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| Novel Device for DNA Profiling |
Rape is a type of sexual assault that measures up
as an act of criminal violence. According to RAINN (Rape, Abuse and Incest
National Network), every 107 seconds someone in the US is sexually assaulted
and that adds up to 293,000 victims of rape/sexual assault every year. Since
each person carries a unique DNA code, DNA based evidence serves as an
important tool in identifying the perpetrator and achieving justice for the
victim. Although DNA can be extracted from a wide range of crime scene related
items such as blood, semen, hair, saliva or bones, the quality and quantity
vary widely thus restricting the downstream analysis. Purification of DNA from
variety of samples and the sample processing time are the rate limiting steps
in obtaining biological evidence from a crime scene. The time-consuming and
labor-intensive workflow involved in processing samples has resulted in huge
DNA backlog thus enabling victimization.
The challenge is looking for a novel, portable
user-friendly device that will enable rapid automated DNA profiling at the
crime scene. This will help in identifying the perpetrator faster and prevent
future sex assaults from happening.
Significance
A successful solution of the challenge would help
in following ways:
• Rapid DNA profiling will help in faster assembly
of databases of suspects and can be particularly useful in all cases of
forensic investigation by reducing backlog of DNA analysis.
• Through ensuring ease of use and high quality
data, the automated DNA profiling will speed up case turnaround time as well as
reduce the potential window of activity for criminals.
• The development of a field-deployable, rapid,
fully integrated system for the automated generation of DNA profiling has the
potential to address both increased demand and expanding applications.
Bottlenecks
There are various steps involved in DNA analysis
right from screening of evidence for the presence of body fluids to DNA
extraction and typing.
The major bottlenecks are:
1. Screening of evidence for biological material
is highly variable and time-consuming depending on the crime scene and it
impacts both the quality and quantity of DNA extraction and typing.
2. The present methodology and technology used for
DNA profiling involves various steps right from extraction of DNA to profiling
requiring extensive documentation and quality control measures.
3. Cost and technical expertise needed to exploit
newer DNA technology for forensics suitable for application on much larger
scales.
4. The analysis of complex DNA mixtures,
particularly those containing several DNA profiles (>4) and male-female
mixed DNA samples poses a significant challenge.
5. The need to compare DNA profiles between cases
over time and with variety of DNA databases in many countries around the world
although has led to the establishment of a consensus set of core STR loci for
the generation of DNA profiles, at the same time it stifles the opportunity for
advancement in quality and efficiency due to the pre-requisite for the widespread
availability of these technologies.
Details
Rape is a type of sexual assault that measures up
as an act of criminal violence. According to RAINN (Rape, Abuse and Incest
National Network), every 107 seconds someone in the US is sexually assaulted
and that adds up to 293,000 victims of rape/sexual assault every year. Since
each person carries a unique DNA code, DNA based evidence serves as an
important tool in identifying the perpetrator and achieving justice for the
victim. Although DNA can be extracted from a wide range of crime scene related
items such as blood, semen, hair, saliva or bones, the quality and quantity
vary widely thus restricting the downstream analysis. Purification of DNA from
variety of samples and the sample processing time are the rate limiting steps
in obtaining biological evidence from a crime scene. The time-consuming and
labor-intensive workflow involved in processing samples has resulted in huge
DNA backlog thus enabling victimization.
The workflow involved in processing biological
samples from sexual assault crime scenes typically includes sample collection
from variety of sources, DNA isolation, DNA quantitation using Real-Time PCR,
analysis of short tandem repeat (STR) loci with PCR and analysis of the
amplified STR sizes, analysis of the DNA profile and comparison to known
samples, and/or submission of the profile to database(s) in search of matches.
Extensive documentation and quality control measures are to be performed at
each step of the process thus contributing to DNA backlog and unsolved rape
cases.
Due to the burgeoning demand for DNA analysis in
forensic investigation, there is an unmet need for the development and
application of novel genotyping technologies as an alternative to STR analysis
such as screening for mutations associated with a predisposition to certain
heritable diseases like cancer. Simplified DNA profiling process using a novel
user friendly and possibly through a hand-held device at crime scene might
result in faster turn-around times, enhanced process quality, improved
reproducibility and superior data traceability.
Refer to the following link for additional details:
https://www.thermofisher.com/us/en/home/life-science/dna-rna-purification-analysis/dna-extraction/genomic-dna-extraction/forensic-dna-extraction.html
http://www.patc.com/weeklyarticles/dna-timeline.shtml
http://www.biometricupdate.com/201210/pentagon-to-test-rapid-dna-biometric-technology
http://techbiometric.com/articles/dna-biometrics-issues-concerns-and-latest-developments
http://www.nist.gov/mml/bmd/genetics/upload/nrg2952.pdf
http://www.omicsonline.org/recent-advances-in-forensic-dna-analysis-2157-7145.S12-001.pdf
What has been tried that hasn’t worked
1. Many methods for DNA analysis from trace
samples have become available. Concomitant with the ability to amplify minute
quantities of material is the increased likelihood of contamination being
detected and of artefacts of the amplification process being increased due to
stochastic effects. There is a need for implementation of strict interpretation
guidelines and specialized statistical models and can give the user reliable
and robust results from trace DNA.
2. With the recent introduction of commercial
miniSTR kits, PCR amplicon sizes have been reduced mostly below 200bp, and the
use of miniSTRs is expected to substantially increase the efficiency of
STR-based human identification. However, current miniSTR fragment sizes may
still be too large for the successful analysis of heavily fragmented DNA found
in some forensic cases where very short amplicons of ~50bp are needed. In
general, such short PCR amplicons are not achievable with STRs owing to the
length of the repetitive sequence they include.
3. The use of autosomal SNPs (single-nucleotide
polymorphisms) for human individual identification in forensic investigations
has been tried in place of STR. However, SNPs are less informative in the
analysis of mixtures of DNA from multiple individuals. Multiplex genotyping
technologies are needed to compensate for this effect, which is not
commercially available.
4. A desktop size device for rapid DNA profiling
has been developed but it is priced very high. The ultimate goal is to
eventually drive down the price per DNA analysis to less than US$100 to enable
its widespread application.
5. Commercial instruments capable of producing a
database-compatible DNA profile within 2 hours from buccal swab samples exists,
they are yet to be validated for other sample sources like “touch DNA”, body
fluids and for law enforcement use.
Refer to the following link for additional details:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3012025/
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751157/
http://www.biometricupdate.com/201210/pentagon-to-test-rapid-dna-biometric-technology
http://techbiometric.com/articles/dna-biometrics-issues-concerns-and-latest-developments
http://www.nist.gov/mml/bmd/genetics/upload/nrg2952.pdf
http://www.omicsonline.org/recent-advances-in-forensic-dna-analysis-2157-7145.S12-001.pdf
Verification of why this is an
industry-wide problem
http://www.justice.gov/ag/advancing-justice-through-dna-technology-using-dna-solve-crimes
http://www.futurity.org/dna-profiling-catches-repeat-criminals/
Solution Criteria
The challenge specifically wishes to
create/identify a robust device that:
1. Minimizes the time for DNA detection, profiling
and digitization detection to few hours.
2. Easy to use and cost effective and can be done
without highly specialized training.
3. Must provide quality assurance and validation
guidelines
Criteria that must be met:
1. Level of detail provided for the proposed
protocol such as reagents, consumables, equipment and user expertise and safety
guidelines.
2. Applicability to high throughput, or a high
number of samples
3. Accessibility and cost of the technological
solution, i.e., does not require development of an entirely new technology.
4. Ease of method for use at the point of care.
The proposals can be on any of the following
topics:
1. The use of a rational combination of
microfluidics, nanotechnology and robotics that will aid in the automation of
DNA extraction and purification thereby reducing time, cost and chance of
contamination.
2. Novel methods investigating statistical
analytical approaches to improve selectivity when dealing with DNA samples from
a mixture of sources. There is a growing consensus that better discrimination
can be achieved by adding more standard DNA markers (STR loci) to the existing
DNA databases around the world.
3. Using autosomal SNPs for universal human
identification as well as development of SNP high-resolution micro arrays
containing many markers.
4. The use of next generation DNA sequencing
technologies from single cells, especially those involving flow cytometry/ mass
cytomtery, is expected to bring progress. These technologies also provide
possibilities for analysing small amounts of degraded DNA.
Paths the solution might lie along
Microfluidics, Next generation sequencing and
nanotechnlogy
Areas of knowledge or expertise that would
be helpful in solving this challenge
Microfluidics, Nanotechnology, Molecular biology,
Statistics, Forensic experts, Biomedical engineering, Next generation
sequencing experts, Robotics experts, Bioinformatics.
Thoughts on the cost of providing a
proof-of-concept or prototype
A prototype would cost $25,000-50,000.
kindly register by clicking here
Source:Ideaconnection
