Monogenic, rare diseases
Conditions
Interventions
Group 1: (A) Potential participants in this study, i.e. patients with monogenic diseases of unknown genetic cause, will be presented at the Institute of Human Genetics and Genomedicine at RWTH Aachen
Sponsors
Institut für Humangenetik und Genommedizin der Uniklinik RWTH Aachen
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Suspicion of monogenic disease, consent available
Exclusion criteria
Exclusion criteria: Lack of consent
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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. 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 | — |
Countries
Germany
Outcome results
None listed