Dr. Elena E. Perez Appointed to Florida Genetics and Newborn Screening Advisory Council

State Surgeon General and Secretary of Health John Armstrong, M.D., has appointed Elena E. Perez, M.D., Ph.D., associate professor of pediatrics, Chief of Pediatric Allergy and Immunology, and Director of the University of Miami Newborn Screening Severe Combined Immunodeficiency Referral Center, to the Florida Genetics and Newborn Screening Advisory Council. Her four-year term on the Advisory Council began July 23.

“I am honored to serve in this role and continue to advocate for the health of children in the State of Florida,” said Perez. “As a clinical immunologist, I have a passion for early detection of all primary immune deficiencies, in particular Severe Combined Immunodeficiency. Early detection and treatment leads to vastly improved outcomes for these patients and families. The disease is fatal without a bone marrow transplant, and in Florida we are finding and treating these patients before they get sick. Children with rare diseases deserve the best chance they can have for successful treatments that significantly change the course of the disease for the better, and this is accomplished through newborn screening.”

Florida screens all newborns for 31 disorders in the U.S. Department of Health and Human Services Uniform Screening Panel, and an additional 22 secondary disorders, unless a parent objects in writing. Before leaving the hospital a few drops of blood are taken from the baby’s heel, and a hearing test is also performed. Blood samples are sent to the Bureau of Public Health Laboratories in Jacksonville. Results are sent back to the hospital, which forwards them to the baby’s physician. If the screening results are abnormal, the Newborn Screening Follow-up Program, which is part of Children’s Medical Services, will contact the physician and/or the parents for further testing. The screening process is an attempt to find and treat conditions before they can cause serious problems such as intellectual disabilities or even death.

“Dr. Perez is a wonderful addition to the Council because she is a pediatric immunologist and an expert in immunodeficiencies,” said Judy Schaechter, M.D., M.B.A., Chair of the Department of Pediatrics. “She is extremely knowledgeable about rare diseases, and she is a vocal advocate for children and families. She has a keen understanding of the cost-benefit of newborn screening, enabling her to help bridge the policy gap between research, health care and government programs. Early genetic detection and personalized treatments are where health care is headed, and the Department of Pediatrics at the Miller School of Medicine intends to be a leader in that effort.”

Perez joins fellow Miller School of Medicine and Mailman Center for Child Development faculty member Robert C. Fifer, Ph.D., on the Advisory Council. Fifer, associate professor of audiology and Director of Audiology and Speech-Language Pathology, is credited with getting mandatory hearing screening made part of hospital discharge screening for newborns.

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