Integrated Whole-Genome Analysis of Hematologic Disorders

Integrated Whole-Genome Analysis of Hematologic Disorders Using High-Throughput Sequencing and Array Technologies

We will use new technologies to look at the DNA, RNA, proteins, and metabolites in the disease-containing blood, bone marrow, or tissue and normal cells from the skin. Our goal is to analyze all of the genes in the diseased and normal skin sample. By comparing the results of the diseased sample and normal skin cells and the results of the two types of genetic information (DNA and RNA), we should be able to identify genetic changes that are important for the initiation, progression, or treatment response of that particular disorder.

Study Overview

• Status: Completed
• Conditions: Hematologic Diseases
• Intervention / Treatment: Procedure: Blood Draw; Procedure: Skin Biopsy

• Study Type: Observational
• Enrollment (Actual): 35

Contacts and Locations

Study Locations

• United States
  • California
    • Stanford, California, United States, 94305
      • Stanford University School of Medicine

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

participants with hematologic disorders

Description

Inclusion Criteria:

1. 18 years of age or older
2. Patient meets the clinical and/or pathologic criteria for the hematologic disorder being examined.
3. Patient is willing to provide a skin biopsy and five 10 mL tubes of peripheral blood.

Exclusion Criteria:

1. Less than 18 years of age
2. Patient is not willing to provide a skin biopsy and five 10 mL tubes of peripheral blood.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
to identify mutations, changes in DNA copy number, structural rearrangements, or altered coding and non-coding RNA expression	sample collection at time of routine visit

Collaborators and Investigators

• Sponsor: Stanford University
• Investigators: Principal Investigator: James L Zehnder, Stanford University

Publications and helpful links

General Publications

• Merker JD, Roskin KM, Ng D, Pan C, Fisk DG, King JJ, Hoh R, Stadler M, Okumoto LM, Abidi P, Hewitt R, Jones CD, Gojenola L, Clark MJ, Zhang B, Cherry AM, George TI, Snyder M, Boyd SD, Zehnder JL, Fire AZ, Gotlib J. Comprehensive whole-genome sequencing of an early-stage primary myelofibrosis patient defines low mutational burden and non-recurrent candidate genes. Haematologica. 2013 Nov;98(11):1689-96. doi: 10.3324/haematol.2013.092379. Epub 2013 Jul 19.

Study record dates

Study Major Dates

• Study Start: September 1, 2009
• Primary Completion (Actual): August 2, 2013
• Study Completion (Actual): August 2, 2013

Study Registration Dates

• First Submitted: April 19, 2010
• First Submitted That Met QC Criteria: April 20, 2010
• First Posted (Estimate): April 21, 2010

Study Record Updates

• Last Update Posted (Actual): May 31, 2018
• Last Update Submitted That Met QC Criteria: May 29, 2018
• Last Verified: May 1, 2018

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Hematologic Diseases
• Other Study ID Numbers: HEM0013; 16329 (Stanford IRB); 1081737-100-DHAAT; SU-09092009-3820 (Other Identifier: Stanford University)