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Miami or Bust


The story of the John P. Hussman Institute for Human Genomics at the University of Miami Miller School of Medicine actually began at Duke University, where the institute's director, Margaret Pericak-Vance, was formerly the director of Duke's Center for Human Genetics. But the crack in the dam that led to Pericak-Vance and a slew of other genomics researchers making the move to Florida began when cardiovascular genomicist Pascal Goldschmidt left his position as chair of Duke's medical school to head up the med school at the University of Miami.

"We had the center of human genetics, which was highly successful and well funded at Duke, and we were there for 30 years, but then Dr. Goldschmidt said, 'Let's take a nucleus of what's going on and move it UM,'" says Pericak-Vance. "We did that about two and a half years ago and with about 60 people originally, both faculty and staff. … We're a very integrated group: we have molecular biologists, clinicians, statisticians, bioinformaticians, epidemiologists, and we're all housed in one area now." In addition to directing the Miami institute, Pericak-Vance also serves as a professor of human genomics at the university.

And when Pericak-Vance decided to make that move, she of course went along with her husband, Jeffery Vance, who is now director of the Center for Genomic Medicine at the new Hussman Institute. Vance says that they made the move to Miami not only because of their faith in Goldschmidt's vision, but because they saw their research efforts as needing room to grow. "We saw the opportunity to continue building something and get involved at all levels of ... what we do as well as the research," says Vance. "And I think that from the Duke side, we had sort of grown to where we [could] grow in the Duke system and we really didn't see opportunity there for some of the younger faculty."
The institute, originally named the Miami Institute for Human Genomics, has already enjoyed some major refurbishing by way of a new name and a sizeable chunk of change. The facility assumed its new moniker after a $20 million donation courtesy of John P. Hussman, an institute supporter and investment fund manager.

Vance says that first and foremost, the institute has been able to obtain resources for building up a technology center. "We have a lot more resources here available to use from both the University of Miami and the state of Florida, and we have an opportunity to become involved in helping the university itself grow and for moving ahead with personalized medicine, which is really the outcome of what we do, so those opportunities were not there at Duke," he says. "And Miami's an interesting place. It's a much more vibrant and exciting area, and there's a lot more diversity here, which is also of interest to us in terms of genetics."

Common and complex

While work at the Hussman Institute does cover some rare disorders, the overall vision is on common complex disorders, the kind that touch almost everyone in some way. "If I walk into a fourth-grade classroom [and ask] does somebody in your family have cancer, heart disease, Alzheimer disease — by the time I list all of these diseases that we work on here, every hand is up because it affects everybody," says Pericak-Vance. "It's the idea that genomic medicine, personalized medicine, the things we do here, will be translated in the future into prevention and care." Other diseases or disorders include age-related macular degeneration, amyotrophic lateral sclerosis, Asperger syndrome, Charcot-Marie-Tooth Disease, multiple sclerosis, neural tube defects, Parkinson's disease, and tuberculosis, among many others.

The institute currently has several collaborations with various departments and institutes at the University of Miami hospital system, the university's department of neurology, as well as the Bascom Palmer Eye Institute, where researchers have many ongoing projects including primary open-angle glaucoma and age-related macular degeneration. Hussman scientists are also working with an autism research group at the University of Miami's Coral Gables campus, have recently started some collaborations with the Sylvester Comprehensive Cancer Center, and are working with University of Miami cardiologists who made the move with Goldschmidt from Duke.

And while Pericak-Vance says that she cannot complain when it comes to funding, if she could snap her fingers, the dream would be to have enough money to fully exploit all available technologies to get discovery to the bedside in a way that will make a real difference. Instead, she says, the biggest hurdle is something that no amount of money can solve right away. "When people come talk to me and I talk to families and they say how can you move faster, there's so much technology out there but it's really expensive, if you had all the money in the world there would be countless approaches you would do and we would move a lot faster," she says. "So yes, funding is an obstacle, but it's an obstacle for everybody. We really wish we had more funding to exploit the technology that's available."

So far, the Hussman institute has three next-generation sequencing machines, but for its data analysis needs researchers are collaborating with a nearby bioinformatics group at the university. "The technology keeps flipping over," Vance says. "It's been changing so quickly, so I think in terms of our own technology we're pretty well set other than the daunting task of taking care of all this data, because we have the statistical and the molecular and a pretty good set of epigenetic faculty now."

With all the pieces in place, it is the goal of translating advances to reach the bedside that is first and foremost in the minds of institute researchers. Pericak-Vance hopes that all the data her scientists are generating will soon mean something to patients. "I would like to see some of our discoveries translated in the clinics and into primary care in terms of prevention. … We're actually sort of moving into that slowly, as far as discovery goes," she says. "The worst thing is to have all these discoveries come out and not know what to do with them."

The John P. Hussman Institute for Human Genomics

Miami, Fla.
Director: Margaret Pericak-Vance
Established: 2007
Size: 30 faculty; roughly 160 to 180 individuals in total
Funding: In addition to Hussman's $20 million gift, the majority of the funding is derived from NIH grants.
Focus: The researchers at the Hussman Institute proclaim as their main focus the delivery of real-world treatments from all this genetic data. The primary disease research areas read like a laundry list of common disorders, including: age-related macular degeneration; Alzheimer's disease; amyotrophic lateral sclerosis; Asperger syndrome; autism; multiple sclerosis; Parkinson's disease; and tuberculosis, among others.
Core facilities: Hussman has a sequencing core consisting of two ABI capillary genetic analyzers, two ABI SOLiD 3 systems, and an Illumina Genome Analyzer. Institute researchers also have access to genotyping, gene expression and profiling services, as well as a 4,000-square-foot bio-repository housed at the university's Biomedical Research Building.

The Scan

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.

TB Resistance Insights Gleaned From Genome Sequence, Antimicrobial Response Assays

Researchers in PLOS Biology explore M. tuberculosis resistance with a combination of sequencing and assays looking at the minimum inhibitory concentrations of 13 drugs.

Mendelian Disease Genes Prioritized Using Tissue-Specific Expression Clues

Mendelian gene candidates could be flagged for further functional analyses based on tissue-specific transcriptome and proteome profiles, a new Journal of Human Genetics paper says.

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.