DNA Sequencing Changes Teens’ Lives
This is an incredible story about the power of a mother as well as the future of personalized medicine.
Alexis and Noah Beery, 14-year-old fraternal twins, today are able to walk, run, and play sports when, only a few years earlier, their parents thought they would be wheelchairbound for life.
The pair was diagnosed at age two with cerebral palsy, yet the twins’ mother was certain there was something in the diagnosis that was not matching up with their symptoms. When Alexis and Noah were 5-years-old, she ultimately discovered the condition they were suffering from.
Called Dopa-responsive dystonia (DRD), the symptoms can mimic those of cerebral palsy. The twins needlessly lived through years of painfully cramped muscles, unable to function like other children their age. A dopamine replacement therapy given three times per day solved the bulk of the problem.
Until late 2010.
That’s when Alexis developed a life-threatening breathing issue that did not respond to treatment. Once again, the twins’ parents went to bat for them, helping the pair become the subjects of a study conducted by the Baylor College of Medicine.
Through this study, the DNA of Noah and Alexis Beery was sequenced, and the information gleaned improved their treatment, including alleviating Alexis’ breathing problem, allowing her to return to sports—and her first track meet—after a year and a half.
Environment and Energy—Genetic Analysis of Food and Biofuel Crops
DNA sequencing is expected to transform not only medicine, but virtually every aspect of our lives. These changes potentially include improvement of key agricultural crops and development of alternative energy sources, thereby contributing to a cleaner, healthier environment.
The foods we consume every day, like wheat, corn, and tomatoes, have benefited from thousands of years of selective breeding, resulting in crops that give higher yields and greater nutritional content than their wild forebears. However, many parts of the world have yet to benefit from this “green revolution.”
In 2011, Life Technologies entered into a partnership with the University of California, Davis, and Mars Food Company to establish a plant-breeding academy in Ghana. There, African scientists will be trained in DNA sequencing techniques that they can use to direct breeding for desired traits and improve traditional food crops in sub-Saharan Africa. Life Technologies scientists are also collaborating with investigators at the United States Department of Agriculture and several research universities to develop better ways to incorporate sequencing information into efforts to breed hardier, fastergrowing, and more pest-resistant food crops.
A number of potential biofuel crops are being investigated throughout the world, too. These include algae, an organism with great promise but one that is difficult for scientists to work with due to a lack of standardized strains and methods. Life Technologies recently launched the first commercial kits for working with algae, including a uniform set of tools for genetic experiments to enhance biofuel production. Life Technologies scientists also collaborated with SG Biofuels, a San Diego company, to sequence the genome of Jatropha curcas, a nonedible shrub that can be grown on lands undesirable for food crops and whose seeds contain high amounts of oil that can be used as jet fuel. Having the Jatropha sequence in hand will accelerate development of elite cultivars with superior yields and profitability, helping to turn the promise of biofuel into a reality.
Genetics of Cancer
For several decades, scientists have been exploring the genetic basis of cancer, and
the results of that work are beginning to see real-world applications in cancer treatment.
Herceptin (effective against some breast cancers) and Gleevec (used in certain
leukemia cases) are examples of successful new therapies made possible by research
into the genetic mutations that occur in tumors. These drugs are called “targeted
therapies,” because they home in on, or target, specific genetic mutations found in
individual patients’ tumors.
Cancers arise when the normal network that regulates cell growth goes awry due to
mutations in key control genes. These mutations cause tumors to behave like runaway
cars in which the brakes have gone out or the accelerators are stuck down. A targeted
therapy reverses the specific defects in a tumor, and slows or even reverses its
uncontrolled growth. For example, Herceptin attaches to and turns down molecules on
breast tumors that recognize the hormone estrogen, which acts like fuel to theses cells.
Herceptin and Gleevec are among the best known of the newer, targeted therapies on
the market, but many more potential drugs are currently in clinical trials and will become
available in the months and years to come. Hundreds of mutations have been identified
by cancer researchers, who continue to investigate new avenues of countering them to
block tumor growth.
In late 2011, Life Technologies introduced its Ion AmpliSeq™ Cancer Panel. This panel
allows scientists to use the latest sequencing technology to rapidly identify more than
700 mutations in genes known to be important in human cancers. More recently, Life
Technologies introduced the Ion AmpliSeq™ Custom Panel, which researchers can use
to look at the genes of most interest to their laboratories. Both of these products are
expected to accelerate cancer studies for scientists such as Dr. Sean Grimmond,
Professor at the Queensland Centre for Medical Genomics. According to Dr. Grimmond,
“[Ion] AmpliSeq™ is an excellent validating tool in cancer genome studies due to its
speed, minimal template requirements, and its overall robustness.”
Food Safety—Sequencing Solves German E. coli Outbreak
When German public health officials were confronted with a new, deadly and highly virulent form of E. coli, research teams in Germany and China simultaneously turned to their new Ion Personal Genome Machine™ (PGM™) Sequencers to rapidly decode and identify the pathogen, marking the first time sequencing had been used in real time to solve a bacterial outbreak.
The first data emerged in just two hours, and within three days the complete genome was published on the Internet. Researchers around the world were able to instantaneously analyze and weigh in on the pathogen, helping German officials pinpoint its origin. Life Technologies was then able to fast-track a test for the new strain and ship it to Europe a few days later. Using conventional technologies, the sequencing step alone would have taken weeks.
Life Technologies has a strong history in crisis situations as a trusted scientific partner for public health agencies around the world. When the US Centers for Disease Control (CDC) saw a crisis brewing in Mexico City in 2009, they turned to Life Technologies and its instruments to identify the deadly flu strain, which would eventually be known throughout the world as Influenza A (H1N1).
The CDC and FDA relied on our technology as the standard technique for identifying this pathogen, which has subsequently been adopted by the World Health Organization. Life Technologies collaborated with hundreds of public health labs around the world to identify the HI1N1 threat, modernizing the WHO’s approach to dealing with global pandemics.
Sequencing Increases Our Understanding of Breast Cancer
Conventional cancer therapies fail in many patients, and for women with triple-negative
breast cancer, the picture is particularly grim. But a new study employing a
personalized, sequencing-based approach is bringing new hope to women who, a short
time ago, had little reason for optimism.
Thirteen women with triple-negative breast cancer who had failed all other treatments
recently had their tumors sequenced on Life Technologies instruments at the
Translational Genomics Research Institute.
Doctors examined the DNA sequence of tumor tissue and placed each woman on
therapies selected taking the sequencing data into consideration. Some women were
enrolled in clinical trials for new drugs not yet on the market.
One patient in particular saw incredible results – in only several weeks on the new
treatment, her tumor shrank from the size of a melon to barely detectible. In her case,
the drug used had only been considered for lung cancer, but the sequencing revealed a
mutant pathway suggesting the drug could also be effective against breast cancer. As a
result, a new clinical trial for breast cancer patients is now underway for this agent.
Life Technologies is collaborating on a global basis with academic and pharmaceutical
partners to show how sequencing will help solve what is one of the largest and most
complex medical problems affecting our world.
Almost all lives are at some point touched by cancer. Fundamentally changing how this
disease is diagnosed and treated will make life better for all.
