Each quarter, we highlight a council member, an advocate or policy maker, an investigator, or clinical care provider. This quarter we are featuring one of the Utah RDAC members, Dr. Lorenzo Botto.
“My career has taken me across several countries and disciplines, shaped by the mentors, patients, and families I have learned from along the way. I trained first as a pediatrician, then in pediatric cardiology, and later in medical and biochemical genetics. That path helped me keep the whole child and family at the center of care, rather than focusing on a single organ system.
My time training and working as an epidemiologist at the CDC further broadened that perspective, reinforcing the idea that health is both an individual and a community responsibility – a basic human right– and that public health plays a critical role in preventing disease and reducing its impact.
I came to Utah for the opportunity to combine clinical care with public health research. Here, I helped establish and grow the state’s Undiagnosed Disease Program (the Penelope Program), now part of the national Undiagnosed Diseases Network. I also care for patients with inborn errors of metabolism and skeletal dysplasias.
As an epidemiologist, I work with colleagues across the country to better understand the burden of rare conditions, including congenital anomalies such as congenital heart disease and spina bifida. In parallel, our group has helped build the International Centre on Birth Defects, supporting surveillance, training, and capacity-building—particularly in low-resource settings in Africa and Latin America.
All of these experiences inform my commitment to improving care for people living with rare diseases in Utah. We need better data, better coordination, and better policies to support individuals and families. I am grateful for the work of the Rare Disease Advisory Council and for the opportunity to contribute to its efforts on behalf of this community.”