Once a neurologist suspects or confirms a diagnosis of Krabbe disease, it is critical to connect with experienced specialists as quickly as possible. Due to the rarity and complexity of this disease, many medical providers may never encounter another patient with Krabbe disease during their careers. Families deserve access to experts who understand the disease in depth and are familiar with the latest approaches to treatment, transplantation, supportive care, and long-term management.
The individuals listed below have been nationally and internationally recognized as leaders in the Krabbe disease community. KrabbeConnect is deeply grateful for their commitment to patients and families, and for the expertise they bring to this ultra-rare disease community.
Dr. Deep Rajan
Director, UPMC Children’s Center for NeuroGenomics, Children’s Hospital of Pittsburgh of UPMC, Associate Professor of Pediatrics, University of Pittsburgh School of Medicine
Email: CCNG@chp.edu
Phone: 412-692-6350
Dr. Deepa Rajan received her medical education from Bangalore Medical College and Research Institute, India and completed training in Pediatrics at Children’s Hospital of Michigan. She then completed training in Child Neurology at Children’s Hospital of Pittsburgh and stayed on as faculty within the Division of Child Neurology in 2013. Dr. Rajan is certified through the ABP in Pediatrics, through the ABPN in Neurology with Special Qualifications in Child Neurology and Epilepsy.
Dr. Rajan established and directs The Neurogenetics Program at the Children’s Hospital of Pittsburgh which aimed to harness novel genetic technology for the diagnosis and care of patients with undiagnosed neurological diseases. She took over the Program for Neurodevelopment in rare disease as clinical director in 2022. In 2023, the programs were merged under the larger umbrella of the UPMC Children’s Center for NeuroGenomics (CCNG), which she now directs. The CCNG includes a clinical diagnostic program, a center of excellence in leukodystrophies and neurodegenerative diseases -establishing natural history and identifying novel therapeutic strategies for children with rare neurological disorders, a translational research program in rare neurodegenerative diseases and a training program for multidisciplinary learners. Dr. Rajan has particular expertise in neurodegenerative diseases, including Krabbe disease, Metachromatic leukodystrophyThe leukodystrophies comprise a group of progressive, genetic disorders mainly affecting the central nervous system (CNS). Most leukodystophies result from a disruption of the growth of the myelin sh, Adrenoleukodystrophy etc and neurodegenerative mucopolysaccharidoses. She is currently principal Investigator in a number of clinical trials including gene therapyA type of therapy that offers hope and promise for a cure for many genetic disorders. A working copy of the gene replaces the non-working copy of the gene. Gene therapy is at the forefront of many trials for neurodegenerative rare diseases.
Dr. Rajan has an active role in medical student and neurology resident teaching in the Department of Pediatrics. She is currently funded through foundation grants for projects in new gene discovery in GEMIN5 gene and Localized Scleroderma. She completed her term as the Chair of the Neurogenetics Section of the American Academy of Neurology and continues to be actively involved in multiple national organizations. Dr. Rajan is certified through the ABP in Pediatrics, through the ABPN in Neurology with Special Qualifications in Child Neurology and Epilepsy. Her recognitions include the Shelden Brenner Research Award in 2010, Sanford N. Cohen Award for Outstanding Graduating Resident (2010) and the Bonita F. Stanton Professionalism in Pediatrics Award (2010).
Dr. Joanne Kurtzberg
Jerome S. Harris Professor of Pediatrics, Director, The Marcus Center for Cellular Cures at Duke University Medical Center
Email: kurtz001@mc.duke.edu
Phone: 919-668-1119
Dr. Joanne Kurtzberg is an internationally renowned expert in pediatric hematologyoncology, pediatric blood and marrow transplantation, umbilical cord blood banking and transplantation, and novel applications of cord blood in the emerging fields of cellular therapies and regenerative medicine. Since 1990 she has served as the director of the Pediatric Blood and Marrow Transplant (PBMT) Program at Duke University Medical Center. The PBMT program has transplanted over 60 patients affected by Krabbe Disease. Dr. Kurtzberg current research is focused on finding ways to use cord blood cells to help children with Krabbe disease and other leukodystrophies. To learn more about Dr. Joanne Kurtzberg please visit Duke University Medical Center.
Dr. Paul Orchard
University of Minnesota – InheritedThe way genes are passed down from one generation to the next. There are many different types of inheritance patterns. Krabbe disease is inherited in an autosomal recessive pattern of inheritance. Metabolic and Storage Disease Bone Marrow Transplantation Program
Email: orcha001@umn.edu
Phone: 612-626-2961
Dr. Paul Orchard is the Medical Director of the Inherited Metabolic & Storage Disease Program and a Professor in the Department of Pediatrics, Division of Blood and Marrow Transplantation at the University of Minnesota. The program, based at the Pediatric Specialty Care Journey Clinic, is routinely recognized as one of the most experienced for treating severe rare genetic diseases. He is interested in the use of hematopoietic stem cell transplantation (HSCTHematopoietic stem cell transplantation (HSCT), a type of transplantation using multipotent hematopoietic stem cells typically derived from bone marrow, peripheral blood, or that from umbilical cord b) and other cell therapies for inherited metabolic diseases, as well as combination therapy to improve outcomes. He also has been exploring methods to modify the transplant process to decrease the toxicity associated with transplant, as well as the use of gene therapy approaches. More information about Dr. Orchard, his education and research can be found by visiting the Pediatric Blood and Marrow Transplant Center at the U of MN.
Dr. Paul Szabolcs
Chief, Division of Blood and Marrow Transplantation and Cellular Therapies Professor, Pediatrics, University of Pittsburgh School of Medicine
Email: paul.szabolcs@chp.edu
Phone: 412-692-6225
Dr. Paul Szabolcs is the Chief of Pediatric Transplantation and Cellular Therapies division at the Children’s Hospital of the University of Pittsburgh Medical Center (UPMC). Dr. Szabolcs has completed many cord blood transplants on patients with Krabbe disease at UPMC, the youngest being just a few weeks old. He is currently designing and testing reduced-toxicity transplantation regimens for patients with life-threatening inherited conditions that lead to bone marrow failure in neurodegenerative conditions like Krabbe disease. To learn more about Dr. Szabolcs training and research at UPMC, please visit The Center for Rare Disease Therapy.