Dr. Shimamura's Lab

http://labs.fhcrc.org/shimamura/projects.html

SDS research lab.






For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America

Undiagnosed Diseases Program at NIH

Undiagnosed DIseases Program at NIH Visit the link above for more information and FAQs, etc...Click here to read the NIH Press Release

Here is a small bit of what the site says:

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

SBDS Gene, DNA Rpair and Telomere Elongation Study

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

UTMB SDS Bone Marrow Study

UTMB SDS Bone Marrow Study
Dr. Elghetany is studying the bone marrow of SDS patients to identify markers/signs of early myelodysplastic syndrome and leukemia. For more information or to obtain the forms needed to participate, please contact Dr. Elghetany at 409-747-2468 or email melgheta@utmb.edu

NIH bone marrow failure study

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 LeathwoodFor more information about this study click this link: http://marrowfailure.cancer.gov/

SBDS Protein Expression in Peripheral Blood Leukocytes

Many families have participated in this study through CCHMC (Cincinnati Children's Hospital). For contact information, please visit the Shwachman-Diamond America website. From inforamtion given out at CCHMC:

Why is this research being done?

Shwachman-Diamond Syndrome (SDS) is a rare condition which is usually diagnosed in infancy or early childhood. It can affect a wide range of organs but most commonly the digestion and the blood system are involved. Bone abnormalities and poor growth are also often seen in SDS patients. The main hematologic (blood) problem is reduced prduction of some types of white blood cells by teh bone marrow. The pancreas is normally responsible for digesting food, but in SDS it doesn;t make enough digestive enzymes (e.g. trypsin and amylase). However, we have found that people with SDS may have quite different symptoms in teh various organs. In some people, for example, the pancreatic problem is severe and patients need to take extra digestive enzymes with meals. In others, digestive function may improve enough to allow the enzymes to be discontinued. Similarly, some people have more difficulties with their blood problem than others. Some of our research is directed at trying to explain why these differences occur from one individual to another.

Researchers at th Hospital for Sick Children have recently identified the altered gene (SBDS) gene that causes Shwachman-Diamond Syndrome. To date, a number of genetic mutations (mistakes in the SBDS gene) have been found in people who have this syndrome. In addition to the 3 common mutations which account for 75% of all mutations found, there are a ariety of less common mutations.

Healthy people with the normal SBDS gene make SBDS protein in their cells, whereas patients with mutations of teh SBDS gene do not produce this protein or only make very little. This special protein can be measured in blood samples. The amount of the SBDS protein detected in teh blood may vary depending on the tpe of SBDS mutation that is inherited. We think it is important to measure the amount of SBDS protein because it may help us to understand why SDS affects people differently. In addition, we think that measuring the SBDS protein in the blood may be helpful to make a diagnosis of SDS (or rule out the diagnosis), because it is not always possible to screen for all the SBDS mutations.

To do this, we need to test the SBDS protein in a defined group of people, who have common or rare SBDS mutations as well as people who have medical problems that may or may not be due to SBDS mutations. The later group includes children or adults who have a problem in the bone marrow or pancreas and/or skeleton that is suggestive of SDS but no identified mutations in the SDS gene. We will compare the results from people who are healthy as well as people who are known to be carriers such as parents of known SDS patients.

We are collaborating with Drs. Peter Durie and Johanna Rommens at the Hospital for Sick Cildren in Toronto and Dr. Akiko Shimamura at the University of Washington, as well as Drs. Elena Nicolis and MarcoCipolli in Verona, Italy, who will be measuring the corresponding SBDS mRNA in your blood sample. mRNA transmits the information from the gene (DNA) in order to make the protein. Since the SBDS mRNA controls the manufacture of SBDS protein, pople with SBDS mutations may also have very little SBDS mRNA. we will compare the SBDS mutations may alos have very little SBDS mRNA. We will compare the SBDS mRNA content with the SBDS protein level in each patient from our defined groups.