Creative Biolabs

Rare Diseases Drug Discovery Service

Rare diseases usually mean low incidence but life-threatening or long-term debilitating diseases. Thousands of rare diseases have been documented, but only a fraction of them is well understood and available for treatment. Rare diseases may be caused by bacterial or viral infections, allergies, gene mutations, chromosomal abnormalities, etc., and affect almost all body organs, making the research on the pathogenesis and inhibition of such diseases extraordinarily complicated. With our excellent scientists and cutting-edge technology platform, Creative Biolabs provides reliable, comprehensive, and flexible one-stop rare disease solutions. Some common rare disease services are listed below:

Canavan Disease

Canavan disease (CD) is a rare neurodegenerative disease with no cure, characterized by progressive damage to nerve cells and loss of white matter in the brain caused by markedly elevated N-acetylaspartic acid (NNA) levels, and ultimately leading to intellectual disability, macrocephaly, spasticity even premature death. For CD, in addition to providing in vivo and in vitro models for studying the disease, Creative Biolabs also offers the measurement of NAA content changes, performs tissue sectioning and imaging analysis on organs of interest, therapeutic effects & pharmacokinetic assay of specific drugs, and other related services.

Axial MRI shows changes in the internal capsule and subcortical white matter in CD.Fig 1. Axial MRI shows changes in the internal capsule and subcortical white matter in CD. (Merrill, 2016)

Fragile X Syndrome

Fragile X syndrome (FXS) is a common hereditary intellectual disability derived from the abnormal duplication of the CGG triplet of the fragile X mental retardation 1 gene (FMR1). It can lead to epilepsy, hyperactivity, and mental retardation. For your project, Creative Biolabs provides in vitro/in vivo modeling, gene mutation analysis, protein product detection, therapeutic targets, pharmacodynamic and pharmacokinetic assays, and other one-stop solution services.

Genetic analysis of CGG triplet variants and FXS.Fig 2. Genetic analysis of CGG triplet variants and FXS. (Salcedo-Arellano, 2019)

Maroteaux-Lamy Syndrome

Maroteaux-Lamy Syndrome, also known as mucopolysaccharidosis type VI (MPS VI), is an autosomal recessive genetic disorder caused by deficient lysosomal enzyme activity. Its clinical features mainly include neurological and skeletal hypoplasia and cognitive & behavioral disorders. The most fundamental reason for the pathogenesis of MPS VI is the decreased ASB activity caused by arylsulphatase B (ARSB) gene mutation, which in turn leads to the abnormal accumulation of GAG. At least 40 types of pathogenic variants have been identified. Thanks to our excellent research team, Creative Biolabs provides a series of one-stop solutions including experimental model establishment, gene mutation detection, protein product identification, and drug development and efficacy testing to our clients all over the world.

Distribution of ARSB pathogenic variants.Fig 3. Distribution of ARSB pathogenic variants. (Avanzo, 2021)

Morquio Syndrome

Morquio syndrome, also known as Mucopolysaccharidosis Type IV (MPS IV), is an autosomal recessive metabolic disorder caused by the accumulation of glycosaminoglycans (GAG), and its main feature is lysosomal storage caused by keratan sulfate. According to the different pathogenesis, it is divided into A-type caused by GALNS gene malfunction and B-type caused by GLB1 gene mutation. Creative Biolabs offers flexible and robust one-stop MPS IV solutions, including but not limited to gene mutation detection, GAG protein/molecular testing, disease model construction, and drug development.

Sanfilippo Syndrome

Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is an autosomal recessive lysosomal storage disease that primarily affects brain function. Like several other diseases, it is also caused by the accumulation of GAG molecules. Four distinct pathogenesis of MPS III have been identified, namely inactivation of heparan N-sulfatase caused by mutations in the SGSH gene, decreased α-N-acetylglucosaminidase activity caused by mutations in the NAGLU gene, and transcript decline due to HGSNAT/GNS gene variants. For MPS III, Creative Biolabs provides stable, reliable, and comprehensive one-stop solutions for our clients all over the world.

Sjögren-Larsson Syndrome (SLS)

SLS is a recessively inherited ichthyosis caused by mutations in the fatty aldehyde dehydrogenase enzyme gene on chromosome 17. Pathological hallmarks of SLS are a fish-scale covering on the skin surface and mild paralysis of the nerves in the legs. Creative Biolabs currently provides a series of one-stop SLS solutions including gene sequencing, fatty aldehyde dehydrogenase enzyme activity detection, drug development, and in vitro/in vivo assays to any clients in need.

Angelman syndrome

Angelman syndrome (AS) is a genetic disorder that causes incomplete development of the nervous system and speech impairment. It is usually caused by a lack of function on chromosome 15 called UBE3A, which encodes the highly selective E6-AP ubiquitin ligase. As a leading company in the field of biological sciences, Creative Biolabs provides imaging and histological analysis for AS, gene sequencing, enzyme activity testing, protein determination, and any other one-stop solution for AS.

Batten Disease (BD)

Barton disease is a rare but fatal neurological disease that is inherited through an autosomal chromosome. In addition to the most common CLN3 gene mutation, at least 20 potentially disease-causing genes have been identified. Creative Biolabs provides a range of stable, robust, and reliable one-stop BD solutions from genetic sequencing to drug development.

Our Services

Rare diseases are a major threat to human health and safety. Overcoming or gaining a deeper understanding of the pathogenesis of rare diseases will be a huge advancement in the fields of medicine and biology. With our years of experience in the field of biology and a well-trained R&D team, Creative Biolabs provides one-stop services for the above diseases to customers from all over the world. Our services include disease modeling, tissue extraction and fixation, to provide you with stable, real and high-fidelity pathological slides. We also provide sequencing, editing, modification and knockout services for high-risk genes. In addition, routine molecular biology tests are also optional, including enzyme activity assays, enzyme-linked immunoassays, and various immunochemical tests. Thanks to our cutting-edge technology platform, we are currently providing drug screening, anti-disease molecule synthesis and pharmacokinetic analysis for various rare diseases to customers around the world.

In addition to the above diseases, Creative Biolabs also provides solution services for other rare diseases. Our services include but are not limited to directed transplantation, immunohistochemistry, disease modeling, genome sequencing, mass spectrometry, and neuroimaging. No matter which stage of the project you are in, as long as you want to deepen your research or devote your precious time to other work, we are your trusted partners and offer you repeatable, reliable, authentic, and objective assays and data. Please don't hesitate to contact us for more information.


  1. Merrill, S.T.; et al. Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature. Orphanet Journal of Rare Diseases. 2016, 11: 169.
  2. Salcedo-Arellano, M.J.; et al. Síndrome X frágil: presentación clínica, patología y tratamiento. Gac Med Mex. 2020, 156: 60-66.
  3. Avanzo, F.D; et al. Mucopolysaccharidosis type VI, an updated overview of the disease. International Journal of Molecular Sciences. 2021, 22: 13456.
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