Posts tagged ‘cystic fibrosis’

Eye disease

  1. Fritsche LG, et al. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nat Genet. 2015 Dec 21. doi: 10.1038/ng.3448. [Epub ahead of print] PubMed PMID: 26691988.

Zebrafish Behaviour

  1. Prykhozhij SV, Rajan V, Berman JN. A Guide to Computational Tools and Design Strategies for Genome Editing Experiments in Zebrafish Using CRISPR/Cas9. Zebrafish. 2015 Dec 18. [Epub ahead of print] PubMed PMID: 26683213.
  2. Gao Y, Zhang G, Jelfs B, Carmer R, Venkatraman P, Ghadami M, Brown SA, Pang CP, Leung YF, Chan RH, Zhang M. Computational classification of different wild-type zebrafish strains based on their variation in light-induced locomotor response. Comput Biol Med. 2015 Nov 30;69:1-9. doi: 10.1016/j.compbiomed.2015.11.012. [Epub ahead of print] PubMed PMID: 26688204.

Genome Editing

  1. Sakuma T, Nakade S, Sakane Y, Suzuki KT, Yamamoto T. MMEJ-assisted gene knock-in using TALENs and CRISPR-Cas9 with the PITCh systems. Nat Protoc. 2016 Jan;11(1):118-33. doi: 10.1038/nprot.2015.140. Epub 2015 Dec 17. PubMed PMID: 26678082.
  2. Lackner DH, Carré A, Guzzardo PM, Banning C, Mangena R, Henley T, Oberndorfer S, Gapp BV, Nijman SM, Brummelkamp TR, Bürckstümmer T. A generic strategy for CRISPR-Cas9-mediated gene tagging. Nat Commun. 2015 Dec 17;6:10237. doi: 10.1038/ncomms10237. PubMed PMID: 26674669.
  3. Prykhozhij SV, Rajan V, Berman JN. A Guide to Computational Tools and Design Strategies for Genome Editing Experiments in Zebrafish Using CRISPR/Cas9. Zebrafish. 2015 Dec 18. [Epub ahead of print] PubMed PMID: 26683213. Doudna J. Genome-editing revolution: My whirlwind year with CRISPR. Nature. 2015 Dec 24;528(7583):469-71. doi: 10.1038/528469a. PubMed PMID: 26701037.
  4. Gagnon KT, Corey DR. Stepping toward therapeutic CRISPR. Proc Natl Acad Sci U S A. 2015 Dec 22;112(51):15536-7. doi: 10.1073/pnas.1521670112. Epub 2015 Dec 7. PubMed PMID: 26644585.
  5. Rahdar M, McMahon MA, Prakash TP, Swayze EE, Bennett CF, Cleveland DW. Synthetic CRISPR RNA-Cas9-guided genome editing in human cells. Proc Natl Acad Sci U S A. 2015 Dec 22;112(51):E7110-7. doi: 10.1073/pnas.1520883112. Epub 2015 Nov 16. PubMed PMID: 26589814.


  1. Pankow S, Bamberger C, Calzolari D, Martínez-Bartolomé S, Lavallée-Adam M, Balch WE, Yates JR 3rd. ∆F508 CFTR interactome remodelling promotes rescue of cystic fibrosis. Nature. 2015 Dec 24;528(7583):510-6. doi: 10.1038/nature15729. Epub 2015 Nov 30. PubMed PMID: 26618866.


  1. Barna L, Dudok B, Miczán V, Horváth A, László ZI, Katona I. Correlated confocal and super-resolution imaging by VividSTORM. Nat Protoc. 2016 Jan;11(1):163-183. doi: 10.1038/nprot.2016.002. Epub 2015 Dec 30. PubMed PMID: 26716705.
  2. Murray E, Cho JH, Goodwin D, Ku T, Swaney J, Kim SY, Choi H, Park YG, Park JY, Hubbert A, McCue M, Vassallo S, Bakh N, Frosch MP, Wedeen VJ, Seung HS, Chung K. Simple, Scalable Proteomic Imaging for High-Dimensional Profiling of Intact Systems. Cell. 2015 Dec 3;163(6):1500-14. doi: 10.1016/j.cell.2015.11.025. PubMed PMID: 26638076.
  3. Errico C, Pierre J, Pezet S, Desailly Y, Lenkei Z, Couture O, Tanter M. Ultrafast ultrasound localization microscopy for deep super-resolution vascular imaging. Nature. 2015 Nov 26;527(7579):499-502. doi: 10.1038/nature16066. PubMed PMID: 26607546.


  1. Camp JG, Badsha F, Florio M, Kanton S, Gerber T, Wilsch-Bräuninger M, Lewitus E, Sykes A, Hevers W, Lancaster M, Knoblich JA, Lachmann R, Pääbo S, Huttner WB, Treutlein B. Human cerebral organoids recapitulate gene expression programs of fetal neocortex development. Proc Natl Acad Sci U S A. 2015 Dec 22;112(51):15672-7. doi: 10.1073/pnas.1520760112. Epub 2015 Dec 7. PubMed PMID: 26644564.



There seems to be a new effective drug for Cystic Fibrosis!

  1. Ramsey BW, Davies J, McElvaney NG, Tullis E, Bell SC, Dřevínek P, Griese M, McKone EF, Wainwright CE, Konstan MW, Moss R, Ratjen F, Sermet-Gaudelus I, Rowe SM, Dong Q, Rodriguez S, Yen K, Ordoñez C, Elborn JS; VX08-770-102 Study Group. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med. 2011 Nov 3;365(18):1663-72. PubMed PMID: 22047557.
    • Commentary: Davis PB. Therapy for cystic fibrosis–the end of the beginning? N Engl J Med. 2011 Nov 3;365(18):1734-5. PubMed PMID: 22047565.
    • News coverage: “Cystic Fibrosis Drug a Game Changer?” from

We will all read two short articles about Cystic Fibrosis:

  • Couzin-Frankel J. The promise of a cure: 20 years and counting. Science. 2009 Jun 19;324(5934):1504-7.
  • Pearson H. One gene, twenty years. Nature. 2009 Jul 9;460(7252):164-9.

Each one of us will then pick one of the following topics, elaborate the discussion by reading an additional latest reference of your choice and present the major ideas in the lab meeting.  (Liyun, as a physician for years, should pick up a more research-based topic).

The format will be a 10-min presentation followed by 5-min discussion. If you are discussing a research paper, the breakdown should be as follows: 5-min for background+experimental design, 5-min for 1-2 major findings. For a review paper, the breakdown should be approximately 3 mins for each major idea. The presentation should have no more than 4 slides, preferably 3, you can also use the board. We will also bring a timer.

I suggest the following six topics:

  1. Pathophysiology
  2. Etiology and epidemiology
  3. General therapeutic approaches excluding gene therapy
  4. Functional characterization of CFTR
  5. Animal models, challenges and prospects
  6. Gene therapy, challenges and prospects

Please reply and this thread to select your topic, and upload both your presentation and the reference article to the appropriate lab meeting folder.  I look forward to discussing these ideas with you!