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(JCA-0689) Genetic dissection of congenital asplenia

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Genetic dissection of congenital asplenia

Principal Investigator:
Jean-Laurent Casanova MD, PhD

Laurent Abel MD, PhD
Alexandre Bolze MSc

Contact Information:
Yelena Nemirovskaya
The Rockefeller University
1230 York Ave.
New York, NY 10065
Alt. Telephone: 212.327.7332
Enrollment Status:
Open to Enrollment

Brief Summary of Protocol:
Dr. Casanova’s laboratory is studying a rare defect in the ability to fight a serious bacterial disease. This is due to being born without a spleen. In this disease the spleen, an organ in the abdomen that filters the blood to help prevent infections, is missing. This condition is called congenital asplenia. It is not known why this occurs, but it is likely that there is a change in a gene responsible for the normal development of the spleen. The reason for doing this research is to identify the defective gene that causes the failure to develop the spleen. This will be important to help diagnose the disease and guide genetic counseling of families that may be affected

Approximately 40 people will take part in the research study. The study will last approximately 10 years.

Detailed Description of Protocol:
This study involves a donation of blood and possibly a skin biopsy. Additionally, you will be asked to complete an epidemiological questionnaire with the assistance of the PI and/or the research team. It may be necessary to obtain additional blood samples later in the study. All blood and skin biopsy samples are coded to protect your confidentiality.

What specifically makes a person eligible for the study?
You may be eligible to enter this study:

Patient with ICA must lack a spleen and/or have howell-Jolly bodies on blood smears.



Children permitted to participate:

Potential Benefits.....
There will be no benefit to you from taking part in this research study. Instead, others may benefit in the future from what we learn from this study.

We will give you $20 for your blood donation and $30 for your skin biopsy. If you are a child you will receive a gift card to Toys “R” Us in the amount of $20 for your blood donation and $30 for your skin biopsy.