Protocol Number: 01-HG-0106

Title:

National Human Genome Research Institute Training Protocol

Number:

01-HG-0106

Summary:

The National Human Genome Research Institute (NHGRI) provides medical genetic specialty training at the graduate and post-graduate levels in clinical genetics, medical genetics, laboratory genetics and genetic counseling. The professional staff of the NHGRI must also maintain their clinical skills and promote training opportunities. Clinical experience with a broad spectrum of genetic disorders is required for future certification and re-certification. Recruitment of subjects representative of the broad field of medical genetics practice is critical to the training experience. This protocol provides NHGRI trainees and professional staff the opportunity to evaluate a widely diverse population of genetics patients who do not meet the criteria for existing research protocols.

Patients and their relatives at risk for chromosomal disorders, mendelian disorders of childhood or adult onset, congenital anomalies and birth defects, syndrome identification and dysmorphology, familial cancer syndromes and complex trait disorders may be eligible for evaluation and genetic counseling under this protocol.

Participants may be seen in various outpatient clinics within the National Institutes of Health. Rarely, an inpatient stay may be required. During these visits, patients will provide a medical history and undergo a medical evaluation, including diagnostic tests indicated for the individual patient's condition. These may include laboratory testing, such as urinalysis blood tests, imaging tests, questionnaires, neurological testing or evaluation, physical examination and specialized tests and procedures where indicated by standard and accepted medical practice.

Sponsoring Institute:

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: Yes

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

Any person and their at-risk relatives with a known or suspected genetic disorder felt to be suitable for training is eligible to participate in this protocol.

Determination for eligibility will be made by review of prior records.

EXCLUSION CRITERIA:

There are no exclusion criteria for participation in this study.

Special Instructions:

Currently Not Provided

Keywords:

Clinical Education

Laboratory-Based Education

Genetic Counseling

Diagnosis

Medical Genetics Assessment

Genetic Disorders

Recruitment Keyword(s):

Genetic Assessment

Genetic Counseling

Condition(s):

Genetics

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Human Genome Research Institute

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s): Not Provided

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Clinical Research Informatics, CC.

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National Institutes of Health Clinical Center Bethesda, Maryland 20892. Last update: 01/30/2009