Exploiting the power of NGS to Diagnose Rare Diseases

2019-05-12 by Quick Biology Inc.

There are over 6,000 known rare diseases, many or a significant portion of which affect children’s development, and can be traced to changes, or mutations in a single gene. These rare genetic diseases affect an estimated 30 million Americans^1-4.  Thanks to advances in genome sequencing (NGS), more and more families are receiving an accurate diagnosis for their children’s condition, NGS is having changed diagnostic workflows and provided an unprecedented, simple way of discovering novel disease-associated genes.

See stories by NGS rare disease diagnosis

Georgia’s story:

https://www.gosh.nhs.uk/news/latest-press-releases/first-children-receive-genetic-diagnosis-gosh-part-100000-genomes-project

Walker’s story:

https://www.spectrumnews.org/news/genetics-revealing-rare-childhood-conditions/

Whitmore’s story:

https://www.the-scientist.com/features/exome-sequencing-helps-crack-rare-disease-diagnosis-64277

 Figure 1:  Genetic Diseases where NGS makes the most immediate impact⁴

 Are you ready to sequence your samples of interest? Find More at Quick Biology.

See resource:

1.Rare List: https://globalgenes.org/rare-list/

2.NORD: https://rarediseases.org/

3.GARD: https://rarediseases.info.nih.gov/

4. “What can exome sequencing do for you” Journal of medical genetic 2011 48(9) pp:580-589