Genetic Identity and Forensics

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

Posted on by Kelly Grooms

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

Posted on by Jordan Nutting

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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Unearthing History: How Forensic Analysis of a Racial Massacre is Bringing Closure to a Community 100 Years Later

Posted on by Jordan Nutting

This article was originally published in the May 2022 issue of the ISHI Report.

On October 19, 2020, in a corner of what was once the African American section of the Potter’s Field in Tulsa’s Oaklawn Cemetery, a backhoe begins scraping away layer after layer of red Oklahoma earth. Workers in high-visibility vests and orange hard hats prepare to join the excavation. DeNeen Brown, a reporter with the Washington Post, looks on, bearing witness to a site that could be one of the final, unmarked resting places for victims of a massacre that happened 100 years in the past.

A mural painted on a building's brick wall is a colorful patchwork of portraits and historic Tulsa scenes.
“History in the Making”, a wall painting in the Greenwood District of Tulsa, Oklahoma by artist Skip Hill depicts residents of the district known as the “Black Wall Street”. Photo Credit: Tara Luther.
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Neanderthal DNA and Modern Humans: Svante Pääbo Receives the 2022 Nobel Prize in Physiology or Medicine

Posted on by Ken Doyle

What makes humans “human”?

Neanderthal DNA sequencing from ancient bone samples

On October 3, 2022, the Nobel Assembly at Karolinska Institutet announced the 2022 Nobel Prize in Physiology or Medicine had been awarded to Svante Pääbo, director of the Department of Genetics at the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany. The Assembly cited his “discoveries concerning the genomes of extinct hominins and human evolution”. They mentioned the highlight of his research: the seemingly impossible task, at the time, of sequencing the Neanderthal genome. The discoveries that followed from this sequencing project continue to redefine our understanding of modern human origins.

The award showcases the technological advancements made in the analysis of ancient DNA. However, Pääbo’s research had an inauspicious beginning. In 1985, he published the results of his early work, cloning and sequencing DNA fragments from a 2,400-year-old Egyptian mummy (1). Unfortunately, later analysis revealed that the samples could have been contaminated by the researchers’ own DNA (2).

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The Spectrum CE System: Capillary Electrophoresis for This Generation—and the Next

Posted on by Ken Doyle

Massively parallel sequencing (MPS) has gained popularity for specialized forensic applications. However, the amplification of short tandem repeats (STRs) and analysis by capillary electrophoresis (CE) remains the gold standard for the vast majority of forensic laboratories.

Spectrum CE System in the lab

Recently, Promega announced the launch of the Spectrum CE System, a new capillary electrophoresis instrument that supports future 8-color technology while maintaining compatibility with existing 5- and 6-color kits—even ones that Promega does not sell. In a market with limited instrumentation options for CE analysis, the Spectrum CE system offers features designed to streamline the workflow for analyzing casework and database samples.

Cristopher Cowan, Director of Instrumentation R&D at Promega, discusses the key features of the Spectrum CE System.
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April is Sexual Assault Awareness Month

Posted on by Jordan Nutting

In the United States, April is a time to promote awareness about sexual assault and other forms of sexual violence. Sexual violence is a worldwide, pervasive problem that affects every one of us. By raising awareness, we can learn how to cultivate safe workplaces, homes, online platforms and other spaces, to prevent sexual violence and provide support for survivors.

In honor of Sexual Assault Awareness Month (SAAM), here are some of the key facts and figures about sexual violence gathered from the Rape, Abuse & Incest National Network (RAINN). Take a few minutes to read and learn more about this issue as SAAM draws to a close.

Teal memorial ribbons for sexual assault awareness month
Image Credit: National Sexual Violence Resource Center (NSVRC)
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The Latest Addition to the Lab: A Review of the Spectrum Compact CE System

Posted on by AnnaKay Kruger

When it comes to acquiring new equipment, choosing the right instrument for your lab can be daunting―you want to make a worthwhile investment that will go the distance, both in longevity and overall capacity. In a perfect world, the instruments available to you would have been thoroughly tested and reviewed, especially as they compare to one another, making your job that much easier.

In the case of benchtop capillary electrophoresis (CE) instruments, researchers Nastasja Burgardt and Melanie Weissenberger have done just that. Their article, titled “First experiences with the Spectrum Compact CE System”, appeared in the International Journal of Legal Medicine and offered a comprehensive review of the performance of the recently released Spectrum Compact CE System in a forensic genetics laboratory setting.

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ProDye Brings Sanger Sequencing to Multiple Platforms

Posted on by AnnaKay Kruger

Researchers looking for new chemistry for Sanger sequencing need look no further than the ProDye™ Terminator Sequencing System, developed by Promega for use in capillary electrophoresis instruments. Sanger sequencing, or dye-terminator sequencing, has been the gold standard of DNA analysis for over 40 years and is a method commonly used in labs around the world. Even as new technologies emerge, Sanger sequencing remains the most cost-effective method for sequencing shorter pieces of DNA.

Sanger sequencing depicted as results on a musical cleft
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The 32nd International Symposium on Human Identification: Remembering Past Challenges and Developing a Path Forward

Posted on by Ken Doyle

The global COVID-19 pandemic has changed the entire conference and tradeshow industry. Although plans for many in-person conferences were paused, this month the 32nd International Symposium on Human Identification offered the best of both worlds: an in-person symposium in Orlando, Florida (September 12–16), and a virtual conference where registrants could view the session recordings online. At the symposium, exhibits and poster presentations offered attendees the opportunity to reconnect in person after long absences, while various networking events gave attendees a chance to catch up and socialize.

Promega booth at ISHI 32
The Promega booth at ISHI 32 offered a welcoming environment for attendees to reconnect, with a backyard pool party theme.

As usual, workshops were held before and after the main symposium. In a sign of the changing times, Rachel Oefelein and Tarah Nieroda (DNA Labs International) presented a talk on the unique challenges and opportunities associated with virtual courtroom testimony.

The weekend before the symposium was marked by an event of great significance across the world: the 20th anniversary of the September 11, 2001, terrorist attacks on the World Trade Center, the Pentagon, and the attempt on the U.S. Capitol that was thwarted by the brave sacrifice of the passengers and crew on board United Airlines Flight 93. In particular, the DNA forensics community was reminded of how much technology has evolved over the years, in the efforts—still ongoing—to identify the victims of the attacks.

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Automating Forensic DNA Purification to Meet Urgent Needs: Reflections on September 11, 2001

Posted on by Jordan Villanueva
Allan Tereba (center, blue polo) works with technicians at the New York City Office of the Chief Medical Examiner (OCME) in September 2001 to discuss automating forensic DNA purificaiton.
Allan Tereba (center, blue polo) works with technicians at the New York City Office of Chief Medical Examiner (OCME) in September 2001.

In the summer of 2000, Promega research scientist Allan Tereba was asked to develop an automated protocol for purifying DNA for forensics. His team had recently launched DNA IQ, the first Promega kit for purifying forensic DNA using magnetic beads. This was before the Maxwell® instruments, and before Promega purification chemistries were widely adaptable to high-throughput automation.

“I had my doubts about being able to do that,” Allan says. “When you’re working with STRs, small amounts of contaminant DNA are going to mess up your results. But I went ahead and tried it, and it was a challenge.”

A little over a year later, Allan was in his office when he heard on the radio that a plane had struck the North tower of the World Trade Center in New York City. Shortly after, he heard the announcement that a second plane had hit the South tower.

By that point, Allan and his colleagues had successfully adapted DNA IQ to be used on the deck of a robot. Within days of the attacks, Promega scientists were supporting the New York City Office of Chief Medical Examiner (OCME) and New York State Police in their work to identify human remains that were recovered from Ground Zero.

Thanks to the work of Allan and many other Promega scientists, Promega was prepared to offer unique solutions to urgent needs. In their own words, here are some of those scientists’ reflections.

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