Rare Disease Diagnostics Development Services

Diagnostic development aims to provide fast and reliable strategies for disease identification and detection. With the continuous innovation in technology of medical sciences, diagnostic development has greatly improved the early diagnosis and individualized treatment of rare diseases. Our company provides comprehensive services and mature solutions to help you speed up the diagnostic development in rare diseases.

Diagnostics Development for Rare Diseases

Patients with rare diseases often face the challenges of long waiting periods for diagnosis and difficulty in accurate diagnosis. This process leads to a deterioration of the condition, causing a significant burden on the patients. In order to improve the diagnostic efficiency and accuracy of rare diseases, a variety of cutting-edge technologies led by high throughput next-generation sequencing technology have been introduced into the diagnosis of rare diseases, which not only deeply explore the genetic pathogenesis, and provide new ideas and directions for treatment and research.

Fig.1 Technologies and methods to diagnose rare diseases when Exome Sequencing (ES) is unrevealing (Marwaha, S.et al, 2022)

• Karyotype of Rare Diseases
  Karyotype reveals the specific statues of a person's entire chromosome. Conditions like Turner syndrome, Klinefelter syndrome, and certain variant forms of leukemia exhibit distinct chromosomal abnormalities. Analyzing the number and structure of chromosomes reveals the relationship between chromosomal irregularities and diseases. It benefits rapid diagnosis of these rare diseases and provides genetic references for family planning.
• Genome and Epigenome of Rare Diseases
  Rare diseases are the result of both genetic and environmental factors. Using the information of genome and epigenome, researchers can identify specific genetic mutations and disclose the regulation of epigenetic modifications on the transcriptome, proteome and metabolome. These results help researchers understand the comprehensive risks on rare diseases and provide personalized precision medicine for patients.
• Biomarkers of Rare Diseases
  Biomarkers reflect the occurrence, development and outcome of rare diseases. Mutated nucleic acids, dysregulated levels of genes, proteins and metabolites, as well as abnormal cell morphology, are specific symptoms of distinct rare diseases, which help researchers understand the genetic mechanisms and pathogenesis of rare diseases, and guide the discovery of therapeutic targets and clinical treatment.

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