Date: September 1, 2013
Last spring, when 16-year-old Angela Sanborn began to feel pain shoot through her groin, doctors attributed it to muscle strains from her regular gym workouts. But as the pain intensified and her leg swelled and turned purple, the Florida teenager was sent to All Children’s Hospital in St. Petersburg. Doctors detected and successfully treated a blood clot, aka deep vein thrombosis, which extended from the deep veins of Angela’s calf to the inferior vena cava in her abdomen.
A few weeks later, when she returned to All Children’s for a follow-up visit, she discovered something else: Samples of her blood might unlock mysteries about DVT—not only for herself but for anyone with the crippling condition. Proteins could be teased out from her blood to measure the presence of a disease state. With further study, these biological markers—or biomarkers—should help predict outcomes using certain treatments.
It was the response Angela was hoping for after expressing a desire to somehow help others dealing with her disorder. And Neil Goldenberg, her doctor and director of research at All Children’s, couldn’t have been more pleased by her offer to serve as a donor.
Ushering in a new era of personalized medicine, biomarker research focuses on matching the unique genetic characteristics present in blood, body fluid and tissue with the best available treatments. And Johns Hopkins Medicine is at the forefront of these efforts, accumulating samples from generous patients who want to help further research.
Angela was the first patient to volunteer for one of Goldenberg’s large studies in St. Petersburg and East Baltimore. They include investigations not only on thrombosis, but on a host of other childhood diseases, and her donation is among the first specimens stored in All Children’s new, state-of-the-art biorepository. There, human tissue, blood and other biological samples are preserved and safeguarded until ready for analysis.
A Secured, Invaluable Resource
For the past 25 years, Margaret “Sue” Penno directed The Johns Hopkins Hospital’s Genetic Resources biorepository and is also interim director of All Children’s Hospital’s repository. Across the nation, she says, hospitals are building such storage facilities to corral millions of biosamples, maintain uniform storage standards in cryofreezers, and sustain the samples’ integrity so they will remain viable for decades.
At Johns Hopkins, the quest to collect and store samples in a secured place began in 1989. Now, hundreds of cohort studies made up of groups of people with common characteristics and ranging from sickle cell disease to colon cancer are underway. Penno, a seasoned research scientist inspired by genetics legend Victor McKusick, has spent the past three decades studying how cells move, clump together and divide. She’s tested theories of tumor cell metastasis and other pathologies and weighs each of her words as carefully as she would handle a biosample. In the quarter-century since the biorepository opened on Blalock 10, she’s gained insight into the science of specimen storage, and over the past four years, she and others on the Dean’s Biospecimen Task Force have been calculating how best to safeguard every aspect of biospecimen storage at Johns Hopkins.
What It Takes to Guard a National Treasure
Think of a biorepository as a perpetually secured safe, one that’s stocked with patients’ blood, tissue, DNA and RNA—important genetic information preserved, following strict industry standards. Penno is the bank’s maximum security guard, protecting the precious gifts of generous research subjects.
“The goal,” she says, “is always focused on the patient—to put a sample away securely for a time when we know more, so the patient might benefit from future research.”
Penno says her task is “like running a 24/7 day care center.” And just as each child is individual, various specimens require different temperatures and types of freezers, made safe by elaborate software and alarm systems.
There’s a plan in place to keep samples safe from hurricanes, power outages, fires or floods, such as occurred last fall at the Cancer Research Building in the aftermath of Hurricane Sandy.
This year, the Genetic Resources Core Facility (GRCF) Biorepository in Blalock was among the first to be recognized as a College of American Pathologists-accredited facility, offering superior services in cryopreservation, cryostorage, bioshipping and bioprocessing. Penno and Melissa Olson, the facility’s new director, are working hard to achieve the highest possible standards. “We are proud to join the 20 or so laboratories worldwide that have received this accreditation,” says Olson. “It defines our commitment to offering the highest-quality standards for investigators.”
A Promising Future
Penno is impressed with the progress on All Children’s biorepository—and with its research pipeline: 23 cohort studies are currently underway. Every two weeks, she travels to the Florida hospital to chart the repository’s development. The hospital, she says, is poised to become a premier pediatric academic program as it continues to recruit high-caliber scientists. The new All Children’s biorepository facility uses robots to store samples, providing one more layer of protection against human contamination.
But one of the highlights of these Florida trips, Penno says, is just riding the pediatric elevators. “As someone who never treats patients, I think it’s cool to see all these little kids. You never forget what you’re working toward.”
Gifts like Angela Sanborn’s, she adds, will drive research and help solve mysteries. “I think you can feel confident that there’s hope.” She pauses, then reiterates, “So much hope.”
—Judy F. Minkove
- Started in 1989 as a core resource in a grant called “Mapping the Chromosomes of Man” with principal investigator Victor McKusick.
- Located on the East Baltimore campus, the Genetic Resources Core Facility (GRCF) Biorepository offers on-site storage with rapid retrieval from 12 large-capacity freezers.
- Supports an inventory of hundreds of thousands of samples. Revived cells from consented participants can be expanded for studies and provide a future resource for scientists to understand, diagnose and treat complex diseases.
- The East Baltimore biorepository supports approximately 250 IRB-approved Johns Hopkins investigations and several dozen outside investigators.
- It operates 24/7, 365 days a year, with a monitoring system and database tracking.
- In 2013, the GRCF was among the first to be recognized as a College of American Pathologists-Accredited Biorepository.
Biomarkers are derived not only from blood but also from saliva, urine, cells and tissue. In one study of children with bone cancer, for example, All Children’s Hospital researchers are preserving specimens from tumors to examine the proteins in the DNA or RNA and test drugs that might prove effective.
Conducting such research is nothing new for Johns Hopkins Medicine, but Neil Goldenberg, who directs All Children’s clinical and translational research as well as JHM’s pediatric thrombosis program, calls this a “momentous time.”
Pooling resources, he explains, helps researchers address a number of questions in the most efficient way and find key predictors of outcomes. Goldenberg says large cohort studies are underway in neonatology, oncology, cardiology/cardiovascular surgery and neuroscience.