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Common Rare Orthopedic Diseases
- Osteogenesis Imperfecta,OI
- Achondroplasia
- Fibrodysplasia Ossificans Progressiva, FOP
- Marfan Syndrome
- Melorheostosis
- X-linked Hypophosphatemia, XLH
- Paget's Disease of Bone
- amyotrophic lateral sclerosis, ALS
- spinal muscular atrophy, SMA
- Rare Bone Tumors
- Klippel-Trenaunay Syndrome
- Ehlers-Danlos Syndrome, EDS
- Ultimate Guide to Rare Orthopedic Diseases Research Services
- Special Technology Service Platform
Marfan Syndrome
Marfan Syndrome is a rare genetic disorder that presents both dangerous heart defects and distinct skeletal characteristics right from birth. Protheragen leads research initiatives alongside top scientists to expand knowledge about this disease while working towards creating new therapies that will better the lives of affected individuals.
Characteristics of Marfan Syndrome
The clinical signs of Marfan Syndrome demonstrate substantial variation across different patients. Patients often display extended limbs and arachnodactyly while also showing spinal curvature problems including scoliosis and chest wall deformities such as pectus excavatum. Aortic root dilation together with aortic dissection represents serious cardiovascular risks that can result in life-threatening situations. Eye conditions including lens dislocation and myopia frequently occur along with skin elasticity and potential lung and nervous system complications. Diagnosis of the syndrome requires both physical symptom analysis and FBN1 gene mutation testing to provide a precise understanding of the condition.
Advancements in Diagnosis and Treatment
Diagnostics Progress
- Genetic Testing: Enhanced sequencing technology increases accuracy; prenatal testing is available for at-risk families.
- Imaging Techniques: MRI and ultrasound aid in early detection of aortic complications.
Treatment Advances
- Medication: Antihypertensive drugs and beta-blockers control risks to the cardiovascular system and aortic conditions.
- Stem Cell Research: Promising future treatments through tissue engineering.
Fig. 1 Pathogenesis of Marfan syndrome. (Vakalopoulos DG, et al., 2025)Our Services
Diagnostic Method Development Services for Marfan Syndrome
Researchers receive support from our company in developing diagnostic methods for Marfan Syndrome. Our diagnostic services include whole exome sequencing and PCR mutation screening as well as NGS for precision-based results together with Sanger sequencing and MLPA. Our team supports prenatal and preimplantation genetic diagnosis (PGD) while offering genetic counseling to help with risk evaluation and customized management plans.
Therapy Development Services for Marfan Syndrome
We offer therapy development services for Marfan Syndrome, supporting research on β-blockers treatments. We also specialize in gene therapy targeting TGF-β pathways and stem cell therapy using iPSCs for innovative treatment solutions.
Model Development Services for Marfan Syndrome
- Mouse Models:
- mgDloxPneo and Fbn1 mutation models for genetic and phenotypic studies.
- C57BL/6 and 129/Sv strains for phenotype analysis.
- hiPSCs Models: Used for replicating aortic pathology and drug screening.
- Pig Models: FBN1 mutation models using CRISPR for human-like anatomical studies.
Protheragen focuses on creating innovative research methods to explore marfan syndrome. Get in touch with us now to discover how our services can enhance your research projects and create significant breakthroughs in marfan syndrome.
Reference
- Vakalopoulos DG, et al. Refractive Alterations in Marfan Syndrome: A Narrative Review. Medicina (Kaunas). 2025 Feb 1;61(2):250.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.
