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 Elogation 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 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/
A small number of patients suffer from symptoms that do not correspond to known conditions, making their care and treatment extraordinarily difficult. However, the history of biomedical research has taught us that careful study of baffling cases can provide new insights into the mechanisms of disease — both rare and common," said NIH Director Elias A. Zerhouni, M.D., who has made a point during his six-year tenure at NIH of encouraging trans-NIH initiatives. "The goal of NIH’s Undiagnosed Diseases Program is two-pronged: to improve disease management for individual patients and to advance medical knowledge in general."
For more information, visit the Undiagnosed Diseases Program website
Undiagnosed Diseases Program
Some patients wait years for a definitive diagnosis. Using a unique combination of scientific and medical expertise and resources at the National Institutes of Health (NIH), the Undiagnosed Diseases Program pursues two goals:
To provide answers to patients with mysterious conditions that have long eluded diagnosis
To advance medical knowledge about rare and common diseases
The program is trans-NIH in scope. It is organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases (ORD) and the NIH Clinical Center. Many medical specialties will contribute expertise needed to conduct the program, including endocrinology, immunology, oncology, dermatology, dentistry, cardiology, and genetics, which are represented among the dozens of participating senior attending physicians who may participate in the program's clinical research.
Any longstanding medical condition that eludes diagnosis by a referring physician can be considered undiagnosed and may be of interest to this clinical research program. Of the total number of cases that may be referred to this program, a very limited number will be invited to proceed in the study at the discretion of the program’s medical team.
For more information please call (866) 444-8806
