Child neurology is at the forefront of the genetics revolution in medicine, says Kevin J. Staley, MD, chief of Pediatric Neurology at Mass General. Genetics play an outsize role in neurological disease in children, Staley says, because many disorders that affect the way the brain develops and functions have genetic roots.
Making sure the revolution delivers maximum benefits to patients in the timeliest way is the mission of Kathryn J. Swoboda, MD, the new director of Neurogenetics at Mass General. A national and international leader in the diagnosis and treatment of rare genetic diseases, Swoboda is one of just a handful of US physicians trained and board certified in both neurology and clinical and molecular genetics. With a foot firmly planted in each world, Swoboda will spearhead MGH’s efforts to integrate new genetic approaches and technologies into the practice of neurology.
With recent advances in DNA analysis, sequencing a child’s exome today costs the same as an MRI scan. The technology for detecting potential mutations is now well-established, but using that information to make specific genetic diagnoses is the current challenge, says Staley. “We are very excited to have Dr. Swoboda here, to help Mass General develop the best strategies to exploit the incredible resources available to us, and provide leadership for medicine as we enter this era of easy genetic diagnosis.”
Swoboda specializes in inherited neuromuscular diseases and movement disorders, and is widely known for her work on spinal muscular atrophy (SMA), a rare but devastating neurodegenerative condition that manifests in infancy or childhood. SMA is caused by mutation in the SMN gene, which is required for the survival of motor neurons. SMA is the leading genetic cause of death in newborns, but Swoboda would like to change that with her work on early diagnosis and treatment of the disease.
For infants with the most severe form of SMA, time is of the essence. The babies appear normal at birth, but quickly grow weaker as motor neurons die off. Swoboda’s foundational work on the natural history of SMA has led to the realization that early diagnosis and immediate treatment will be the only way to spare children from the irreversible loss of neurons that leads to severe disability or death. To do that, Swoboda leads an active pilot program of newborn screening in several states looking at the feasibility of universal genetic testing for SMA at birth. She is a leader in collaborative clinical research in SMA and has been involved in several trials of new treatments. At Mass General, Swoboda will lead the first-ever clinical trial of an investigational gene therapy for SMA in newborns. The treatment has shown promising signs of activity in symptomatic adults, and Swoboda will be testing whether giving the treatment as early as possible, and before symptoms appear, can stop the disease before it gets started.
Swoboda, who was previously at the University of Utah, says she was drawn to Mass General by the richness of the genetics community and an ongoing institutional commitment to world-class research in human genetics. “It’s very unusual for a hospital to be so invested in research –Mass General and Partners Healthcare have made a huge investment in genome sequencing and research to figure out how to relate disease to novel genetic variants, and how that fits into a future personalized approach to our neurology patients, and patients in general,” she said.
Together with Partners’ Personalized Medicine Initiative and the Laboratory for Molecular Medicine, she cites ties to top genetics researchers and computing resources at the nearby Broad Institute and MIT. On top of that, the MGH Neurological Clinical Research Institute offers a robust infrastructure for translating new research into clinical trials, and collaborating with the Boston-area biotech community. Then there is the sheer size of the neurology community at MGH and nearby, and the chance to train and mentor the next generation of neurology leaders.
“All of these resources make this a unique environment for a geneticist and a neurologist who wants to focus on are we going to use genetics to transform medicine. That’s what exciting for me,” Swoboda says.
Swoboda’s return to Mass General is a homecoming of sorts—after graduating from Northwestern University Medical School in 1990, she trained in neurology and pediatric genetics in Harvard Medical School and Boston Children’s Hospital before taking a research and clinical position in Utah. At Mass General, Swoboda will occupy the newly created Katherine B. Sims Chair in Neurogenetics at Massachusetts General Hospital. The chair was established to honor Sims, a pediatric neurologist and a pioneer in neurogenetics who founded one of the first DNA diagnostic labs focused on rare diseases. Today, Mass General is one of only a few hospitals that maintain an in-house diagnostic lab, and offers some tests that are not available anywhere else. Swoboda’s appointment ensures that the lab and it services will endure and adapt to the new, and rapidly changing, genetics landscape.
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