Albinism Research Services
Albinism is an inherited disease caused by a genetic mutation that manifests itself in the form of a loss or reduction of skin, hair and eye pigmentation, resulting in white or yellowish skin, light-colored hair, eye vision problems and increased sensitivity to light. Protheragen is a trusted provider of rare disease research services. We are dedicated to helping researchers make progress in genetics, gene therapy, diagnostics and treatment.
Causes and Genetic Mechanisms of Albinism
The cause of albinism is mainly due to mutations in genes such as tyrosinase (TYR) that lead to impaired melanin synthesis. It has been found that albinism involves several genes, including TYR, OCA2, TYRP1, SLC45A2, etc. Mutations in these genes can lead to different types of albinism. For example, OCA1 and OCA2 are associated with oculocutaneous albinism types I and II, respectively. In addition, environmental factors such as ultraviolet radiation and chemical exposure may aggravate the condition.
Figure 1. Schematic representation of normal and albino visual pathways. (Neveu MM, et al., 2013)Prenatal Diagnosis of Albinism
There are various prenatal diagnostic methods for albinism, including fetal scalp biopsy, fetoscopy, chorionic villus aspiration, amniocentesis, and genetic testing. Among them, genetic testing is the preferred method due to its high accuracy and wide applicability.
Treatment of Albinism
Drug therapy: including hormone drugs, immunosuppressants, vitamin D drugs and so on. These drugs modulate the performance of the immune system while suppressing autoimmunity and promoting pigment cell regeneration.
Phototherapy: Phototherapy stimulates melanocyte activity by irradiating the damaged area with specific wavelengths of ultraviolet light, promoting melanin
Gene therapy: By introducing normal function genes or repairing abnormal genes, genetic defects can be corrected and melanin production can be restored.
Disclaimer: Protheragen offers scientific research support before clinical work begins. The above is for informational purposes only. Please visit a regular hospital for information on treatment.
Our Services
Prenatal Diagnostic Method Development Services for Albinism
- Genetic testing methods including PCR amplification, Sanger sequencing, high-throughput sequencing (NGS), multiplexed ligation probe amplification (MLPA), etc.
- Pre-implantation genetic testing (PGT) of embryos
Gene Therapy Development Services for Albinism
The types of therapy development we support:
- Gene replacement therapy
- Targeted gene editing
- Adeno-associated virus (AAV) vectors
- Cellular replacement therapy
We understand the challenges researchers face in developing therapies for albinism in terms of safety, cost and technical difficulty. That's why we are committed to utilizing our extensive expertise and advanced technologies to help researchers achieve more efficient and safer gene therapies.
Model Development Services for Albinism
In Vitro Models
- Human induced pluripotent stem cells (iPSCs)
In Vivo Models
- Hydrogen peroxide-induced albinism model in mice
- Retinal pigment epithelial cell transplantation model
- Albino Guinea Pig
Additional Services
- Genetics & Phenotyping
- Drug Screening & Safety Assessment
With our in vitro model, you can study the molecular mechanisms of albinism, including tyrosinase activity, pigment vesicle maturation, and changes in related signaling pathways. In addition, with our in vivo model, you can gain insight into the pathophysiological features of albinism and potential therapeutic approaches.
Reference
- Neveu MM, Padhy SK, Ramamurthy S, et al. Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives. Clin Ophthalmol. 2022; 16:1569-1587.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.