Jeune Syndrome Research Services
Protheragen is a rare disease research service provider, and we offer cutting-edge solutions for Jeune syndrome drug and treatment development. We are committed to helping researchers make significant advances in genetics, diagnostic technologies and treatment strategies.
What Is Jeune Syndrome?
Jeune syndrome (Asphyxiating Thoracic Dystrophy, ATD) is a rare genetic disorder that primarily affects thoracic and skeletal development, leading to severe breathing problems and other complications.
Figure 1. Radiograph of the chest (A) and pelvis (B) in a 2-months-old girl (patient 2) with asphyxiating thoracic dysplasia. (Čechová A, et al., 2019)Genetics of Jeune Syndrome
Jeune syndrome is an autosomal recessive disorder whose pathogenesis is associated with mutations in several genes. Currently, the genes that have been identified to be associated with Jeune syndrome include IFT80, TTC21B, WDR19, and DYNC2CH1. These genes encode ciliary proteins that are involved in the formation and function of cilia, which play a key role in embryonic development. In addition, it has been found that Jeune syndrome is genetically linked to other ciliopathies such as Joubert syndrome.
Treatment of Jeune Syndrome
- Bronchodilators and oxygen therapy can be effective in improving respiratory function.
- Surgery
- Non-invasive chest expansion techniques (e.g., progressive traction devices)
Disclaimer: Protheragen provides preclinical research services only. The above is for informational purposes only and is not intended to be a recommendation for a treatment program.
Our Services
Identification and Analysis of Genes Associated with Jeune Syndrome
Several gene mutations have been identified that are associated with Jeune syndrome, these include:
- IFT80
- DYNC2H1
- WDR19
- TTC21B
- IFT140
- WDR34
- Other related genes: such as WDR60, NEK1, and EVC1/EVC2 have also been found to be associated with Jeune syndrome, but their specific roles need to be further investigated.
Our genetic research methods include:
- Whole-Exome Sequencing (WES)
- Genetic testing technologies, including Sanger sequencing, targeted capture sequencing and massively parallel sequencing, to identify mutations in specific genes
Model Development Services for Jeune Syndrome
In vivo models:
- Off-the-shelf Cauli mouse model
- Knockout and overexpression models
Cellular models:
- In vitro models constructed using human fibroblasts or embryonic stem cells
We are committed to providing new ideas for the treatment of Jeune syndrome through the above model.
Diagnostic Method Development Services for Jeune Syndrome
- Karyotype analysis service
- Omics analysis service
- Biomarker development service
- Artificial intelligence service
We are committed to helping researchers efficiently identify the causative genetic variants of Jeune syndrome through whole-exome sequencing, targeted sequencing, and second-generation sequencing technologies, and providing an important basis for clinical diagnosis and treatment. If your diagnostic product development is facing challenges such as low detection rate and high cost, please choose to work with us, we are willing to work with you to improve the diagnostic accuracy and accessibility of Jeune syndrome.
Reference
- Čechová A, Baxová A, Zeman J, et al. Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene. Prague Med Rep. 2019; 120(4):124-130.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.