SNP is a DNA sequence variation occurring when a single nucleotide adenine (A), thymine (T), cytosine
1
(C) or guanine (G) in
SNP
the genome (or other
2
shared sequence) differs between members of a species or paired chromosomes in an individual. (Source: https://ghr.nlm.nih.gov/ primer/genomicresearch/snp)
=A
=T
=C
=G
Christopher Wardell, Ph.D., an experienced bioinformatician with particular expertise in next-generation sequencing, joined the Myeloma
resolution technology is essential. In terms of sample quantity, the Myeloma
Institute in July. Educated and trained in the
Institute is unsurpassed. “We have one of the
UK, Wardell was a lead bioinformatician at The
largest repositories of myeloma specimen
Institute of Cancer Research in the UK and
samples in the world. Using today’s modern
a research scientist with the Laboratory for
tools, we can take current data, compare it with
Genome Sequencing Analysis at the RIKEN
data in the repository, and use this information to
Center for Integrative Medical Sciences in Japan.
direct future research and treatment strategies.
“We are aiming to spot the differences — to see what makes a normal cell become cancerous,” Wardell said. “By comparing the normal genome
This puts us in a distinctive position,” Wardell said. Having so much data enables drill-down to
of a patient to the genome of their tumor, we
a very detailed level of information. Given the
can identify the DNA changes that predispose
volume of data, the process is time consuming.
and cause someone to develop cancer.”
“But, processes that have been slow in the
The ultimate goal is personalized medicine.
past are speeding up. Computational speed and
“We can sequence a person and their cancer
capacity doubles every 18 months,” Wardell said.
and then target treatment to the mutation or
Recognizing the importance of bioinformatics
signaling pathway that is out of kilter,” Wardell
for developing curative therapies, the Myeloma
said. “We can get better answers to questions of
Institute has a dedicated team of five specialists,
diagnosis and treatment.”
including Wardell, who is the team leader. They
The more complicated the question, the more samples that are needed. Similarly, to determine
6
how frequently a certain gene is mutated, high-
are part of the first generation of full-time bioinformaticians, and they are poised to help
myeloma.uams
edu