Research
SBDS Protein Expression in Peripheral Blood Leukocytes
The SBDS gene has recently been identified. So far, three common mutations and fifty rare mutations have been identified. The protein produced by the SBDS gene has a definite function, and when a gene is defective, it produces either no protein, very little protein or protein that doesn' function. Researchers have developed a way to measure the SBDS protein and are studying this protein in individuals with Shwachman-Diamond Syndrome.
To participate in this study, contact Lynda Ellis RN lynda.ellis@sickkids.ca or 416-813-5515
SBDS Gene, DNA Rpair and Telomere Eogation Sudy
Dr. Neal Young and Dr. Rodrigo Calado from the NIH are looking into SBDS gene function, specifically DNA repair and telomere elogation. This study only requirres a small sample of blood to be collected and sent to the NIH.
To participate, contact Dr. Rodrigo Calado calador@nhlbi.nih.gov or 301-496-5093
Division of Cancer Epidemiolgy and Genetics New study
Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes (IBMFS)The NCI IBMFS Cohort consists of affected individuals and their immediate families in North America who have an inherited bone marrow failure syndrome (IBMFS), either one that has been specifically identified and defined, or bone marrow failure which appears to be inherited but has not yet been clearly identified as having a genetic basis. A cohort is a group of carefully defined and thoroughly evaluated study participants which is followed over time to analyze the medical events which occur in each person.
The most common of the IBMFS are:
• Amegakaryocytic Thrombocytopenia
• Diamond-Blackfan Anemia
• Dyskeratosis Congenita
• Fanconi's Anemia
• Pearson's Syndrome
• Severe Congenital Neutropenia
• Shwachman-Diamond Syndrome
• Thrombocytopenia Absent Radii
• Other Bone Marrow Failure Syndromes
There will be two subgroups of study participants in the NCI IBMFS Cohort: those who are seen and evaluated at the NIH Clinical Center (called the CC IBMFS Cohort), and those who participate by providing information but who are not seen by the NCI team at the NIH (called the Field IBMFS Cohort). email: Lisa Leathwood
For more information about this study click this link: http://marrowfailure.cancer.gov/
