Rare neurological diseases are conditions affecting the nervous system that occur infrequently, with examples including Huntington’s disease, Rett syndrome, and Amyotrophic Lateral Sclerosis (ALS). These rare disorders can be classified into various categories based on the affected systems/organs, among which, neuroinflammatory & neuroimmunology-related disorders, movement disorders, and motor neuron disease show higher prevalence. To support …Read More >

Gene therapies are enabling a rapid expansion in the scope of treatable disease.  Adeno-associated viruses (AAVs) are particularly advantageous delivery vehicles for introducing functional genes to specific tissues or cells due to their simplicity, safety, and efficacy. A successful AAV discovery and development pipeline covers basic vector design, in vitro assays, in vivo biodistribution, immunogenicity, …Read More >

Lysosomal storage disorders are rare genetic conditions that cause a buildup of toxic materials in the cells of various organs. Fabry disease (FD) is an X-linked disorder of glycosphingolipid metabolism caused by mutations in the GLA gene encoding alpha-galactosidase A. Manifestations of FD include life-threatening renal, cardiovascular, and cerebrovascular dysfunctions. Current treatments can preserve kidney …Read More >

Advances in the understanding of rare disease biology, coupled with innovative technology and therapeutic platforms, has led to progress in the research and development of drugs for rare diseases. Despite these advances, many rare diseases still lack useful treatments and the need for new approaches remains high. In this webinar, we discuss important trends in …Read More >

RecQ helicases (BLM, WRN, RECQL, RECQL4, and RECQL5) are an important family of surveillance proteins that play critical roles in genome maintenance and stability. Inherited mutations in these helicases are linked to distinct human disease syndromes, as well as cancer. To support the discovery of potent and selective RecQ helicase inhibitors, WuXi AppTec offers a …Read More >

Lysosomal storage disorders (LSDs) are rare genetic conditions that cause a buildup of toxic materials in the cells of various organs.  As part of our rare disease models platform, WuXi AppTec offers an extensive panel of LSD mouse models, including Gaucher disease, Pompe disease, Fabry disease, and Hurler syndrome (MPS I).  Our service platform supports …Read More >

Neurological disorders, such as neurodegenerative diseases, epilepsy, chronic pain, psychiatric disorders, are one of today’s largest unmet medical needs. However, due to poor disease and target understanding, Neuroscience drug discovery can be very challenging. An open access research platform with dedicated neuroscience specialists and integrated services will be an ideal partner throughout your drug discovery …Read More >

In this week’s installment of our “How Does It Work?” video series, we’ll explore Antisense Oligonucleotide Therapy. Errors in DNA, known as gene mutations, can originate harmful proteins that cause disease. However, we can target the mRNA involved in the formation of specific disease associated proteins by using drugs called antisense oligonucleotides. They work by …Read More >