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Rare Autosomal Recessive Disease Gene Identification

Rare autosomal recessive diseases refer to rare diseases caused by recessive mutations on autosomal chromosomes. The gene mutations causing the disease can be determined through genetics and molecular biology methods. With extensive experience in rare disease target identification, our company provides customized rare autosomal recessive disease gene identification services, thereby revealing potential therapeutic targets and providing directions and targets for new treatments and drugs for rare diseases.

Overview of Rare Autosomal Recessive Diseases

In the last decade, scientists have made some progress in deciphering the genetic and molecular mechanisms underlying Mendelian conditions, demonstrating that mutations in an individual's genome can cause rare human diseases in a range of allelic modalities, including monoallelic (autosomal dominant), biallelic (autosomal recessive) and other more complex patterns of inheritance. Among these, rare recessive diseases are difficult to study, such as de novo mutations, multiple genetic variants, and extremely rare cases, and the correct characterization of the phenotype of these diseases and the identification of the causative genes are fraught with challenges.

Rare Autosomal Recessive Disease Gene Identification-1Fig.1 The landscape of pathogenic variability differs drastically between genes. (Xiao, Q., and Lauschke V. M., 2021)

Previously, scientists have typically identified potential genes for rare recessive diseases by positional cloning to determine chromosomal linkage intervals and then sequenced candidate genes. However, the time-consuming and expensive sequencing of large numbers of candidate genes has prevented the identification of the correct disease gene by examining the list of genes within the interval. Recent advances in next-generation sequencing (NGS) and whole-exome sequencing technologies have significantly improved the way geneticists screen for potential genes for autosomal recessive rare diseases.

Features of Rare Autosomal Recessive Diseases

  • The disease-causing gene is located on an autosomal chromosome, and the transmission of the disease-causing gene has nothing to do with gender.
  • No generational transmission is seen, and cases tend to be sporadic.
  • The parents are often disease-free, but both are carriers of the recessive disease-causing gene.
  • When inbreeding occurs, the offspring are at higher risk of developing recessive genetic diseases.

Our Services

With the continuous development and improvement of cutting-edge technology in genetics over the years, our company provides professional services to help clients identify the pathogenic genes of rare autosomal recessive diseases, thereby helping to identify rare disease targets and explain the research mechanism of rare diseases. The services we provide include but are not limited to:

Microarray Technology for Gene Identification

Utilizing microarray technology to help clients identify genes for a wide range of rare recessive diseases through SNP chip homozygosity mapping and candidate gene Sanger sequencing, including polyhydramnios, cortical dysplasia, and focal epilepsy, megalencephaly, nephrocerebellar syndrome, and so on.

Genome Sequencing for Gene Identification

Combining next generation sequencing (NGS) technologies with exome capture methods to help our clients identify and confirm pure variants in autosomal recessive rare diseases and narrow down the selection of disease-causing genes.

In addition, we also provide karyotype analysis and omics analysis services to conduct comprehensive understanding and research at the genome level to help identify targets for rare autosomal recessive diseases.

Why Choose Us?

Rare Autosomal Recessive Disease Gene Identification-2
  • Many years of rare disease research and technical support experience
  • Flexible solutions and one-stop technical service
  • Unmatched project management capability
  • High data quality and reliable analysis.
  • Economical pricing and fast turnaround time.
  • Global reach and distribution network

With high-throughput sequencing platforms and biological interpretation expertise, our company is committed to providing customers with disease-gene identification for rare autosomal recessive diseases as well as specialist data analysis and interpretation services. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.


  • Xiao, Q., and Lauschke V. M. "The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders." NPJ Genomic Medicine 6.1 (2021): 41.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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