5) 913-923
• Synchronicity of genetic variants between primary sites and metastatic lymph nodes, and prognostic impact in nodal metastatic lung adenocarcinoma. 
  Ito Masaoki et al. Journal of cancer research and clinical oncology 2019 Sep 145(9) 2325-2333
• Therapeutic relevance of targeted sequencing in management of patients with advanced biliary tract cancer: DNA damage repair gene mutations as a predictive biomarker. 
  Chae Heejung et al. European journal of cancer (Oxford, England : 1990) 2019 Aug 12031-39
• A nation-wide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). 
  Sharon Dror et al. Human mutation 2019 Aug
• A Proposal to Reflect Survival Difference and Modify the Staging System for Lung Adenocarcinoma and Squamous Cell Carcinoma: Based on the Machine Learning. 
  Li Ming et al. Frontiers in oncology 2019 9771
• Allergic eye disease in children and adolescents seeking eye care in India: Electronic medical records driven big data analytics report II. 
  Das Anthony Vipin et al. The ocular surface 2019 Aug
• Artificial Intelligence in the Management of Glioma: Era of Personalized Medicine. 
  Sotoudeh Houman et al. Frontiers in oncology 2019 9768
• Current Status of Clinical Diagnosis and Genetic Analysis of Hereditary Hemorrhagic Telangiectasia in South Korea: Multicenter Case Series and a Systematic Review. 
  Kim Donghyun et al. Neurointervention 2019 Sep 14(2) 91-98
• Genetic testing in fetuses with isolated agenesis of the corpus callosum. 
  She Qin et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2019 Aug 1-201