CRISPR: Gene Editing and Movie Madness

There are new developments in genetics coming to light every day, each with the potential to dramatically change life as we know it. The increasingly controversial gene editing system, dubbed CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats), is at the root of it all. Harnessed for use in genome editing in 20131, CRISPR has given hope to researchers looking to solve various biological problems. It’s with this technology that researchers anticipate eventually having the means to genetically modify humans and rid society of genetic disorders, such as hemophilia. While this is not yet possible, the building blocks are steadily being developed. Most recently, two groundbreaking studies concerning CRISPR have been released to the public. Continue reading “CRISPR: Gene Editing and Movie Madness”

STR-Validator: Open Source, Free Software for Evaluating Validation Data in the Forensic Laboratory

Before an established method or procedure can be employed in a forensic laboratory, an internal validation must be completed to show that the method performs as expected. Guidelines for validation are outlined by the Scientific Working Group on DNA Analysis Methods (SWGDAM) and the European Network of Forensic Science Institutes (ENFSI) DNA Working Group. Validation experiments that meet these guidelines will demonstrate the sensitivity and reliability of a short tandem repeat (STR) typing multiplex system. After a lab completes these validation experiments, it will have sufficient data to determine the analytical and stochastic thresholds of the capillary electrophoresis (CE) instrument in combination with the amplification system, the impact of multiple contributors to a DNA sample and the limit of detection and accuracy of the assay.

Such forensic lab validations are time consuming and can be intimidating, and the requirement to validate new technologies and systems is often seen as a deterrent to the adoption of new technologies or improved chemistries in a forensics laboratories. Any tools or tips that can reduce the barrier of validation, may also help the field of DNA forensics implement new technologies more quickly.

On October 1, Oskar Hansson, from the Department of Forensic Medical Services at Oslo University Hospital, will be leading a workshop entitled “Efficient Validation Using STR-Validator” as part of ISHI 28. This workshop introduces the free, open-source STR-Validator software tool that is designed to assist forensic laboratories in the evaluation of validation data. STR-validator is a free and open source R-package developed mainly for internal validation of forensic STR DNA typing kit. However, it is equally suited for validation of other methods and instruments, or for process control. The graphical user interface of the software enables easy analysis of data exported from software programs like GeneMapper® software, without any knowledge about R commands. The software also provides convenient functions to import, view, edit, and export data. After completed analysis, the results, plots, heat-maps, and data can be saved for easy access. Currently, analysis modules for stutter, balance, drop-out, concordance, mixtures, precision, pull-up, result types, and analytical threshold are available. STR-validator can greatly increase the speed of validation by reducing the time and effort needed for analysis of the validation data.

The workshop will include lectures and demonstrations to introduce STR-Validator as an efficient tool for the analysis of validation data in accordance with ENFSI recommendations and SWGDAM guidelines. This workshop is suitable for DNA analysts, technicians and QA/QC managers.

Have you registered for ISHI 28 in Seattle? Check it out. This year’s panel discussion will take up the topic of familial searching. Preregister for workshops. Read speaker bios.

Interested in more tips for smoother validation in your lab? This blog has several suggestions.

Promega Third Party Forensic-Grade Certification

Promega has become the first major forensic manufacturer to achieve third party certification of the published ISO 18385 standard to minimize the risk of human DNA contamination in products used to collect, store and analyze biological material for forensic purposes.

On February 2, 2016, ISO 18385:2016 was published as the first international standard specific to the forensic manufacturing community. Since the standard was published, companies have begun to self-declare that they comply with the ISO standard. Some companies have gone a step further and reached out to Certification Bodies to provide an unbiased and independent assessment their compliance to ISO18385 through a third-party audit.

When consumers see an ‘ISO 18385 Forensic Grade’ labeled product, it should inspire confidence that the product was produced in accordance with a minimum set of criteria common to all manufacturers.

So what are you actually getting in a Forensic Grade labeled product? Continue reading “Promega Third Party Forensic-Grade Certification”

Promega Tech Tours 2017: The Power to Solve for the Forensic Community

Governor John Bel Edwards of Louisiana made an appearance at the Promega Technology Tour in Baton Rouge. Pictures courtesy of Forensic Scientists at the Louisiana State Police.

2017 finds Promega on the road visiting cities all across the United States. This year we are presenting workshops from leaders in the forensics community on topics like maximizing success with challenging samples, improving laboratory efficiency and reducing backlogs, and new tools and technologies for the forensics laboratory. This highly popular workshop series is a great way to learn from your peers about new techniques and workflows and network with other forensics experts in your region.

There are several more tours left between now and the end of 2017. Find out if we are coming to a city near you and register today!

Rapid DNA Act of 2017: What is It?

Copyright: robynmac / 123RF Stock Photo

On May 16, 2017, the U.S House of Representatives and the U.S. Senate passed the Rapid DNA Act of 2017 (H.R.510 and S.139, respectively). The bill was sponsored by Senator Orrin Hatch (R-UT) and Representative James Sensenbrenner (R-Wis) and enjoyed bipartisan support, ending up with seven Republican and five Democratic cosponsors in the Senate, and seventeen Republican and seven Democratic cosponsors in the House. The bill was passed by unanimous consent voice votes in both chambers.

So what is the Rapid DNA Act of 2017 all about?

Simply put, the act will expand the use of rapid DNA technology in law enforcement departments by creating a way for them to use the results they get by connecting them to the FBIs Combined DNA Index System (CODIS). Still curious? Read on and you will learn much more about what the Rapid DNA Act of 2017 does and doesn’t do. Continue reading “Rapid DNA Act of 2017: What is It?”

A Cold Case, A Mystery, and DNA

“How do you like the name Jack?” the woman on the phone asked.

41731849 - soft focus and blurry of baby hands vintage style color effectOn April 26, 1964, a nurse came into the hospital room of Dora Fronczak, who had just given birth to her young son, Paul. She told Mrs. Fronczak that it was time to take the baby to the nursery (at that time newborns did not stay in the room with the moms), took the baby, and left. A few hours later, another nurse came into the room to take young Paul to the nursery. It was then that everyone realized a mother’s worst fear: Her infant had been stolen.

Authorities were able to determine how the woman left the hospital and that she got into a cab, but they were never able to find the woman. However in 1965, a small toddler-aged boy was found, abandoned outside a store in New Jersey. Blood tests were not inconsistent with him being Paul Fronczak (DNA testing was not available), and there were no other missing children cases in the area that were matches. The little boy was sent to Chicago as Paul Fronczak and the case was closed.

However, as an adult Paul Fronczak, began to suspect that the couple who raised him were not his biological parents, and in 2012 Paul underwent DNA analysis to test his suspicions. The results showed that indeed, he was not the biological son of Dora and Chester Fronczak. His next step was to enlist the help of a genetic genealogist to assist him in finding his true biological parents and his identity.

By conducting “familial searches” using commercially available DNA databases like 23andMe and AncestryDNA and many resources, the genealogist’s group found a match to his DNA on the east coast. Further ground work, discovered that this family was indeed Paul’s…now Jack.

The knowledge of Jack’s true identity, didn’t bring with it a joyous union of the adoptive family who had raised and loved Jack (as Paul) with the biological family who had pined for him over the years as many might imagine. Continue reading “A Cold Case, A Mystery, and DNA”

Bones: Improved Technology is Bringing Loved Ones Home

21537407 - archeology, human bonesToday’s Promega Connections blog is written by guest blogger Rachel H. Oefelein, QA Manager/Senior DNA Analyst at DNA Labs International. 

Shakespeare said, “The evil that men do lives after them; the good is oft interred with their bones.”  This is continually true in the case of unidentified remains throughout the United States.  The action of a person going missing or the events leading to an individual’s demise are frequently the memory that haunts a town or the media for years to come. However, for each such case, somewhere lies a set of skeletal remains not yet found, or just as tragic, recovered but still unidentified.  The National Missing and Unidentified Persons System (NamUs) estimates approximately 40,000 sets of unidentified skeletal remains linger in morgues around the country or that have been cremated and buried as Jane and John Does.

Many crime labs do not have protocols in place for the extraction of DNA from skeletal remains or have outdated protocols for bone extraction that are not sensitive enough for poor quality bones. Bones are often recovered from harsh environments and have been exposed to extreme heat, time, acidic soil, swamp, chemicals treatment, etc. These harsh environmental conditions degrade the DNA present in the remains which further complicates the already difficult procedure of releasing the DNA in cells buried deep within the bone matrix. Another challenge is that cases often involve recovery of skeletal remains in areas with animal activity, water recoveries and scenes involving explosions or fires; these case types may require re-association of dozens if not hundreds of bones and bone fragments. Continue reading “Bones: Improved Technology is Bringing Loved Ones Home”

Familial Searching Solves Cold Cases—At What Cost?

A cold case that had stumped investigators for nearly 41 years was solved last month. The 1976 sexual assault and murder of Karen Klass, ex-wife of Righteous Brother’s singer Bill Medley, shocked her Hermosa Beach, CA community and captured the public interest. Failing to make any arrests for decades, detectives were able to use DNA evidence to eliminate suspects in 1999 but were unable to find a database match. In 2011, investigators decided to try a new technique called a familial search and, after a few attempts, successfully identified the perpetrator.

Familial searching (FS) involves taking a DNA profile obtained from a crime scene and comparing it to profiles in CODIS and other databases to identify male relatives. The DNA profile of an immediate family member, such as a sibling, parent or child, can provide a match that generates new leads for law enforcement. Detectives can then collect additional evidence to narrow down that new pool of individuals to a single suspect.DNA-Handcuffs-double-exposure-R2

Last May I wrote a blog featuring a Q & A about FS provided by Mr. Rockne Harmon, a respected member of the forensic community and passionate advocate for FS. Supporters, like Harmon, and opponents agree that this method of obtaining matches to DNA evidence has demonstrated scientific precision and successful outcomes, as in the Klass case. However, it is still considered controversial and most states have not implemented specific policies regarding the application of FS to criminal investigations. So why isn’t the use of FS more widespread?

Continue reading “Familial Searching Solves Cold Cases—At What Cost?”

We Need More Conferences Like ISHI: Memoirs of a First Timer

Keynote speaker David O’Shea kicked off the ISHI 27 conference with his investigation on how DNA profiling is helping to reunite families in Argentina after the military coup in the late 70’s.

We shared in laughter and tears. We tempered our scientific pursuit of the truth with the story of an unimaginably strong survivor of rape. We witnessed the struggles of a man trying to find his identity and the joy of being reunited with real family members after 30 years of lies. I find it hard to succinctly describe to others what my first ISHI conference was like. There is perhaps nothing more personal than our own genetic identities. This conference didn’t shy away from the raw emotions that encompass the human experience. We define ourselves as employees of this company or researchers at that institution, competing for attention and funding, yet this conference reveals how limiting these preconceptions may be.

The desire to make the world a better place unites us. I spoke with analysts for hours about the challenges of overcoming the sexual assault kit backlog, I made a fool of myself dancing to musical bingo with new friends from the Philippines and Brazil, and I was inspired by the casual musings of a video journalist. We are sure to see countless more ethical debates on how we should be using DNA (or proteins!) for human identification. The field of science relies on the open sharing and exploration of new ideas, and as admittedly biased as I am to the conveniences of the digital age, there has never been a better time to come together in person.

Don’t just take my word for it, though.

There were some phenomenal talks each day, and I did my best to capture the essential takeaways from Continue reading “We Need More Conferences Like ISHI: Memoirs of a First Timer”

Of Elephant Research and Wildlife Crime – Molecular Tools that Matter

Here at Promega we receive some interesting requests…

Take the case of Virginia Riddle Pearson, elephant scientist. Three years ago we received an email from Pearson requesting a donation of GoTaq G2 Taq polymerase to take with her to Africa for her field work on elephant herpesvirus. Working out of her portable field lab (a tent) in South Africa and Botswana, she needed a polymerase she could count on to perform reliably after being transported for several days (on her lap) at room temperature. Through the joint effort of her regional sales representative in New Jersey/Pennsylvania (Pearson’s lab was based out of Princeton University at the time) and our Genomics product marketing team, she received the G2 Taq she needed to take to Africa. There she was able to conduct her experiments, leading to productive results and the opportunity to continue pursuing her work. Continue reading “Of Elephant Research and Wildlife Crime – Molecular Tools that Matter”