Rare Autosomal Dominant Disease Gene Identification

Autosomal dominant disease implies that one of the two copies (monoallelic) of a given gene on the autosome has a defect that causes the illness. Our firm has substantial experience in identification of target areas for rare diseases. In particular, we identify genes for rare autosomal dominant diseases. Our flexible solutions can efficiently augment your discovery and identification of rare disease targets and significantly accelerate the development of therapies for rare diseases.

Introduction to Rare Autosomal Dominant Diseases

People suffering from rare autosomal dominant diseases are typically heterozygous, having one normal allele and one affected allele. Occasionally, a rare autosomal dominant disorder is caused by a de novo mutation in one parent’s germ cell (or in early embryonic development); these disorders are termed as sporadic disorders. Numerous pathologies affecting diverse biological systems in different tissues tend to have an autosomal dominant inheritance pattern.

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Fig.1 Identification strategies for disease-causing genes or mutations associated with rare and undiagnosed complicated diseases. (Wang, Gang, et al., 2022)

Next-generation sequencing (NGS) is a rapid and simple technique for detecting both previously characterized and novel mutations in cases of rare autosomal dominant and sporadic disorders. The implementation of advanced and more sophisticated molecular technologies such as NGS increases the understanding of the pathogenesis of rare autosomal dominant disorders.

Challenges in the Study of Rare Autosomal Dominant Diseases

Autosomal dominant disorders can develop in three ways; namely, through haploinsufficiency, dominant negative, or gain-of-function effects. Although these diseases have some known etiologies, deeper comprehension on biological processes is still needed. Identification of causative genes still remains a challenge. Uncommon homozygous and dominant diseases are found to be more complex due to incomplete penetrance, variable expressivity, hypomorphic alleles, and mosaicism as well.

Our Services

To help customers identify the causative genes and pathogenesis of rare diseases to advance the research and development of rare disease therapies, our company focuses on further improvements in next-generation sequencing (NGS) technology and can provide whole-genome sequencing (WGS) and whole-exome sequencing (WES) services for disease gene identification, thereby supporting target research on rare autosomal dominant diseases.

Gene Panels Development

Use NGS-based methods to provide you with customized gene panel services related to autosomal dominant rare diseases, as an important tool and method for genetic screening and disease analysis of rare autosomal dominant diseases.

Mutation Pathogenicity Assessment

Helping customers identify known, novel, and rare variants in exome targets, rare variants causing protein truncations, splice variants, and non-synonymous single nucleotide variants (SNVs) and assess the pathogenicity of these variants.

Mosaic Variation Identification

Providing mosaic variation identification services to detect and quantify deleterious mosaic mutations in rare genetic disorders such as autosomal dominant polycystic kidney disease (ADPKD).

Why Choose Us?

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Cutting-edge technology and equipment
High-quality products and services
Stringent quality control and testing
Providing standardized upstream platform solutions
Competitive pricing and fast turnaround time
One-stop platform with an experienced technical team

Project Workflow

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Our company aims to apply innovative technologies to the analysis of genetic variation to help our customers better understand the molecular mechanisms of rare autosomal dominant and sporadic diseases. Our mission is to provide innovative and scalable solutions and professional technical support to meet our customers' needs. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.

Reference

Wang, Gang, et al. "Rare and undiagnosed diseases: from disease-causing gene identification to mechanism elucidation." Fundamental Research (2022).

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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