Rare Disease Genomics

Rare Disease Genomics

The realm of rare diseases is vast and intricate. With over 7,000 known rare diseases and more unearthed each year, they silently affect over 150 million people worldwide, constituting 2–6% of the population. This hidden burden demands attention, innovative approaches, and collaboration.

CD Genomics hinges on the remarkable potential of advanced genomic sequencing technologies, including WGS, WES and targeted sequencing. Through the lens of genomics, we're shining a light on the darkest corners of rare diseases, offering hope, clarity, and a path forward.

The Value of Genomics for Rare Disease Research

Genomics equips researchers with a powerful lens to peer into the intricate genetic architecture underlying rare diseases. This level of precision extends far beyond traditional approaches, enabling us to identify and analyze variations at the molecular level. Such insights have the potential to unlock the secrets of these conditions, offering a deeper understanding of their origins and mechanisms.

For patients and families caught in the labyrinth of undiagnosed conditions, genomics shines a beacon of hope. Advanced sequencing technologies, such as Whole Genome Sequencing (WGS) and Targeted Sequencing, unravel genetic mysteries that have long eluded detection. These breakthroughs facilitate more accurate diagnoses, putting an end to the diagnostic odyssey that many have endured.

CD Genomics Rare Disease Genomics Solution

Whole-Genome Sequencing (WGS)

In numerous studies, whole-genome sequencing (WGS) consistently demonstrates the highest diagnostic yield among all methods. WGS provides broad coverage of the genome, typically over 97%, allowing it to detect a wide range of variant types. These include single nucleotide variants, indels, structural variants, copy number variants, repeat expansions, mitochondrial variants, and paralogs. The comprehensive nature of WGS contributes to its diagnostic success in identifying the genetic basis of rare diseases.

Whole-Exome Sequencing (WES)

Whole-exome sequencing (WES) follows WGS in terms of diagnostic yield. While WES covers a smaller portion of the genome (approximately 1.5%), it is still highly effective in detecting various types of genetic variants. Compared to WGS, WES is more cost-effective and often has better rates of reimbursement, making it a practical choice for diagnosing rare diseases.

Targeted Sequencing – NGS Panel Solution

Targeted sequencing focuses on specific genes known to be associated with a particular rare disease. However, its coverage is limited, with the largest panels covering less than 0.5% of the entire genome. Targeted sequencing is advantageous when the suspected genetic variants are concentrated within these specific genes. It can offer a more cost-effective and efficient option for cases where the disease-causing genes are well-established.

Genomic Panel Description Coverage Strengths
Inherited Disease Panel Targets genes associated with various genetic conditions. Targeted gene coverage Suitable for multiple conditions
Medical Exome Panel Focuses on genes with established clinical relevance. 3800 genes associated with different categories of human genetic diseases. Efficient analysis within a domain
Ophthalmic Panel & Sequencing Concentrates on genes associated with ocular disorders. Ocular gene coverage, 317 genes associated with eye diseases. Ideal for inherited eye conditions
Inherited Heart Disease Panel Targets genes linked to inherited cardiovascular conditions. Cardiac gene coverage. 102 genes associated with heart disease. Precise analysis for heart conditions
Mitochondrial Diseases Panel Focuses on genes related to mitochondrial dysfunction. Mitochondrial gene coverage. 37 genes of the ~17 kb mitochondrial genome. Applicable to mitochondrial disorders
Custom Rare Disease NGS Panel Tailored panel for specific rare diseases based on known gene associations. Customized gene coverage Precision for specific rare diseases

The Benefits of Rare Disease Genomics

* For Research Use Only. Not for use in diagnostic procedures.

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