Rare Disease Data Analysis

With over 7000 rare diseases affecting around 300 million people globally,  rare disease data analysis is needed now more than ever. As a bioinformatics provider, Fios Genomics provide data analysis for rare disease genomics data.

Rare Disease Data Analysis

A disease is classed as rare when it affects fewer than 1 in 2000 people. When a disease affects only a small number of people, less information is available about the disease. This often makes rare diseases difficult to diagnose or treat. At Fios Genomics, we offer a range of data analysis services to support rare disease research. Our data mining and landscaping services are particularly useful for enabling rare disease data analysis. We use data landscaping to provide researchers with an overview of datasets available which are relevant to a particular disease. Then, we will advise which datasets could be mined to provide knowledge to help answer a specific research question. Following this, we provide rare disease data analysis by using bioinformatics approaches to analyse the chosen dataset(s) and provide insights relevant to the research question.

Our Expertise

At Fios Genomics we regularly provide data analysis for rare disease research projects. We can do this because, even though bioinformatics analysis is often associated with ‘big data’, we can provide robust analyses of even small data sets. This is particularly important for rare disease research where datasets can be small in size. Recently we have provided bioinformatics services for projects focusing on Prader-Willi Syndrome and Wilson’s disease.

We can help answer rare disease research questions in various ways. For example, our bioinformatics services help with:

• Computation of differentially expressed genes and pathways
• Analysis of immune context for specific rare diseases
• Data landscaping of publicly available data sources to assess literature for specific diseases of interest
• Data mining of publicly available datasets for diseases of interest

Learn more about our experience with rare disease research and the services we offer on our rare disease services page.

Further Your Rare Disease Research

To find out how we can help with your rare disease research project, contact us today. We are always happy to advise on the most suitable bioinformatics analyses to help answer specific research questions. We can arrange a call to discuss your research project, the most suitable analyses to help reach your goals; and then provide a free no-obligation quote for our services.

Rare Disease Facts

What is rare disease?

A disease falls into the rare disease category when it affects fewer than 1 in 2000 people.

How many rare diseases are there?

According to the National Institutes of Health, there are over 7000 rare diseases.

How many people have rare diseases?

Around 300m people globally have rare diseases, according to rarediseaseday.org

Author: Breige McBride, Content and Social Media Manager, Fios Genomics
Reviewed by Fios Genomics Bioinformatics Experts to ensure accuracy

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