Actively Recruiting
Decoding the Genetic Landscape of Skeletal Diseases
Led by Karolinska Institutet · Updated on 2023-05-25
450
Participants Needed
1
Research Sites
626 weeks
Total Duration
On this page
Sponsors
K
Karolinska Institutet
Lead Sponsor
K
Karolinska University Hospital
Collaborating Sponsor
AI-Summary
What this Trial Is About
This 5-year project aims to (1) search for genetic causes for yet unsolved congenital skeletal disorders (GSDs); (2) study consequences of the newly identified pathogenic variants in cells and in transgenic mice, (3) summarize data on natural course and complications for different GSD groups. For patients with unsolved GSD, the investigators search for molecular causes of GSDs using whole genome sequencing (WGS) and total ribonucleic acid (RNA) sequencing. Candidate gene variants are selected using genome or transcriptome sequencing data, clinical findings and screening of omics databases. Causality of the new variants is studied in cells and in transgenic mice models. Molecular and clinical findings are summarized for different GSD groups.
CONDITIONS
Official Title
Decoding the Genetic Landscape of Skeletal Diseases
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Clinically suspected skeletal dysplasia based on previous investigations
- Abnormal height
- Radiographic abnormalities of the skeleton in addition to other syndromic features
- Healthy relatives of the affected study participants
You will not qualify if you...
- No radiographic data available from clinical investigations
- Suspected environmental or multifactorial causes
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Karolinska University Hospital
Stockholm, Sweden, 17176
Actively Recruiting
Research Team
G
Giedre Grigelioniene, MD, PhD
CONTACT
H
Hillevi Lindelöf, MD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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