Bioinformatics Analysis for Rare Disease



A rare disease refers to a disease that occurs only in a very small number of people, so it is also called orphan disease. Most rare diseases are genetic diseases. Even if the symptoms of the disease are not born, they will accompany the patient for life. Many rare diseases develop early in a patient's life, and approximately 30% of children with rare diseases die before the age of 5. According to the definition of the World Health Organization (WHO), rare diseases are diseases in which the number of patients accounts for 0.65‰ to 1‰ of the total population. Countries around the world have certain differences in the identification standards of rare diseases according to their specific conditions. The United States defines a rare disease as a disease with fewer than 200,000 patients (or less than 1/1500 of the population). Rare diseases include α-thalassemia, Acute Promyelocytic Leukemia (APL), acromegaly, phenylketonuria, long QT syndrome, lysosomal storage disease, etc.

Application of Bioinformatics in the Research of Rare Disease

Existing studies have shown that most rare diseases are genetic diseases, so it is particularly important to carry out genetic research and molecular diagnosis of such diseases. Next-generation sequencing technology (NGS) has the advantages of high throughput and high sensitivity, and is currently the main research method for identifying pathogenic genes in rare diseases. With the continuous improvement of NGS technology and the rapid development of bioinformatics technology, in recent years, technologies such as whole-exome sequencing and targeted gene sequencing are gradually being applied to the field of clinical molecular diagnosis. It has played an important role in improving the diagnosis rate of rare diseases and improving the treatment effect.

Rare DiseaseFig 1. Risk of bias summary table search 1 (primary research). (Demirdas S, et al. 2015)

How We Can Help Your Rare Disease Research

By combining our expertise in bioinformatics analysis with our extensive knowledge in the field of rare diseases, from pre-clinical to clinical, we can support your research at every stage. Our bioinformatics service can help:

  • Multi-omics analysis: differentially expressed genes or protein analysis, as well as functional annotations such as biological function and metabolic pathway enrichment analysis, identification of susceptible genes, drug targets, etc.
  •  Meta-analysis: through the integration of phenotype, medication, environmental or genetic factors, to understand the factors related to the occurrence of rare diseases or the efficacy of drugs.
  •  Variation analysis: SNP genotype analysis and DNA sequence analysis of rare diseases from the genetic level, mining the genetic mechanism of rare diseases, and providing help for the diagnosis and treatment of rare diseases.
  •  Data mining: Use bioinformatics technology to mine international biomedical public data, find the metabolic regulation pathways, key genes and interaction targets of various molecules, and provide support for molecular typing and targeted drug development. 

In addition, we will use cutting-edge analysis technology to conduct personalized data analysis according to the customer's project analysis needs. 

An Example of a Data Analysis Process

CD Genomics provides a one-stop bioinformatics data analysis service, and customers only need to provide raw data. The flowchart below shows the general process of publication search and study selection for the systematic review.

Rare Disease

Service Process

Rare Disease

As one of the experienced biological information analysis service providers, CD Genomics provides established, cost-efficient, and rapid turnaround rare diseases related data analysis services for biomedical researchers. For rare disease study, CD Genomics not only provides bioinformatics data analysis services, but can also help researchers formulate appropriate technical routes and provide related technical services according to the research purposes of the researchers. If you have any questions about the data analysis cycle, analysis content and price, please click online inquiry.

What's More 

Biomedical-Bioinformatics, as a division of CD Genomics, provides researchers with high-quality personalized data analysis and chart production services. For NGS-data analysis, we provide a series of omics data analysis services such as whole genome, whole exome, transcriptome, proteome, DNA methylation, microbiome, etc. Our analysts can help you answer key questions and reduce wet lab work to hasten the discovery process. For more detailed information about data analysis, please feel free to contact us.


  1. Demirdas S, et al. Bone health in phenylketonuria: a systematic review and meta-analysis[J]. Orphanet J Rare Dis. 2015 Feb 15; 10: 17.
  2. Satoh Y, et al. The Significance of Genetic Testing for Acute Promyelocytic Leukemia[J]. Rinsho Byori. 2017 Jan;65(1):37-43. Japanese. PMID: 30695510.

* For research use only. Not for use in clinical diagnosis or treatment of humans or animals.

Online Inquiry

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