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Precision Medicine in Rare Diseases

7% of the population will be affected by a rare disease at some point in their lives. In anticipation of the Precision Medicine & Biomarkers Leaders Summit: USA and in recognition of Rare Disease Day, we have collated some of the top articles on rare diseases and their treatments.

Taking on Rare Diseases with AI

There are thousands of rare diseases with overlapping symptoms and underlying genetics. Advancements in research and development can only be achieved by having comprehensive, deep and accurate patient data and analysing that data with A.I.

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Gene-based Analyses of Rare Variants

The number of individuals with late-onset Alzheimer’s disease is increasing. Take a look at this article on the association analysis of rare variants near the APOE region with CSF and neuroimaging biomarkers of Alzheimer’s disease.

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How Rare Diseases are Showing the Way Toward Precision Medicine

‘While we’ve understood the genetic underpinnings of genetic diseases, we haven’t always gotten the kind of insight into pathophysiology that we might like. In other words, the discovery of the gene mutation doesn’t always explain the neurological disease.’

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Emerging Concepts in Liquid Biopsies

‘Although massively parallel sequencing technologies offer the capacity of detecting singled out rare variants, the error rate of sequencing instruments is typically a limiting factor for accurately calling these variants.’

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Deeper Diagnostic Dive – Cancer & Rare Diseases

The steady migration of NGS from the research lab to a diagnostic tool in the clinical lab is the result of the combined effects of dramatically decreasing costs, improvements in the accuracy and specificity of NGS platforms.

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The Precision Medicine & Biomarkers Leaders Summit is taking place in just two months in Boston, USA. View the agenda now for more details. 

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