Rare diseases
Conditions
Interventions
proband:No
Other members of pedigree:No
control:No
Sponsors
Institute of Rare Diseases, WestChina Hospital, Sichuan University
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Patients with clinical diagnosis of 121 rare diseases listed in the First Batch of Rare Disease Catalogue jointly released by five ministries and commissions including the National Health Commission in 2018; Patients with rare diseases whose main phenotypes correspond to known genetic etiology; 3. Patients with extreme forms of common diseases (e.g., extremely early onset or unusually severe); 4. Patients with unknown clinical diagnosis who need aided diagnosis by genome sequencing; 5. One or more individuals in one generation are suspected of Mendelian genetic disease; 6 Members of Mendelian genetic disease pedigree with recessive or dominant inheritance who were valuable for genetic diagnosis; 7. Patients with rare diseases whose genetic etiology cannot be determined by specific candidate gene panel test or other tests; 8. Patients with rare diseases who are willing to sign informed consent.
Exclusion criteria
Exclusion criteria: 1.Genetic diagnosis has been confirmed for patients with similar or identical phenotype in pedigree; 2.Patients with rare diseases with definite environmental factors; 3.Patients with rare diseases who gave up participating in the project after signing the informed consent.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Genomic variation; | — |
Secondary
| Measure | Time frame |
|---|---|
| Phenotypic variation; | — |
Countries
China
Contacts
Public ContactChengJing
Institute of Rare Diseases, West China Hospital, SiChuan University
Outcome results
None listed