Bones and Blood: Uncovering History Through DNA

Halloween invites us to look beneath the surface—to find the stories hidden in bones, blood, and the echoes of the past. Science, too, has its own way of conjuring the long dead, not through spells but through DNA analysis. The three Promega Connections blogs highlighted below revisit centuries-old mysteries, using modern genetics to reveal the truths hidden where legend once ruled.

The Bones of a King: Richard III

Under a modern car park in Leicester, England, archaeologists uncovered bones twisted by scoliosis and scarred by battle. Could these truly belong to the infamous Richard III? DNA evidence answered with haunting precision in “King Richard III Identified.”

Mitochondrial DNA matched that of a living descendant of Richard’s sister, confirming the king’s identity more than 500 years after his death. Beyond solving a royal mystery, genetic analysis gave historians a clearer picture of the much-maligned monarch—his appearance, stature, and final violent moments. The same technology that identified Richard III may one day reveal the fate of his murdered nephews, the “Princes in the Tower.” Even as bones turn to dust, DNA keeps their stories alive.

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Beyond April: Sustaining Momentum in Sexual Assault Awareness and Action  

This guest blog post is written by Tara Luther, Sr. Marketing Specialist, Genetic Identity at Promega.

April 2024 marked the 23rd anniversary of Sexual Assault Awareness Month (SAAM) in the United States. While we have crossed into May, the importance of what SAAM stands for does not diminish with the changing of the calendar. The National Sexual Violence Resource Center (NSVRC) emphasizes that SAAM is a time to not only draw attention to the prevalence of sexual assault, but to also educate individuals and communities about how to prevent sexual violence. 

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Transforming Forensic Science with DNA from Dust

A ray of sun coming through the wooden shutters, illuminates dust on the inside of a dark room. Close up, selective focus. Vintage background. This image is licensed from Adobe Stock.

In the evolving field of forensic science, a study by Fantinato et al. has opened new avenues in using DNA extraction and analysis to recover important information from crime scenes. Their work, “The Invisible Witness: Air and Dust as DNA Evidence of Human Occupancy in Indoor Premises,” focuses on extracting DNA from air and dust. This novel approach could revolutionize how crime scenes are investigated, especially in scenarios where traditional evidence—like fingerprints or bodily fluids—is scarce, degraded or has been removed from surfaces.

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Elevate Your Research: Exploring the Power of 8-Dye STR Chemistry with the Spectrum Compact CE System

In genetic research, staying at the forefront of technology is crucial. The latest breakthrough in human identification comes in the form of 8-dye Short Tandem Repeat (STR) chemistry. This innovation promises unprecedented precision and accuracy in DNA analysis, revolutionizing the way we approach genetic studies. In this blog post, we’ll delve into the world of 8-color chemistry and explore how it seamlessly integrates with the game-changing Spectrum Compact CE System.

Understanding 8-Dye STR Chemistry

The introduction of 8-dye chemistry expands the capability of STR analysis, enabling researchers to analyze more DNA markers with smaller amplicons, providing more robust data from degraded or inhibited DNA samples.  The performance of the 8-color dye chemistries from Promega on the Spectrum Compact CE System is sensitive, with both chemsitries (PowerPlex® 35 GY System and the upcoming PowerPlex® 18 E System) producing 100% profiles from their suggested inputs down to as little as 62.5 pg of DNA. The 18E system produced 100% profiles down to 31.25 pg of input DNA with minimal signal bleed through and low system noise.

Table showing percent STR profiles generated with decreasing input DNA using the PowerPlex 35GY or PowerPlex 18 E chemistry on the Spectrum Compact CE System
Table showing percent profiles generated with decreasing input DNA using the PowerPlex® 35GY or PowerPlex® 18E chemistry on the Spectrum Compact CE System.
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How an Innovative Mobile DNA Analysis Lab Helped Identify War Victims in Ukraine

Each year, the International Symposium for Human Identification (ISHI) covers a variety of the latest topics in DNA forensics through sessions, workshops and poster presentations. While last year’s meeting largely focused on using investigative genetic genealogy (IGG) and developments in DNA databases, another topic that garnered widespread interest was current efforts being taken to mobilize DNA analysis labs.

One of the speakers, Sylvain Hubac, PhD, Head of the DNA Division of the Forensic Science Laboratory of the French Gendarmerie, helped create a mobile DNA lab solution back in 2015. This innovative mobile lab, designed and patented by the French Armed Forces for the French Gendarmerie (IRCGN), has been used to facilitate DNA identification in a number of emergency settings since it’s inception. From identifying the remains of the Germanwings Flight 9525 plane crash victims in 2015 and the victims of the 2016 Bastille Day terrorist attack in Nice, to adapting the lab to aid in sample processing during the COVID-19 pandemic, the mobile lab has played an especially instrumental role in Disaster Victim Identification (DVI) scenarios.

However, the mobile lab was more recently employed in a new DVI context: identifying victims of the conflict in Ukraine. On the last day of ISHI 33, Dr. Hubac presented on the unique challenges posed when identifying victims of war, and the tools, protocols and system that made the mobile lab uniquely suited for this purpose.

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Pursuing Justice For Victims: DNA Forensics

Last year’s International Symposium of Human Identification (ISHI) covered a span of topics during various workshops, sessions, and poster presentations. Topics ranged from investigative genetic genealogy (IGG) to customary updates about CODIS and DNA testing standards to mobilizing DNA analysis labs. However, one topic particularly stood out to attendees—Ashley Spence’s powerful testimony on pursuing justice for victims.  

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Supporting CAR-T Cell Therapy with STR Analysis

Engineered T-cell therapies, specifically CAR-T cell therapies, have emerged as a breakthrough treatment for several blood cancers including diffuse large B-cell lymphoma (DLBCL), B-cell acute lymphoblastic leukemia (B-ALL), mantle cell lymphoma, follicular lymphoma, chronic lymphocytic leukemia and multiple myeloma (1). CAR (chimeric antigen receptor) T-cell therapy involves collecting T cells from a patient and re-engineering them to detect and destroy cancer cells.

While these therapies have improved progression-free and overall survival in many cases, their complex manufacturing workflows and rapid expansion into new cancer types have introduced a demand for quality control, identity testing and process traceability (1).

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DNA from a ~20,000-Year-Old Pendant Offers Genetic Picture of Its Owner

The elk tooth is small and ancient, with a crude hole bored through the top. It was likely worn as a pendant, but worn by whom? Was the owner male or female? Where did they come from? Did the pendant indicate their social status, mark a significant accomplishment, was it a gift, or was it worn as an expression of individuality?

Artifacts such as personal ornaments and tools play a pivotal role in helping us understand the migration, behavior and cultures of ancient peoples. To date, this information has stopped short of providing insight into things like the biological sex or genetic ancestry of the individuals who may have worn or used these items, and thus limited our ability to accurately characterize societal roles and behaviors. Recent advances in DNA techniques and technologies, and one little pendant, might be changing that.

gloved hands hold an artifact pendant
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Exploring Investigative Genetic Genealogy 

In the past few years, and as seen as a popular topic at ISHI 33, investigative genetic genealogy (IGG) has rapidly grown and emerged as a new field of science to identify human remains or cold case crime scene samples. The technique traces potential genetic familial relationships through DNA databases. Although genetic genealogy and public DNA databases have been around for quite some time, what’s new is their use by law enforcement.

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The 33rd International Symposium on Human Identification: The Past, Present and Future of Investigative Genetic Genealogy

It’s hard to imagine a better way to celebrate the 33rd International Symposium of Human Identification than a night spent wandering through the Hall of Human Evolution at the Smithsonian Museum of Natural History. The meeting, which took place in Washington D.C. from October 31–November 4, focused largely on using investigative genetic genealogy (IGG). When used to identify human remains or solve cold cases, IGG (a.k.a. forensic genetic genealogy or forensic investigative genetic genealogy, take your pick) relies heavily on techniques developed to sequence DNA from ancient human remains.

A crowd dances in a stone courtyard with a taxidermy elephant on display.
Credit: ISHI

New to ISHI this year were live-streamed presentations, building off the success of last year’s session recordings for online streaming. Another first was attendees dressing up in costume for the welcome reception, which happened to coincide with Halloween. From a nucleic acid-themed group costume to Sims characters to a bunch of grapes, ISHI 33 attendees had a chance to show off their fun side while reconnecting with colleagues.

While a range of topics were covered during the workshops, sessions and poster presentations, three themes stood out to this first-time ISHI attendee. In addition to IGG, there was widespread interest in developments in DNA databases as well as efforts to mobilize DNA analysis labs.

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