Emory’s Department of Human Genetics and Division of Medical Genetics are celebrating Rare Disease Day, together with the rare disease community.
While Feb. 28 is Rare Disease Day, Emory's observance will be March 1.
Led by section chief Michael J. Gambello, MD, PhD, Emory’s medical genetics clinic has a long history of commitment to rare diseases. The clinic provides more than 5,000 patients with high quality care including diagnosis and management of complex rare diseases. The team was recently named by the National Organization of Rare Diseases as part of the NORD Rare Disease Center of Excellence program.
Emory currently manages Georgia’s newborn screening follow-up program, ensuring early diagnosis and potentially life-saving treatment for about 500 infants per year with rare diseases affecting the metabolism, lungs, blood and nervous system.
Through a partnership with the Georgia Department of Public Health (GA DPH), Emory-conducted newborn screening studies led to the incorporation of four new conditions to the state panel in 2019: mucopolysaccharidosis type 1, Pompe disease, X-linked adrenoleukodystrophy, and spinal muscular atrophy. In 2021, GA DPH also began screening for Krabbe disease as part of a three-year pilot program, and is partnering with Emory to provide follow-up care.
The Department of Human Genetics has established a Genetic Clinical Trial Center, coordinated by William Wilcox, MD, PhD, and certified genetic counselor Dawn Laney, MS. The Center currently coordinates participation in more than 20 clinical trials for rare diseases, including both enzyme replacement therapies and gene therapy clinical trials.
Recent trials have helped lead to FDA approval for several drugs designed for people with rare diseases, including Lumizyme for Pompe disease, Palynziq for phenylketonuria and vosoritide for achondroplasia, the most common form of human dwarfism. Wilcox, a professor in the Department of Human Genetics, was instrumental in the development and testing of vosoritide.
Another example of a rare disease studied intensively at Emory is Fabry disease, which results from an inherited deficiency in a lysosomal enzyme called alpha-galactosidase A. This leads to a build-up of complex sugar-lipid molecules (glycolipids) in the body’s tissues and symptoms of skin problems, pain, impairments in digestion and sweating, and eventually heart and kidney disease. The classic form of Fabry disease affects about 1 in 60,000 males and almost twice as many females. New forms of treatment and gene therapy are being tested in clinical trials at Emory.
Together with colleagues across the country, Laney has been conducting the observational MOPPet study. The longitudinal, prospective five-year study examined 15 infants and young children diagnosed with Fabry disease to determine when symptoms and abnormal urinary biomarkers begin to appear. Laney presented her findings at the February 2022 World Symposium on Lysosomal Disease.
“Most of the data we have in children with Fabry disease is people trying to remember back a long time ago, and what symptoms they had and when they started,” Laney says. “We find that children that are pre-verbal are starting to show signs of gastrointestinal issues and they follow a really specific pattern each time.”
The MOPPet study was supported by Sanofi Genzyme, which produces an enzyme replacement therapy for Fabry disease.