Children's Center for Neurogenomics

Mission Statement:

The UPMC Children’s Center for NeuroGenomics (CCNG) is committed to helping children and families with rare genetic neurodegenerative disorders through evaluation, education and intervention. Our goal is to improve the quality of life for children with these disorders and to help them achieve their full potential.

We do this through our multidisciplinary approach aiming at education, innovative clinical translational research, basic science collaborations and our clinical program that offers interventions including medication management, behavioral and communication support, adaptive equipment and novel clinical research trials.

History of the program:

The clinical translational research program (Program for the study of neurodevelopment in rare disorders (NDRD)) was started in 2000 by Dr Maria Escolar to improve our understanding of these genetic neurodegenerative diseases. Its multidisciplinary approach focuses on the interactions of genes, the brain, and their effects on child development and behavior. Over the years, our team has performed thousands of standardized evaluations on children from throughout the United States and around the world, resulting in unparalleled insights into these rare conditions.

Our clinical experience, combined with our collaborations and commitment to ongoing clinical research, provides the expertise to assess the multisystem needs of our patients and to plan appropriate management, therapies and palliative care when needed. Children seen through our program receive comprehensive evaluations, including physical and neurological examinations, medical imaging, nutrition and feeding assessments, physical and speech therapy evaluations, followed by treatment plans individualized to their unique needs.

Additionally, the team consults with local health care providers and educators to assist them in proving the best case for our patients with these rare diseases. Importantly, the CCNG program is committed to training investigators and clinicians in the diagnosis and comprehensive management of these disorders and building greater awareness throughout the general population and scientific community.

Research and Clinical Trials

As a national recognized research center, the CCNG participates in some of the latest novel clinical trials which involve human volunteers and are intended to add to our medical understanding.

Our basic science and translational research efforts have paved the way to describe the natural history and build the standard of care for many rare diseases to date.