Investigation of the genetic basis of unexplained monogenic diseases
Recruiting
- Conditions
- Monogenic, rare diseases
- Registration Number
- DRKS00034194
- Lead Sponsor
- Institut für Humangenetik und Genommedizin der Uniklinik RWTH Aachen
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- All
- Target Recruitment
- 3000
Inclusion Criteria
Suspicion of monogenic disease, consent available
Exclusion Criteria
Lack of consent
Study & Design
- Study Type
- observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method The aim of this study is to identify causative mutations in coding and non-coding regions of the genome in affected individuals with a congenital, either defined or unclear disease pattern, the cause of which has remained unclear even after comprehensive interdisciplinary clinical and conventional molecular genetic diagnostics. <br>Furthermore, we would like to achieve a better characterization of patient groups or disease groups through molecular genetic analyses, for which the clinical spectrum can then be evaluated and, if necessary, clinical diagnostic criteria can be developed
- Secondary Outcome Measures
Name Time Method