This study is NOT currently recruiting participants.
Number
97-HG-0192
Sponsoring Institute
National Human Genome Research Institute (NHGRI)
Recruitment Detail
Type: Completed Study; data analyses ongoing Gender: Male & Female Min Age: 18 Max Age: N/A
Referral Letter Required
Yes
Population Exclusion(s)
None
Keywords
Rare Diseases; Consanguinity; Natural History
Recruitment Keyword(s)
Condition(s)
Genetic Disease
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Human Genome Research Institute
The Amish and Mennonite peoples have a high rate of intermarriage within their individual communities, with a resulting high incidence of inherited disorders. Many of these disorders, such as cartilage-hair hypoplasia, Ellis-van Creveld syndrome, and others, are rarely seen outside these communities. New research using state-of-the-art methodologies in genetics will add to current knowledge about the causes and symptoms of these disorders that will eventually aid in their diagnosis and medical management.
Patients with inherited disorders that occur frequently in the Amish and Mennonite populations and their family members may be eligible for this study. Individuals from both within and outside these communities may enroll.
Participants will be evaluated with a review of their medical records and their personal and family medical history and a brief physical examination. A small tissue sample will be collected for genetic studies. This will be either a blood sample (3 teaspoons from adults and 1 to 3 teaspoons from children, depending on their size) or a mouth swab (cells removed from inside the cheek by gentle brushing). Some participants may undergo additional procedures, such as diagnostic X-rays, brain scans, echocardiogram (heart ultrasound) or other studies.
If genetic testing shows a gene change (mutation), the participant will be notified to that effect in writing and offered counseling in their home regarding the test results and their implications.
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INCLUSION CRITERIA: Subjects are divided into two groups: Group A: Patients and their families with known or suspected Mendelian or complex traits, who will be enrolled in the molecular genetics and phenotypic characterization study. Informed consent will be obtained from each of these subjects. Group B: Those individuals who are listed in the Fisher Family History and multiple other genealogy books will be included in the AGD database.
Subjects are divided into two groups:
Group A:
Patients and their families with known or suspected Mendelian or complex traits, who will be enrolled in the molecular genetics and phenotypic characterization study.
Informed consent will be obtained from each of these subjects.
Group B:
Those individuals who are listed in the Fisher Family History and multiple other genealogy books will be included in the AGD database.
Principal Investigator
Referral Contact
For more information: