Prime Targets for Whole Genome Sequencing: Rare Diseases

Hannes Smarason

Genome Sequencing |Personalized Medicine | Transforming Health Care

There is a documented history of conditions classified as “diseases of unknown origin”—in these cases, the biological mechanisms that led to the disease are simply unknown or have not yet been discovered.

Yet as we learn more every day, certain diseases have clear links to underlying genetic mutations.

Analyzing the genome sequence of a patient diagnosed with one of these diseases might help lead to a better understanding of the disease etiology and potential treatment strategies, particularly in the area of rare genetic disorders.

Promise of Sequencing

Identifying Rare Diseases

• These children and their families often spend years undergoing testing and experimental treatments for a wide range of diseases to attempt to properly diagnose and treat them, usually accompanied by a very high financial and emotional burden.

• Rare diseases are an area of significant opportunity for improved diagnosis and treatment through the use of genomics.

• Every year there are new cases of children with “unknown” diseases, many of which are likely related to a hereditary genetic disorder.

…that by offering whole genome sequencing to patients with a suspected rare genetic disease, mutations that might be causing the disease may be identified, and thus correct treatment can be employed much earlier to eliminate the burden of a long-term diagnostic and treatment odyssey.

The Hope Is…

New Collaborations Aim to Fill in Pieces of the Puzzle• University College Dublin’s Academic Centre on Rare Diseases (ACoRD) in

Ireland, world renowned for its discoveries in rare genetics, is using NextCODE’s genome analysis technology to power large-scale, sequencing-based diagnostics programs and genome discovery efforts to study autism and rare pediatric disorders.

• ACoRD will focus on some of the most challenging areas to inform and provide new directions for research that may help lead to diagnosis, treatment, and even prevention for these disorders.

• ACoRD is well positioned to become a focal point for multinational research and clinical diagnosis in conditions that require the gathering and collective analysis of genomes from many participants in many countries.

New Collaborations Aim to Fill in Pieces of the Puzzle

• The ANZAC Research Institute in Sydney, Australia is using the latest DNA sequencing and interpretation technology from NextCODE to mine genomes in search of genetic mutations that are associated with X-linked Charcot-Marie-Tooth syndrome (CMTX).

• Recognized for its expertise in familial genetics, ANSAC sought out the unique capabilities of the NextCODEanalysis platform to investigate spaces outside the normal coding areas of genes.

• The aim is as pioneering as the technology: to identify not just single SNPs but also structural variants that conventional approaches have not been able to search for systematically and link to CMTX.

CMTX is a rare, progressively debilitating neurodegenerative disorder can be caused by mutations in many different places in the genome, including the X chromosome. There is no cure or drug treatment available.

With dedicated research minds and the latest technology, these programs aim to use insights from genome sequencing to understand rare diseases, find targets for the development of new therapies, and improve lives.