Neurofibromatosis
Neurofibromatosis (NF), a multifaceted genetic disorder marked by the growth of tumors impacting the nervous system, is an area of focused expertise for our esteemed company. As a renowned leader in biological research and drug development, we are committed to advancing the comprehension and therapeutic progress of neurofibromatosis. Leveraging our extensive experience spanning numerous years, we provide comprehensive services encompassing the development of drugs and therapies tailored specifically for neurofibromatosis.
Introduction to Neurofibromatosis
Neurofibromatosis (NF) is a group of genetic disorders that can occur anywhere in the nervous system, including the brain, spinal cord, and nerves. Neurofibromatosis includes three different types: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. These types are caused by mutations in specific genes and manifest with characteristic features.
- Neurofibromatosis Type 1 (NF1)
NF1, also known as von Recklinghausen's disease, is the more common form of neurofibromatosis, affecting approximately one in every 3,000 to 5,000 individuals. It is characterized by the presence of café-au-lait patches (flat, coffee-colored birthmarks), freckling in non-sun-exposed areas, neurofibromas (benign tumors on nerves), Lisch nodules (brown spots on the iris), and learning disabilities. NF1 is caused by a faulty gene on chromosome number 17. - Neurofibromatosis Type 2 (NF2)
NF2, on the other hand, is less prevalent and occurs in approximately one in every 33,000 to 40,000 births. It primarily affects the nerves responsible for hearing and balance, leading to the development of non-cancerous tumors called schwannomas. NF2 is caused by a faulty gene on chromosome number 22. - Schwannomatosis
Schwannomatosis is an uncommon genetic disorder characterized by the growth of multiple non-intradermal schwannomas, usually accompanied by neurological symptoms, particularly chronic pain. Unlike NF1 and NF2, it is distinct and has associations with mutations in the genes SMARCB1 and LZTR1. Although there is currently no targeted medical therapy for schwannomatosis, the main focus lies in pain management and preserving neurological function through the use of medications and surgical intervention.
Fig.1 The molecular pathways associated with the development of neurofibromatosis. (Feroze K., and Kaliyadan F., 2021)Targets of Neurofibromatosis Therapy Development
Developing targeted therapies for neurofibromatosis requires a thorough understanding of the underlying molecular mechanisms and signaling pathways involved. Potential targets for neurofibromatosis therapy include proteins involved in cell proliferation, such as the Ras signaling pathway, which is dysregulated in NF1. Other targets may include proteins involved in angiogenesis (blood vessel formation) within tumors, as well as proteins that promote tumor growth and survival.
Fig.1 The chemical compositions of the natural compounds investigated in NF-associated diseases. (Amaravathi A., et al., 2021)Our Services
Through our comprehensive services in diagnostic and therapy development, including the development of small molecule drugs, cell therapy, gene therapy, therapeutic antibodies, therapeutic peptides, and therapeutic proteins, we strive to make significant contributions to the field. By combining cutting-edge research and regulatory expertise, we are dedicated to developing safe and effective drugs and therapy for this challenging disorder.
Our Neurofibromatosis Disease Study Types:
Animal models allow researchers to study the underlying mechanisms of neurofibromatosis and support pharmacokinetics studies and drug safety evaluation of neurofibromatosis drugs. Our company specializes in animal model development services, employing various techniques and methods to replicate the characteristics and progression of neurofibromatosis in animals. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Feroze K., and Kaliyadan F., "Targeted genetic and molecular therapies in neurofibromatosis–A review of present therapeutic options and a glimpse into the future." Indian Journal of Dermatology, Venereology and Leprology 88.1 (2021): 1-10.
- Amaravathi A., et al. "Neurofibromatosis: molecular pathogenesis and natural compounds as potential treatments." Frontiers in Oncology 11 (2021): 698192.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.