Lurie Children’s Hospital has become the first and only hospital in Illinois to receive accreditation as a Primary Ciliary Dyskinesia (PCD) Center of Excellence from the PCD Foundation. The center, led by Dr. Maria Dowell, Interim Division Head of Pulmonary and Sleep Medicine, provides specialized diagnosis and treatment for children with PCD throughout the region.
The multidisciplinary team at the center includes pediatric pulmonologist Dr. Marco Almeda, advanced practice nurse Mary Kate McIntyre, and genetic counselor Alexander Ing. They offer access to diagnostic tools such as a nasal nitric oxide (nNO) machine and conduct all genetic testing for PCD on-site using next-generation sequencing methods.
A recent endowment from Don and Anne Edwards enabled the purchase of a Long Read Sequencing (LRS) machine for the Division of Genetics—now named The Edwards Family Division of Genetics and Rare Diseases. This technology is available at only a few PCD centers nationwide. It allows clinicians to analyze genes that are difficult to sequence, like HYDIN, and can help determine parental inheritance patterns without needing parental samples.
The combination of LRS technology with in-house nNO testing strengthens the resources available to patients at Lurie Children’s PCD Center.
“Having access to this cutting-edge LRS technology is monumental given the critical role of genetic testing in the diagnostic workup of PCD,” says Ing.
“When clinical suspicion is high, even if other tests are negative, you might still want to conduct some of the other types of testing,” says Dr. Almeda. “Having access to all these combined forms of testing will certainly help in the reduction of missed diagnoses.”
