The conference was hosted by Krzysztof Szczałuba, MD, PhD, Director of the Center of Excellence for Rare and Undiagnosed Diseases MUW. The rectoral authorities were represented by Prof. Piotr Pruszczyk, Vice Rector for Science and Technology Transfer MUW. The meeting was attended by 120-150 people.
How the MUW Center for Rare Diseases works
Prof. Piotr Pruszczyk, opening the conference, stressed that the activities of the Center of Excellence for Rare and Undiagnosed Diseases at our university are unique on a national scale.
- There are a wide variety of centers at MUW and the teaching hospitals that deal with patients with rare diseases. We have units that perform advanced genetic diagnostics and describe new genetic diseases. We have centers for perinatal care, maternity units caring for patients with rare diseases. We have neonatologists and pediatricians who specialize in rare diseases and, finally, specialists who care for adult patients with these conditions. This multidisciplinarity and the ability to provide continuous care to patients at all stages of life is extremely important - the Vice Rector said.
The Role of the Early Diagnostic Center
Krzysztof Szczałuba, MD, PhD, its Director, also spoke about the goals and activities of the Center of Excellence for Rare and Undiagnosed Diseases MUW. In the context of the conference theme, he particularly emphasized the role of the Center for Early Diagnosis of Rare Diseases.
- The center is co-developed with other specialists in various fields. We have clinical units in it: The Department of Neonatology and Rare Diseases, that means neonatologists, we have a subdepartment for children up to the end of the age of 2, and also the Department of Child Neurology. There are also geneticists in the laboratory and outpatient clinics. Laboratory facilities are also very important. This means including diagnosticians, metabolic physicians and geneticists, as well as radiologists in the activities of the center - said Krzysztof Szczałuba, MD, PhD.
Experience of clinicians and diagnosticians
The conference was divided into two thematic parts: clinical and diagnostic. In the first, experienced clinicians talked about the cases of rare diseases they encountered and the path that led them to the correct diagnosis. They focused primarily on symptoms and their interpretation. The topic of laboratory diagnosis was also covered in this section. There was also a roundtable discussion. The topic of the roundtable was seizures occurring in the neonatal and early infant period.
The second part of the conference focused on highly specialized diagnosis of rare diseases. Experts spoke about when to reach for the next-generation sequencing method, exome sequencing and the challenges and difficulties involved. It was also possible to listen to a lecture on modern possibilities for evaluating the fetal brain and on the possibilities and clinical application of MRI in the algorithm for early neurogenetic diagnosis.
The conference was held on May 19 this year. Speakers at the event included: Prof. Piotr Pruszczyk, Vice Rector for Science and Technology Transfer MUW; Krzysztof Szczałuba, MD, PhD, UCDChRzN WUM, Center for Early Diagnosis of Rare Diseases within the University Center of Excellence for Rare and Undiagnosed Diseases MUW; Krystyna Szymańska, MD, PhD, Department of Child Neurology and Pediatrics UCC MUW; Dr. Ewa Głuszczak-Idziakowska, Department of Neonatology and Rare Diseases UCC MUW; Dr. Sławomir Barszcz Department of Pediatric Neurosurgery and Traumatology UCC MUW; Prof. Urszula Demkow, Department of Laboratory Diagnostics and Immunology UCC MUW; Dr. Katarzyna Kuśmierska, Department of Laboratory Diagnostics and Immunology UCC MUW; Dr. Anetta Jeziorek, Center for Early Diagnosis of Rare Diseases and Laboratory of Neurodiagnostics UCC MUW; Prof. Bożena Kociszewska-Najman, Department of Neonatology and Rare Diseases UCC MUW; Dr. Barbara Oleksy, Department of Neonatology and Rare Diseases UCC MUW; Dr. Sebastian Wardak, CM Medgen; Dr. Renata Jaczyńska, Department of Obstetrics, Perinatology and Gynecology UCC MUW, Department of Obstetrics and Gynecology IMiD; Dr. Mariusz Furmanek, Department of Pediatric Radiology UCC MUW; Prof. Rafał Płoski, Department of Medical Genetics MUW.
