Duke University

Dr. Douglas Marchuk’s team at Duke University is studying several forms of vascular malformations, with one focus of research dedicated to hereditary cerebral cavernous malformations.  There are three distinct gene mutations that can result in CCM known and identified at this point-- CCM1 (KRIT1), CCM2 (malcavernin), and CCM3 (PDCD10). Duke researchers are currently looking for gene mutations responsible for CCM in families that do not have mutations on any of the already identified genes. Dr. Marchuk’s lab is also performing studies to understand the function of these genes in the development of a cavernous malformation.

The team is interested in families with a large number of affected individuals that have been diagnosed with CCM by MRI or in tissue donations from any individuals undergoing surgical removal of a cavernous angioma. Dr. Marchuk’s study asks for a medical history, consent form, and blood sample for each person entered. Those donating tissue will also be asked to submit a blood sample, and will need to inform their surgeon’s office of their desire to participate in this research.

For more specific information, the physician, genetic counselor, or patient may contact the family studies coordinator at any time.

The contact information is:
Main Contact: Tracey Leedom, M.S.
Genetic Counselor
919-668-5335
marchuk.research@mc.duke.edu

Douglas Marchuk, Ph.D.
Principal Investigator
Duke University Medical Center
Department of Molecular Genetics and
Microbiology
Campus Box 3175
Room 277 CARL Bldg., Research Dr.
Durham, NC 27710

Johns Hopkins Medical Research

Dr. Daniele Rigamonti heads an organization called the Center for Inherited Neurovascular Diseases, which researches the genetic basis for cavernous angiomas and other neurovascular illnesses.  CIND prefers subjects with a family history of cavernous angioma, but welcomes participation by those with apparently sporadic cavernous angiomas as well.  CIND will reimburse study participants for the cost of having their blood drawn.

The web site for CIND provides useful information about the CIND research.  The site is in the process of being moved and restructured; the contact links are no longer viable.  Temporarily, study enrollment should be initiated by a phone call to Sharmila Basu at (410) 614-0729.

Dr. Daniele Rigamonti
Center for Inherited Neurovascular Diseases
The Johns Hopkins Hospital
Department of Neurosurgery
Meyer 5-181
600 N. Wolfe Street
Baltimore, MD 21287
Research phone: 410-614-0729
Fax: 410-955-9126

Northwestern University/University of Colorado

Evanston Northwestern Healthcare and Northwestern University Feinberg School of Medicine, Evanston, Illinois and the University of Colorado Health Sciences Center, Denver, Colorado.

Research is focused on genetic causes and gene interactions involved in lesion formation, growth and hemorrhage. Research is funded by the National Institutes of Health and by private, institutional and philanthropic support. Specific projects include genotyping of familial cases (determination if family carries CCM1 or CCM2 gene) in collaboration with Dr Judith Gault at the University of Colorado, differential gene expression in lesions surgically excised (genome chips and differential proteomics), novel research on genetic modifiers (factors other than the primary gene that may influence disease aggressiveness), and studies focusing on the potential role of inflammation in lesion progression and bleeding.

Patients are encouraged to participate in our research if (1) they are undergoing planned surgical excision of a CCM lesion, or if (2) they have or are suspected as having familial form of the disease. Instructions for contacting our team for research participation are as follows:

* For cases where surgery for lesion excision is planned, please ask your surgeon to contact Dr Awad by email at the above address, or by phone at (847) 570-1440. Consent forms will be sent to the surgeon, along with instructions for collection and deep freezing of a piece of the fresh surgical specimen and materials for forwarding it to our laboratory.

* For cases with known or suspected familial disease, please contact Dr Awad as described above, or Dr Judith Gault at (303) 315-1071.

All patients who wish to participate in research studies will be asked to sign an approved consent form which summarizes their rights and protections as a research subject and the nature of the project. Summary of clinical information will be obtained by phone or from the patient’s doctor.  All information about patients enrolled in research studies is totally confidential.

Issam A. Awad, MD, MSc, FACS, MA (hon), Principal Investigator
Professor of Neurosurgery
Northwestern University
Feinberg School of Medicine
Evanston Northwestern Healthcare
2650 Ridge Avenue, Room 4215
Evanston, IL 60201
Phone 847 570-1440
Fax 847 570-1442
Hospital email iawad@enh.org

Judith Gault, PhD, Co-investigator Genotyping and Molecular Genetics
Phone (303) 315-1071
Judith.gault@uchsc.edu

Robert Shenkar, PhD, Co-investigator Cell and Molecular Biology and Tissue Studies
Phone (847) 570-2177
rshenkar@enh.org

Yale University

Dr. Murat Gunel, along with Dr. Richard Lifton, is working on the neurogenetics and pathobiology of cavernous angiomas.  He is recruiting individuals with a family history of the illness.

Dr. Murat Gunel
Yale University School of Medicine
333 Cedar Street
P.O. Box 208082
New Haven, CT  06520-8082
Phone: 203-737-2096
Email: murat.gunel@yale.edu

Nurse coordinator: Andrea Chamberlain, andrea.chamberlain@yale.edu