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
