The NBIA Center of Excellence initiative, which began in August 2022, aims to recognize and guide NBIA families to high-quality clinical care provided by physicians and research institutions with specialized knowledge of these ultra-rare disorders.
Current NBIA Centers of Excellence
NBIAcure at Oregon Health & Science University
Awarded: May 2023
Under the leadership of Dr. Susan Hayflick and Dr. Penny Hogarth, NBIAcure at Oregon Health and Science University (OHSU) has been at the forefront of helping the NBIA community for over 30 years, delivering exceptional care and advancing research in NBIA disorders. Their designation as the first NBIA Center of Excellence is well-deserved, as they have served this critical role for many years, initially being our sole source of expertise and guidance.
The NBIAcure team at OHSU is renowned for providing comprehensive care to families affected by NBIA disorders. Their services include thorough clinical evaluations, personalized care plans, and global access to expert advice through in-person and virtual physician consultations, ensuring that patients receive top-tier care regardless of their location. The team collaborates closely with specialists in additional disciplines to offer a multidisciplinary approach to care and support.
In addition to clinical care, the NBIAcure team has made groundbreaking contributions to NBIA research. They have helped discover many NBIA-related genes and have advanced our understanding of the genetic and molecular mechanisms underlying these disorders. Their research efforts include leading several natural history studies to better understand disease progression and developing novel therapies, including small molecule treatments and gene therapy initiatives.
Families and physicians seeking more information or consultations can contact the center by following the links below.
Physicians: Case Consultation
Families: Clinical Visits in Portland, OR
Children’s Hospital of Philadelphia
Awarded: April 2024
At the Children’s Hospital of Philadelphia (CHOP), the Clinic for BPAN and WDR-45 Related Disorders, exemplifies excellence in clinical care. Under the leadership of Dr. Laura Adang and Dr. Joseph Vithayathil, CHOP provides an exceptional environment where families benefit from coordinated, multidisciplinary care. Patients have access to a team of specialists, including neurologists, genetic counselors, physical and occupational therapists, and research coordinators, all with extensive expertise in BPAN. This integrated approach ensures streamlined and comprehensive care for families.
The skilled providers at CHOP, many of whom have experience with many NBIA disorders, offer consultations to families and physicians globally. They assist with diagnosis, education, and treatment recommendations, contributing to better patient care worldwide.
CHOP’s research initiatives, particularly their BPAN natural history study, are important in enhancing our understanding of the disease and improving patient outcomes. The insights gained from these studies, including data and publications on patient and caregiver quality of life, will help inform future treatments and interventions.
Penn Medicine and Children's Hospital of Philadelphia are also recognized as a NORD Rare Disease Center of Excellence.
The BPAN Clinic is funded through the NIH & Don’t Forget Morgan Foundation.
To schedule an appointment, request a consultation, or learn more, please visit:
BPAN Families: CHOP's Clinic for BPAN and WDR-45 Related Disorders
NBIA Families: CHOP's Neurology Department - Dr. Vithayathil
Texas Children’s Hospital Blue Bird Circle Clinic of Pediatric Neurology
Awarded: April 2025
Texas Children’s Hospital is home to a growing NBIA Multidisciplinary Clinic within its Blue Bird Circle Clinic of Pediatric Neurology. The clinic is led by Dr. Mariam Hull, a pediatric movement disorders specialist trained at Texas Children’s and Baylor College of Medicine. She is joined by Dr. Lisa Emrick, a neurogeneticist and neurodevelopmental disabilities specialist trained at Johns Hopkins/Kennedy Krieger and Baylor.
Both physicians have devoted their careers to treating children with rare neurological conditions and currently provide care for numerous individuals with NBIA disorders. Hull is actively involved in clinical projects, including the development of guidelines for managing pediatric status dystonicus, a severe movement disorder that affects many with NBIA. She also serves as co-principal investigator on multiple industry-sponsored clinical trials involving gene therapy and natural history studies.
Emrick co-leads the Undiagnosed Diseases Network at Baylor College of Medicine and has spearheaded numerous research efforts involving gene therapies, antisense oligonucleotides, and targeted treatments for rare pediatric diseases. She also served as a contributing author for The Consensus Clinical Management Guidelines for BPAN.
Texas Children’s Hospital is recognized nationally for its strength in pediatric neurology and commitment to rare disease research. The collaboration between Hull and Emrick enhances the center’s ability to provide expert care, advance research and welcome new NBIA families into its supportive environment.
Contact: Mariam.Hull@bcm.edu
UC Davis Health MIND Institute
Awarded: May 2025
The UC Davis Health MIND Institute joins the NBIA Centers of Excellence network as a nationally recognized research, clinical and educational center with a focus on neurodevelopmental and genetic conditions. Leading the NBIA efforts is Dr. Suma Shankar, head of the Division of Genomic Medicine. She is a physician-scientist trained in medical genetics and pediatric ophthalmology with a career-long focus on advancing precision medicine for rare neurological disorders.
Shankar has led numerous clinical trials involving rare genetic conditions and works at the intersection of genomic research and clinical application. Her team’s research includes genetic testing, ocular genomics and therapeutics such as enzyme replacement and substrate reduction therapies.
Emrick co-leads the Undiagnosed Diseases Network at Baylor College of Medicine and has spearheaded numerous research efforts involving gene therapies, antisense oligonucleotides, and targeted treatments for rare pediatric diseases. She also served as a contributing author for The Consensus Clinical Management Guidelines for BPAN.
The MIND Institute offers interdisciplinary developmental-behavioral care and is already supporting several NBIA families, particularly from California’s Central Valley, where access to specialized care has historically been limited. With its new designation as a Center of Excellence, UC Davis Health is establishing a dedicated NBIA clinic to better serve families in the region and expand awareness among local providers.
Contact: spshankar@ucdavis.edu
| Want to join our COE network? |
| Contact Dr. James Bourgeois at jbourgeois@ucdavis.edu |
