Erin Kelly Bean
Erin Kelly Bean is the oldest daughter of Jim and Jill Kelly. She has always had a passion for writing, journaling and sharing her faith. A sought-after speaker to young women, Erin has co-authored five books with her sister, Camryn. She graduated from Liberty University in Lynchburg, Virginia. Erin lives with her husband, Parker.
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Catie Becker, NP | Pediatric Nurse Practitioner
Catherine (Catie) Becker is a Pediatric Nurse Practitioner at Massachusetts General Hospital (MGH). Catie received her master’s degree in Pediatric Acute/Chronic Advanced Practice Nursing from the University of Pennsylvania. She has spent the last 15 years working in pediatric neurology at MGH as. Catie joined the MGH Leukodystrophy clinic in 2011. Since 2011 she has been fortunate to work with a multidisciplinary team of care providers treating both children and adults with leukodystrophy, while participating in multiple ongoing clinical trials. Catie looks forward to the Hunter’s Hope meeting every year where she leaves feeling even more inspired and determined to push care forward for every individual living with a leukodystrophy.
Kelly Bossola PT, MSPT | Physical Therapist
Kelly Bossola PT, MSPT, Board Certified Pediatric Clinical Specialist had been working with Dr. Maria Escolar in the UPMC Children’s Neurodegenerative Rare Disease Clinic for over 10 years. In NDRD she had participated in evaluations and clinical research studies. Kelly is a leading expert for assessments in rare diseases, orthotic management, serial casting and mentoring professionals. In 2023, she joined Forge Biologics, a member of Ajinomoto Bio-Pharma Services and leading manufacturer of genetic medicines. Kelly is the Behavioral Outcomes Specialist for the clinical programs and most recently began her role as Patient Advocate in the company. Combining her love for working with patients and families and supporting the Rare Disease Community makes this an exciting new adventure a perfect pairing. Kelly is looking forward to hearing from you and your family during this symposium.
Beth Brooks
Beth Brooks is an instructional designer specializing in the development of eLearning courses for medical professionals. With over 20 years of experience in education and advanced degrees in education and instructional technology, Beth brings a strong foundation in adult learning and development. Her expertise lies in creating accessible, innovative learning experiences for diverse audiences. Beth’s work has expanded knowledge of HIV prevention, treatment, and linkage to care among medical professionals across the country.
Barbara K. Burton. MD | Clinical Geneticist, Professor of Pediatrics
Dr. Barbara K. Burton is a Professor of Pediatrics at the Northwestern University Feinberg School of Medicine and an Attending Physician in the Division of Genetics, Birth Defects and Metabolism at the Ann & Robert H. Lurie Children’s Hospital of Chicago. She is Board certified in Pediatrics, Clinical Genetics and Clinical Biochemical Genetics. Her clinical and research interests are focused on inborn errors of metabolism and newborn screening. Dr. Burton is an investigator in numerous natural history studies and clinical trials of new therapies for various metabolic disorders. She has published over 250 peer-reviewed articles, 50 chapters in books and is an editor of two textbooks.
Dr. Burton is active in professional organizations and is a Past-President of the Society for Inherited Metabolic Disorders and the Chicago Pediatric Society. She served for four years as a member of the Secretary’s Advisory Committee on Heritable Disorders in Infants and Children, the federal advisory committee that makes recommendations regarding newborn screening in the US and served for many years as Chairman of the Newborn Screening Advisory Committee of the Illinois Department of Public Health. She is an Emeritus Member of the Board of Directors of the Greater Chicago Area March of Dimes and received a Lifetime Achievement Award from the March of Dimes in 2017. She received the PKU Hero Award from the National PKU Alliance in 2018. She is a member of the Scientific Advisory Board of the National MPS Society and serves on the medical advisory board of a number of other patient advocacy organizations.
Annamarie Dillon, MsC
Executive Director, Global Patient Advocacy, Orchard Therapeutics
Annamarie is passionate about partnering and learning from rare disease patient communities. Working in rare disease patient advocacy roles within industry for more than 15 years, she recognizes the importance of integrating patient perspectives along the drug development pathway. She embraces opportunities to foster mutually beneficial partnerships with patient groups on areas of common interest, including research and clinical trial design, disease awareness, newborn screening, capacity building, patient access and supporting networking opportunities. Annamarie believes in the promise of innovative therapies and has worked to support advocacy efforts across rare diseases employing various therapeutic approaches including enzyme replacement, RNA technology and ex-vivo hematopoietic stem cell gene therapy at various stages of drug development. Prior to joining Orchard Therapeutics in 2019 where she now leads global patient advocacy efforts, Annamarie worked at ProQR Therapeutics and at Genzyme (Sanofi Genzyme).
S. Ali Fatemi, MD | Pediatric Neurologist
Dr. Ali Fatemi, is the Chief Medical Officer at Kennedy Krieger Institute, a pediatric neurologist and the director of the Moser Center for Leukodystrophies at Kennedy Krieger Institute and holds the Blum-Moser Chair for Pediatric Neurology. Dr. Fatemi is also professor of neurology and pediatrics at Johns Hopkins University. His research focuses on gene targeted therapies for the leukodystrophies.
Jennifer Yacavone Fitzgerald, MOT, LMT
Melissa Jablonski
Melissa Jablonski joined the Hunter’s Hope team in 2015. Melissa has had the unique opportunity of being involved in several Hunter’s Hope programs over the past 6 years including Development, Marketing, the LCN, Newborn Screening, and Family Programs. Melissa has a great passion for the mission and values of Hunter’s Hope and a love for the families we serve. She is honored to be a part of this foundation and help provide Leukodystrophy families with love, hope, and support through our programs.
Jill Kelly
In September 1997, three months after their infant son, Hunter was diagnosed with a fatal, genetic disease called Krabbe Leukodystrophy, Jim and Jill Kelly established the Hunter’s Hope Foundation. As Chairman of the Board of Hunter’s Hope, Jill helps children with leukodystrophy and their families by extending them hope and comfort she has received through her relationship with Christ. Jill has written several books and is a NY Times Best Selling Author.
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Joanne Kurtzberg, MD | Jerome Harris Distinguished Professor of Pediatrics
Dr. Joanne Kurtzberg is an internationally renowned expert in pediatric hematology/oncology, pediatric blood and marrow transplantation, umbilical cord blood banking and transplantation, and novel applications of cord blood and birthing tissues in the emerging fields of cellular therapies and regenerative medicine. Dr. Kurtzberg serves as the Director of the Marcus Center for Cellular Cures (MC3), Director of the Pediatric Transplant and Cellular Therapy Program, Director of the Carolinas Cord Blood Bank, and Co-Director of the Stem Cell Transplant Laboratory at Duke University.
The Carolinas Cord Blood Bank is an FDA licensed public cord blood bank distributing unrelated cord blood units for donors for hematopoietic stem cell transplantation (HSCT) through the CW Bill Young Cell Transplantation Program. The Robertson GMP Cell Manufacturing Laboratory supports manufacturing of RETHYMIC (BLA, Enzyvant, 2021), allogeneic cord tissue derived and bone marrow derived mesenchymal stromal cells (MSCs), and DUOC, a microglial/macrophage cell derived from cord blood.
Dr. Kurtzberg’s research in MC3 focuses on translational studies from bench to bedside, seeking to develop transformative clinical therapies using cells, tissues, molecules, genes, and biomaterials to treat diseases and injuries that currently lack effective treatments. Recent areas of investigation in MC3 include clinical trials investigating the safety and efficacy of autologous and allogeneic cord blood in children with neonatal brain injury – hypoxic ischemic encephalopathy (HIE), cerebral palsy (CP), and autism. Clinical trials testing allogeneic cord blood are also being conducted in adults with acute ischemic stroke. Clinical trials optimizing manufacturing and testing the safety and efficacy of cord tissue MSCs in children with autism, CP and HIE and adults with COVID-lung disease are underway. DUOC, given intrathecally, is under study in children with leukodystrophies and adults with primary progressive multiple sclerosis.
In the past, Dr. Kurtzberg has developed novel chemotherapeutic drugs for acute leukemias, assays enumerating ALDH bright cells to predict cord blood unit potency, methods of cord blood expansion, potency assays for targeted cell and tissue based therapies. Dr. Kurtzberg currently holds several INDs for investigational clinical trials from the FDA. She has also trained numerous medical students, residents, clinical and post-doctoral fellows over the course of her career.
Kristen Malfara
Kristen Malfara is the proud mother of Morgan, who in 1997 was born with a rare neuromuscular disorder classified as a Leukodystrophy. She is also the Founder of The M.O.R.G.A.N. Project which was established in 2001. Morgan is the inspiration and namesake of this organization. In 2023, Kristen made the bittersweet decision to dissolve the organization. The M.O.R.G.A.N. Project established an endowment with Hunter’s Hope so that Morgan’s legacy can live on and continue to provide hope and support to the rare disease and disabled community nationwide. Morgan is now 26 years old. In addition to Morgan, Kristen is the proud parent of two other sons, Jordan and B.J.
While she still refers to herself as a “stay at home mom,” Kristen remains a leader in the local disabilities community and beyond. The M.O.R.G.A.N. Project was a labor of love for over two decades. The organization helped many families of children living with diagnoses of so-called orphan diseases who need help adapting to life in a world not designed for them. Kristen believes “that our choices, more than our abilities, show who we really are”, and that every family she helped is just one more way that she gets to honor Morgan. Kristen and The M.O.R.G.A.N. Project have been recognized and featured in local and national media outlets, and have been awarded numerous honors over the years.
One of Kristen’s proudest accomplishments has been joining the Hunter’s Hope Leukodystrophy Care Network Steering Committee. She believes that this is her opportunity to come full circle and give back to those that were there for her when her own son was diagnosed many years ago.
Deitrich Matern, MD, PhD | Director, Biochemical Genetics Laboratory at Mayo Clinic
Dr. Dietrich Matern is a Professor of Laboratory Medicine, Medical Genetics and Pediatrics, and co-director of the Biochemical Genetics Laboratory at the Mayo Clinic in Rochester, Minnesota. He has a primary interest in the biochemical diagnosis of inborn errors of metabolism, particularly lysosomal disorders, mitochondrial fatty acid beta-oxidation disorders, organic acidemias, and amino acidopathies.
Dr. Matern’s research activities involve the development and improvement of laboratory assays for the effective and efficient screening, diagnosis and follow-up of patients with inborn errors of metabolism. He has also participated in the laboratory evaluation of animal models and clinical trials as a collaborator with colleagues at Mayo Clinic and other academic institutions. He authored or co-authored more than 170 peer-reviewed publications and 20 textbook chapters. Since 2005, Dr. Matern has been a member and chair (2020-present) of the American College of Medical Genetics and Genomics’ (ACMG) ACTsheet and Confirmatory Algorithms Workgroup. Since 2001 he has been an active member of the Minnesota State Advisory Committee on Heritable and Congenital Disorders, and from 2011 to 2018 was a voting member on the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) to the U.S. Secretary of Health and Human Services. He was a board member of the Society for Inherited Metabolic Disorders (SIMD) from 2008 to 2015, and faculty of SIMD’s North American Metabolic Academy (NAMA) from 2007 to 2011. Dr. Matern currently serves on ACMG’s Board of Directors, is a member of the CAP/ACMG Biochemical & Molecular Genetics Resource Committee, and serves on working groups of patient advocacy organizations, the Association of Public Health Laboratories (APHL), and the Clinical Laboratory Standards Institute (CLSI).
Joe Orsini, PhD | New York Newborn Screening Program
Dr. Joseph Orsini is the Deputy Director for the New York Newborn Screening Program. Dr. Orsini’s laboratory was the first to implement newborn screening for Krabbe disease (KD), applying the research method of Gelb and coworkers to high throughput screening. Dr. Orsini worked with Genzyme (Currently Sanofi) in developing a test that could screen for psychosine, this is a substrate of galactocerebrosidase, the enzyme that is deficient in Krabbe disease patients.
This and three additional studies showed that psychosine is very elevated in newborns that will be affected by the infantile form of KD. Additionally, the testing shows that second tier testing for psychosine can significantly reduce the number of false positive KD. Dr. Orsini is working with Gelb, Matern, the New York State Krabbe Consortium, and the Krabbe Disease Task Force to redefine who is at risk for late onset KD; the new definition of which patients are truly at risk should reduce the number of infants with possible late onset KD by at least a factor of three. This work will provide the foundation for a successful nomination of Krabbe disease to the RUSP. To learn more about Joseph Orsini, visit his laboratory (linked below) or feel free to reach out to him by email at joseph.orsini@health.ny.gov.