The Genetic Basis of Congenital Heart Disease in Africa
Study Details
Study Description
Brief Summary
Recent advances in genomic techniques are making possible a new wave of genetic discovery in congenital heart disease (CHD). Existing data suggests that CHD occur in Sub-Saharan Africa at frequencies similar to the rest of the world. In this application, we propose to utilize the unique advantages of Sub-Saharan Africa - a combination of the most genetically diverse populations in the world and of diminished environmental background effects (i.e. low prevalence of smoking, alcohol abuse, obesity in comparison to western countries) - to better understand the genetic basis for congenital heart disease. We will couple next generation genomic techniques with more traditional gene discovery methods to investigate CHD in two African countries: Uganda and Nigeria. The inclusion of syndromic and non-syndromic CHD observed in these populations as well as careful phenotyping (including echocardiography) will greatly enhance our potential to provide insight into the genetic architecture of CHD in African populations. To accomplish this, we plan to enroll families, in whom members have congenital heart malformations consistent with an error of early human development in our research protocol. Patients will be enrolled at the Uganda Heart Institute in Kampala, Uganda, and at the Department of Pediatrics, College of Medicine, University of Lagos, Nigeria, with the potential to include other African sites. High throughput genomic studies will be done at the NIH.
Condition or Disease | Intervention/Treatment | Phase |
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Detailed Description
Recent advances in genomic techniques are making possible a new wave of genetic discovery in congenital heart disease (CHD). Existing data suggests that CHD occur in Sub-Saharan Africa at frequencies similar to the rest of the world. In this application, we propose to utilize the unique advantages of Sub-Saharan Africa - a combination of the most genetically diverse populations in the world and of diminished environmental background effects (i.e. low prevalence of smoking, alcohol abuse, obesity in comparison to western countries) - to better understand the genetic basis for congenital heart disease. We will couple next generation genomic techniques with more traditional gene discovery methods to investigate CHD in two African countries: Uganda and Nigeria. The inclusion of syndromic and non-syndromic CHD observed in these populations as well as careful phenotyping (including echocardiography) will greatly enhance our potential to provide insight into the genetic architecture of CHD in African populations. To accomplish this, we plan to enroll families, in whom members have congenital heart malformations consistent with an error of early human development in our research protocol. Patients will be enrolled at the Uganda Heart Institute in Kampala, Uganda, and at the Department of Pediatrics, College of Medicine, University of Lagos, Nigeria, with the potential to include other African sites. High throughput genomic studies will be done at the NIH.
Study Design
Arms and Interventions
Arm | Intervention/Treatment |
---|---|
Congenital Heart Disease Congenital Heart Disease |
Outcome Measures
Primary Outcome Measures
- Genetic Diagnosis [One patient visit only]
The primary outcome is a genetic diagnosis for congenital heart disease. There are no treatments.
Eligibility Criteria
Criteria
- INCLUSION CRITERIA:
The study will include affected individuals and their affected/or unaffected family members. Family members will include parents and siblings. The goal will to be obtaining a minimum of a trio (affected and both parents) to increase probability of finding gene mutations. Clinical criteria for inclusion is defined as presence of a congenital cardiac malformation related to errors in early human development. The diagnosis of congenital heart disease (presence of a congenital cardiac malformation thought to be related to errors in early human development) will be made by a cardiologist on our team based on echocardiogram (performed by C.S., A.B. or E.E.), physical examination, medical history, and review of medical record.
EXCLUSION CRITERIA:
Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent.
Contacts and Locations
Locations
Site | City | State | Country | Postal Code | |
---|---|---|---|---|---|
1 | Childrens National Medical Center | Washington | District of Columbia | United States | 20010 |
2 | College of Medicine, University of Lagos | Lagos | Nigeria | ||
3 | Chiang Mai University | Chiangmai | Thailand |
Sponsors and Collaborators
- National Human Genome Research Institute (NHGRI)
- University of Lagos, Nigeria
- Uganda Heart Institute, Kampala, Uganda
Investigators
- Principal Investigator: Adebowale A Adeyemo, M.D., National Human Genome Research Institute (NHGRI)
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 999913207
- 13-HG-N207