What's New

Last Posted: Nov 07, 2019

• Cystic Fibrosis Diagnosis in Newborns, Children, and Adults.
  Castellani Carlo et al. Seminars in respiratory and critical care medicine 2019 Nov
• Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years.
  Skov Marianne et al. Pediatric pulmonology 2019 Nov
• Molecular genetic framework underlying pulmonary arterial hypertension.
  Southgate Laura et al. Nature reviews. Cardiology 2019 Aug
• Precision medicine: The future of diagnostic approach to pulmonary hypertension?
  Kedzierski Piotr et al. Anatolian journal of cardiology 2019 Sep (4) 168-171
• Cystic fibrosis: triple therapy shows promising results
  E Mahase, BMJ, November 4, 2019
• Realizing the Dream of Molecularly Targeted Therapies for Cystic Fibrosis.
  Collins Francis S et al. The New England journal of medicine 2019 Oct
• Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial
  HGM Heijerman et al, Lancet, October 31, 2019
• Elexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele
  PJ Middleton et al, NEJM, October 31, 2019
• FDA approves new breakthrough therapy for cystic fibrosis- Treatment approved for approximately 90% of patients with cystic fibrosis, many of whom had no approved therapeutic options
  FDA News Release, October 2019
• Studies Yield ‘Impressive’ Results in Fight Against Cystic Fibrosis
  N Chokshi, NY Times, October 31, 2019
• Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele.
  Middleton Peter G, et al. The New England journal of medicine 2019 11 0. (19) 1809-1819
• Studies Yield 'Impressive' Results in Fight Against Cystic Fibrosis
  N Chokshi, NY Times, October 31, 2019
• New Hope For Patients Living With Cystic Fibrosis After Scientists Unveil Therapy
  NPR, November 1, 2019
• Dare to Dream: The Long Road to Targeted Therapies for Cystic Fibrosis
  NIH Director's Blog, October 31, 2019
• 22q and two: 22q11.2 deletion syndrome and coexisting conditions.
  Cohen Jennifer L et al. American journal of medical genetics. Part A 2018 176(10) 2203-2214
• Choroideremia Gene Therapy Phase 2 Clinical Trial: 24-Month Results.
  Lam Byron L et al. American journal of ophthalmology 2019 19765-73
• Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough.
  Tasca Giorgio et al. Neuromuscular disorders : NMD 2018 28(3) 268-276
• Whole Blood Gene Expression Profiling Predicts Severe Morbidity and Mortality in Cystic Fibrosis: A 5-Year Follow-Up Study.
  Saavedra Milene T et al. Annals of the American Thoracic Society 2018 15(5) 589-598
• Biomarkers for Clinical Decision-Making in the Management of Pulmonary Embolism.
  Giannitsis Evangelos et al. Clinical chemistry 2017 Jan 63(1) 91-100
• Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis.
  Ooi Chee Y et al. BMC pediatrics 2019 Oct 19(1) 369