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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
Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis (ALS) which goes by "Lou Gehrig's disease" develops through the gradual decline of motor neurons leading to muscle control problems. The majority of ALS cases occur without family history but around 10% develop due to inherited genetic mutations. Muscle twitching along with weakness and speech difficulty symptoms intensify as time passes. Protheragen leads ALS research efforts through partnerships with top scientists to deepen disease knowledge.
Characteristics of Amyotrophic Lateral Sclerosis
ALS exhibits numerous clinical symptoms that display significant variations among different patients. The core symptoms of ALS consist of progressive muscle weakening alongside involuntary twitching and stiffness which lead to extreme mobility restriction and eventual paralysis. ALS primarily targets voluntary muscles that control movement, speech functions, and breathing. Genetic mutations in C9orf72, SOD1, and TARDBP genes contribute heavily to ALS while familial cases represent about 10% of all instances. Genetic elements serve as vital keys to comprehending how disease patterns change and develop.
Advancements in Diagnosis and Treatment
Diagnostics Progress
- Genetic Testing: Advances in genetic testing allow precise identification of mutations in genes like C9orf72, SOD1, and TARDBP improving diagnostic precision and enabling potential early detection of familial ALS.
Treatment Advances
- Medication: Current treatments, including Riluzole and Edaravone, aim to slow disease progression and manage symptoms, offering modest extensions in patient survival and quality of life.
- Gene and Stem Cell Research: Innovative research explores gene therapy and regenerative medicine, such as stem cell therapy, to develop groundbreaking treatments targeting the genetic and cellular basis of ALS, aiming to repair and regenerate affected motor neurons.

Our Services

Diagnostic Method Development Services for ALS
- Development and Optimization of Diagnostic Methods: Protheragen aims to create diagnostic tools that both speed up and improve the accuracy of ALS testing to minimize existing diagnostic delays. Our approach to diagnostic procedures incorporates new technologies to boost efficiency while reducing costs.
- Biomarker Discovery and Validation: Our research focuses on identifying and confirming biomarkers like neurofilament light chain (NfL) which we then implement into diagnostic systems to enhance early detection and monitoring of ALS progression.

Therapy Development Services for ALS
- Drug Development and Clinical Trials: Protheragen supports research into new drugs targeting ALS mechanisms like glutamate toxicity and protein aggregation. We are involved in advancing gene therapies and disease-modifying treatments shown to have potential in clinical trials.
- Precision Medicine and Personalized Treatment: Our approach includes creating individualized treatment strategies from genetic analysis to enhance therapy results for ALS patients.
- Stem Cell Therapy and Regenerative Medicine: Protheragen investigates stem cell therapies to provide ALS treatment solutions through regenerative medicine techniques.

Model Development Services for ALS
- Animal Models: Utilization of transgenic mouse and rat models, which overexpress or knock out specific genes like SOD1 and TDP-43, to simulate the pathological processes of human ALS.
- Induced Pluripotent Stem Cell (iPSC) Models: Generation of neurons from patient-derived iPSCs to study early pathological changes in ALS.
- Cell Culture Models: Cultivating neurons and glial cells to explore ALS-related molecular pathways and cell signaling mechanisms.
Protheragen commits itself to promoting innovation and research development for ALS. Get in touch with us now to discover how our extensive services will empower your ALS research projects to achieve major scientific breakthroughs.
Reference
- Ayyadurai VAS, et al. A molecular systems architecture of neuromuscular junction in amyotrophic lateral sclerosis. NPJ Syst Biol Appl. 2025 Mar 17;11(1):27.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.