What's the purpose of Bone Marrow Failure Research?

  • Our research is to identify the causes of bone marrow failure syndromes in adults and children.
  • We look specifically at alterations (mutations) in genes and proteins that could be responsible for specific types of bone marrow failure.
  • We look at changes that predict the course and outcome of disease.
  • We produce reprogramed stem cells (induced pluripotent stem cells , IPSc) from skin, bone marrow and peripheral blood to characterize the defects in cell growth and in blood production that are responsible for bone marrow failure in a specific individual, test new therapies and explore better treatment options.

What’s involved?

  • We collect blood samples and if available skin and bone marrow from patients with bone marrow failure syndromes.
  • Blood samples can be drawn at the same time as doctor’s visit and shipped to the Children’s Hospital of Philadelphia.
  • For patients who undergo a bone marrow biopsy for clinical purposes we ask for small sample from the bone marrow and a small skin biopsy.
  • All personal health information including name and date of birth is coded with a number to protect patient privacy.
  • Participation is completely voluntary! If you do not want to be on the study in the future, you can withdraw at any time.
  • There is no cost to participate and all results are confidential.

For Healthy Controls:

Our research study is always looking for healthy controls to participate too!

  • Healthy Controls must be:
  • 18 or older
  • Able to provide consent
  • Willing to submit a blood sample

All healthy controls must sign a consent form with our study team. Blood will be drawn at the Children’s Hospital of Philadelphia at no charge to you.

How to Participate

If you think you might want to participate in our bone marrow failure research studies or want more information about what’s involved, you can contact our study team by email or telephone.

Our study team will go over a consent form with you. Everybody who participates must sign a consent form.

Peter Nicholas
Telephone: 267-426-9376