There is great opportunity ahead for the use of genome sequencing and analysis to diagnose and treat patients with rare genetic disorders and cancer.

1. Prime Targets for Whole Genome
Sequencing: Rare Diseases
Hannes Smarason
Genome Sequencing |Personalized Medicine | Transforming Health Care

2. 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.

3. Promise of Sequencing
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.

4. Identifying Rare Diseases
• 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.
• 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.

5. The Hope Is…
…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.

6. 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.

7. 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 NextCODE
analysis 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.

8. 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.