User:Maskerib

From Wikipedia, the free encyclopedia

[toc:]http://en.wikipedia.org/skins-1.5/common/images/button_media.png#REDIRECT go here

      • Most recent status***

3/9/2007: Waiting for investigator's response on how to move forward, options are

  a) NISC and/or Meral completes coverage of these two genes

  b) NISC starts on the next 1/3 of the genes

  c) NISC fills in holes in the first 1/3 with an automated round  of primer redesign
      • Investigator Info***

William A. Gahl, M.D., Ph.D.

NHGRI

Building 10, Room 10C103 10 Center Dr, MSC 1851 Bethesda, MD 20892-1851

phone (301) 402-2739

fax (301) 402-2740

e-mail bgahl@helix.nih.gov

      • Additional Contact***

Gerard Bouffard, Ph.D.

5625 Fishers Ln

Room 5S-16C, MSC 9400 Rockville, MD 20892-9400

phone (802) 656-9990

fax (802) 656-4574

e-mail bouffard@mail.nih.gov

      • Project Title***

Gray Platelet Syndrome

Back to [Gahl:Registration]

      • Project Description***

Gray platelet syndrome (GPS) is a disorder characterized by thrombocytopenia and large platelets that lack alpha granules and their contents. We describe two siblings with GPS who are members of a Moslem Bedouin genetic isolate. The children, an 8-year-old girl and a 5-year-old boy, had characteristic pale blue platelets lacking alpha granules on electron microscopy. Platelet aggregation studies were normal. The girl underwent a bone marrow aspiration and biopsy which showed mild myelofibrosis and extensive emperipolesis, i.e., the passage of other hematopoietic cells through megakaryocytes. Both children lacked high-molecular-weight multimers of von Willebrand factor (vWF) and had reduced activity and antigens of vWf. Platelet activation was approximately normal when ADP was employed as agonist, but significantly impaired using the thrombin receptor-activating peptide (TRAP). These findings are explained in light of the mechanism of action of each agonist. In addition, we propose that the emperipolesis was caused by increased P-selectin in megakaryocytes, and resulted in release of fibroblastic growth factors, explaining the myelofibrosis. The detailed description of these cases provides a basis for future differentiation of the various types of GPS, and for our current attempts to isolate the gene causing GPS in this genetic isolate.

Back to [Gahl:Registration]


      • Estimated Dimensions of Study***

[tablestyle:borders]

| Project phage | No of primer pairs | No of DNA samples | Estimated cost | | | | | | | Phase I | 30608 | 8 | | | Phase II | | | | | Phase III | | | |

Back to [Gahl:Registration]

      • DNA Sample Sources***
  • Blood
  • Frozen Tissue
  • Formalin-fixed Tissue
  • Cell Line
  • Buccal Swab
  • WGA
  • Other
      • IRB Status***
  • Pending
  • Approved
  • Waiver received
  • Other

Back to [Gahl:Registration]


      • Patient Consent Status***

If data is to be deposited in the trace repository, approved consent is required , including a specific statement that data will be on the web:

  • not needed - data will ot be depositied
  • consents approved bt NHGRI DER
  • waiver received by NHGRI DER
  • other


      • Expected Time Frame***

[tablestyle:borders]

| Project phage | Estimated start date | Estimated end date | | | | | | Phase I | | | | Phase II | | | | Phase III | | |


Back to [Gahl:Registration]

      • Funding Summary***

[tablestyle:borders]

| Project phage | Funding source | Sequencing barcode range or dates | Actual cost | | | | | | | Phase I | | | | | Phase II | | | | | Phase III | | | |

      • Analysis***

Pedro's report http://saturn.nhgri.nih.gov/cruzp/tgs_edge/web/project.cgi

Analysis on latest data:[file:17703]

[file:10068]

And here is the file showing the level of completion for each CDS in BSN and MST1R. Note the size of some CDSs, like BSN 5 (2kb) and 6 (7kb). This should give a sense of the amount of work needed to bring these two genes closer to completion.

Best, Jim


[file:16756]