2024 Medical Symposium Speaker Directory

Beth Bair, MS | Chemistry Division Director, South Carolina Department of Health

Beth Bair, MS currently works for the South Carolina Department of Health and Environmental Control (SC DHEC)
Public Health Laboratory (PHL) in Columbia, South Carolina, as the Chemistry Division Director. She manages the operations and strategic planning for two public health programs within the PHL: Newborn Screening and Analytical Chemistry. Ms. Bair began her career in 2004 as a chemist and supervisor of the analytical chemistry section at the SC PHL but later went to the University of South Carolina (USC) where she managed a mass spectrometry lab for 10 years. Ms. Bair earned a M.S. degree in geochemistry from Georgia Tech in 2003 and B.S. degrees in chemistry and geology from New Mexico Tech in 2001. She is currently working on a Ph.D. in environmental health sciences (public health) at USC.  She lives in Blythewood, South Carolina, with her husband of 16 years, Ben, and their 3 children, Winona, Sam, and Gus.

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.

Joshua L. Bonkowsky, MD, PhD | Chief of the Division of Pediatric Neurology

Dr. Josh Bonkowsky is a professor of Pediatrics at the University of Utah School of Medicine and Primary Children’s Hospital, Chief of the Division of Pediatric Neurology, and Director of the Center for Personalized Medicine.  After graduating from Harvard College, he spent one year on a Fulbright Fellowship in Vienna, Austria, followed by MD and PhD training at U.C.S.D.  Dr. Bonkowsky is a physician-scientist with interests in clinical and bench research, including the pathophysiology, outcomes, and treatments for leukodystrophies. Since 2006, Dr. Bonkowsky has personally mentored more than 70 trainees; more than half of whom are women or under-represented minority trainees.  Together with his wife, a pediatric infectious disease physician, he juggles his personal and professional responsibilities.  In his “spare” time he enjoys camping with his daughter, building a quasi-functional radio telescope with his sons, and trail running.

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.

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.

Camillie Corre, MD | Child Neurology Resident

Dr. Camille Corre is a child neurology resident at the University of Rochester. She spent two years working as a clinical research coordinator in the Center for Rare Neurological Diseases at Mass General Hospital, where she worked with Dr. Florian Eichler and Catie Becker and was first introduced to Hunter’s Hope. In 2019, she moved from Boston to western NY. She completed medical school at the University of Rochester and then decided to stay for her residency in child neurology. She has been working on several leukodystrophy projects with Dr. Rob Stone and Nikki Walsh. She is thrilled to be back at this year’s Hunter’s Hope Symposium.

Andrea E. DeBarber, PhD | Research Associate Professor at Oregon Health & Science University (OHSU)

Dr. Andrea DeBarber is a Research Associate Professor at Oregon Health & Science University (OHSU) where she oversees the OHSU Sterol Analysis Laboratory that performs biochemical diagnostic testing for CTX. Dr DeBarber’s research focuses on developing improved biochemical testing for rare genetic disorders of sterol and bile acid synthesis. Over the last decade Dr DeBarber has identified multiple blood and urine CTX biomarkers useful for diagnosis and to monitor the efficacy of therapy.  In addition, Dr DeBarber serves as Chair of the Medical and Scientific Advisory Board for the CTX Alliance patient advocacy group and is leading a task force to nominate CTX for consideration for addition to the US recommended uniform panel of disorders screened for in newborns (RUSP).

Taraka Donti, PhD | CLIA Laboratory Director

Dr. Taraka Donti is the CLIA Laboratory Director and Director of Laboratory Services at Revvity Omics Laboratory in Pittsburgh, PA. Dr. Donti is involved in several aspects of laboratory operations and in charge of the R&D group at Pittsburgh. He received a Ph.D. from Texas A&M University in Biochemistry. He completed post-doctoral studies at Baylor College of Medicine and is ABMGG board certified in Clinical Biochemical Genetics. Metabolomics, mitochondrial biology and translational research are his areas of interest.

Rana Dutta, PhD | Sr. Director of Scientific Affairs at Mirum Pharmaceuticals

Dr. Rana Dutta, Sr. Director of Scientific Affairs at Mirum Pharmaceuticals, leads the Bile Acid Synthesis Disorder program focusing on rare diseases like CTX, SLOS, PBD-ZSD, and other BASDs. With a Ph.D. in Genetics from West Virginia University School of Medicine and a Postdoctoral Fellowship from Johns Hopkins School of Medicine in Genetics, Oncology, Virology, and Immunology, Dr. Dutta completed preceptorships at Mt. Sinai School of Medicine, Oxford University, and Birmingham Children’s Hospital in the United Kingdom. Dr. Dutta’s expertise lies in disorders of lipid metabolism, including rare and ultrarare genetic and metabolic conditions. His 15+ years of experience in rare and ultra-rare diseases has led to numerous publications, solidifying his impact in the field.

Maria Escolar, MD, MS | Chief Medical Officer at Forge Biologics

Dr. Maria Escolar is Chief Medical Officer at Forge Biologics, a Professor of Pediatrics at the University of Pittsburgh, and Founder of the Program for the Study of Neurodevelopment in Rare Disorders (NDRD) at UPMC Children’s Hospital of Pittsburgh. She has more than 25 years of experience as a practicing clinician and researcher and is internationally known for her work in neurodevelopment of children with leukodystrophies, mucopolysaccharidosis and other genetic neurodegenerative conditions.

Dr. Escolar has authored more than 80 manuscripts, including two original research articles in the New England Journal of Medicine. Her research focuses on behavioral and neuroimaging outcomes of lysosomal storage disorders and prospective natural history studies of other rare neurological diseases. She is also recognized for the development of a novel automated neuroimaging tool to quantitate white matter changes in children affected by these disorders. Dr. Escolar is a graduate of the Escuela Colombiana de Medicina, in Bogota, Colombia. She has a Master of Science in Human Nutrition from Columbia University, and completed a residency in Pediatrics and a Fellowship in Developmental and Behavioral Pediatrics at Cornell University Medical Center. She is a leader in clinical trials design for rare diseases and has extensive experience as PI in seven gene therapy trials with different types of administration and multiple small molecule and enzyme replacement clinical trial approaches. Most recently, she has led the development of a novel therapy for Krabbe disease, a combination treatment of umbilical cord blood transplantation and adeno-associated virus gene therapy. Forge Biologics Inc. has licensed the therapy from the University of Pittsburgh and advanced it to a Phase I/II clinical trial.

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. 

Michael Gelb, PhD | Professor of Chemistry

Dr. Michael H. Gelb is Professor of Chemistry and Barbara L. Weinstein Endowed Chair in Chemistry, Adjunct Professor of Biochemistry at the University of Washington.

Steven J. Gray, Ph.D. | Associate Professor

Dr. Steven Gray received a B.S. degree with honors from Auburn University followed by a Ph.D. in molecular biology from Vanderbilt University and postdoctoral training at the UNC Chapel Hill Gene Therapy Center.  He is currently an Associate Professor in the Department of Pediatrics at the University of Texas Southwestern Medical Center.  Dr. Gray is the director of the UTSW Viral Vector Facility and maintains affiliations with the Department of Molecular Biology, the Department of Neurology and Neurotherapeutics, the Eugene McDermott Center for Human Growth and Development, and the Hamon Center for Regenerative Science and Medicine at UT Southwestern.  Dr. Gray’s core expertise is in AAV gene therapy vector engineering, followed by optimizing approaches to deliver a gene to the nervous system.  His research focus has also been heavily focused in developing AAV-based treatments for neurological diseases, some of which have translated into clinical trials. He is inventor on over 20 awarded or pending patents and author on over 90 publications related to gene therapy.

Petra Kaufmann, MD | Chief Medical Officer, Vigil Neuro

Dr. Petra Kaufmann brings over 25 years of clinical and translational experience as well as a proven expertise in both domestic and global drug development. Dr. Kaufmann joined Vigil from Affinia Therapeutics, where she served as Chief Medical Officer leading medical, clinical, patient advocacy and regulatory strategy. Prior to Affinia Therapeutics, Dr. Kaufmann held the position of Senior Vice President, Clinical Development, Translational Medicine & Analytics at Novartis Gene Therapies where she led the company’s global clinical development strategy including global approvals of Zolgensma®. She has also served as Vice President, Translational Medicine at AveXis (acquired by Novartis), and Head, Office of Rare Diseases Research at the National Institutes of Health. Dr. Kaufmann holds an M.S. in biostatistics from Columbia University and an M.D. from the University of Bonn.

Tracy Klug | Manager, NBS Unit, Missouri State Public Health Laboratory

Tracy Klug is the manager of the Newborn Screening Unit within the Missouri State Public Health Laboratory.  She has worked in newborn screening for 20 years and has taken a lead role in implementing new disorders in the laboratory throughout her tenure.  She is currently a member of the Association of Public Health Laboratories’ Newborn Screening Quality Assurance / Quality Control Subcommittee.

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. 

Barb Lesko | Lab Manager, Indiana Newborn Screening Laboratory

Barb Lesko currently serves as the lab manager for the Indiana Newborn Screening Laboratory. After graduating from Indiana University with a BS in Medical Technology, she worked in the Newborn Screening laboratory during the pilot year of the program. After that year, she spent the next few years in school and working with the department’s marketing team trying to expand their outreach program.

She eventually made her way back to Newborn Screening, where she has spent the last 30+ years in her current role as the Laboratory Manager. She feels honored to have been a part of a program that has seen so much expansion and has been integral in helping save and improve the lives of so many Indiana babies.

Sharon Linard, MS, MEd, CGC | Supervisor, NBS Clinical Follow-up, Ohio Dept. of Health

Sharon Linard, MS, MEd, CGC supervises the Newborn Screening Clinical Follow-up section for the Ohio Department of Health.  She has been working in this position since 2004. Prior to this position she has over 10 years’ experience as a pediatric genetic counselor at Nationwide Children’s Hospital and four years’ experience working as an epidemiologist for the State of Ohio. Sharon became interested in clinical genetics in 7^th grade science class and knew that was what she wanted to do as a career. Sharon attended Purdue University where she earned a BS in Genetics and Developmental Biology and a MEd in Secondary Science Education.  After one year of teaching in public schools, she returned to school and received her MS in Human Genetics and Counseling at Sarah Lawrence University.

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.

Gwendolyn McKee, MBA/HCM, BS, MT | NBS Lab Manager

Gwendolyn McKee is the Newborn Screening MSMS/2 nd Tier/ Data Entry Lab Manager for the Tennessee Dept. of Health. She has over 30 years of lab experience. She has been with Tennessee Dept. of Health Laboratory for 12 years. She manages the section that screens for Amino Acid, Acylcarnitine’s, Lysosomal Storage disorders, 2 nd Tier testing (X-ALD, HCY/MMA/MCA) and Accessioning /Data Entry. In 2015 she became the MSMS Supervisor and 2 years later the Manager over MSMS. She received a bachelor’s degree in Chemistry and Medical Technology from Tennessee State University and an MBA/HCM from the University of Phoenix.

Paul Orchard, MD | Director, Inherited Metabolic and Storage Disease Program

Dr. Paul Orchard is the Medical Director of the Inherited Metabolic and Storage Disease Program, and a Professor in the Department of Pediatrics in the Division of Blood and Marrow Transplant & Cellular Therapy (BMT & CT) at the University of Minnesota. He is interested in the use of hematopoietic stem cell transplantation (HSCT) and other cell therapies, including gene therapy, to improve outcomes. In addition to his clinical work with patients who have inherited metabolic diseases, Dr. Orchard is engaged in research designed to identify strategies that enhance the delivery of enzymes to the brain and the peripheral nervous system for patients who lack specific enzymes.  Other interests include the modification of stem cell transplant approaches and combination therapies to improve outcomes for patients with inherited diseases, and the potential to develop multi-institutional cooperative studies for these disorders.

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.

Jen Pyron | Advanced Therapy Account Manager, Orchard Therapeutics

Jen Pyron is an Advanced Therapy Account Manager at Orchard Therapeutics. She is dedicated to supporting the MLD community, bringing her expertise and passion to advance therapeutic innovation. Jen is committed to making a positive impact in the lives of patients and families impacted by a rare disease.

Hemalatha Rangarajan, MD | Clinical Associate Professor of Pediatrics

Dr. Hemalatha Rangarajan is a Clinical Associate Professor of Pediatrics in the division of Blood and Marrow Transplant and Cellular therapy  at Nationwide Children’s Hospital (NCH), Columbus Ohio. Dr. Rangarajan received her medical degree from India and subsequently trained in the UK and USA. She completed her fellowship in Pediatric hematology, oncology, and Bone marrow transplant from the Medical College of Wisconsin.. Dr. Rangarajan’s clinical and research interests include stem cell transplant and gene therapy for non-malignant disorders, including leukodystrophies, and the study of complications post allogeneic stem cell transplant. Dr. Rangarajan leads the ex-vivo gene therapy for pediatric non-malignant diseases program at NCH. She is also a member of the Krabbe Newborn Council and also is part of the multidisciplinary leukodystrophy clinic at Nationwide Children’s Hospital. Nationally Dr. Rangarajan is co-chair of the Health Services and donor safety committee of the Center for International Bone Marrow Transplant Research (CIBMTR) and is a also member of the American Society of Transplant and Cellular therapy Gene Therapy Task Force.

Margie Ream, MD, PhD | Pediatric Neurologist

Dr. Margie Ream is a Child Neurologist, Associate Professor, and Residency Program Director in the Department of Pediatrics at Nationwide Children’s Hospital/The Ohio State University College of Medicine. She has an extensive research background in fetal physiology and nervous system development as this was the focus of her PhD thesis work. 

Jennifer Rubin, MD | Child Neurologist

Dr. Jen Rubin is a child neurologist at Ann & Robert H. Lurie Children’s Hospital of Chicago where she is director of the Leukodystrophy Care Center, a multidisciplinary program developed to provide the best possible care to patients with leukodystrophies and their families at every stage of their disease.

Darrin Sevier | KY Public Health Laboratory Scientist Supervisor

Darrin Sevier is the Public Health Laboratory Scientist Supervisor for the Molecular Chemistry section of the Kentucky Newborn Screening laboratory.  He has worked in the Kentucky Newborn Screening laboratory for 23 years.

Shalini Shenoy, MD |Director of the Pediatric Stem Cell Transplant, St. Louis Children’s Hospital

Dr. Shalini Shenoy is the Teresa J Vietti Scholar and Professor of Pediatrics at Washington University School of Medicine in St. Louis, MO. She is the Director of the Pediatric Stem Cell Transplant and Cellular Therapy Program at St. Louis Children’s Hospital and a member of the Siteman Cancer Center. She has previously served as the Medical Director of the Children’s Hospital Blood Bank and briefly as the interim Division Chief of the Division of Pediatric Hematology Oncology.

Dr. Shenoy’s research focuses on improving outcomes and immune reconstitution after stem cell transplantation for non-malignant disorders, primarily metabolic disorders, sickle cell disease, and bone marrow failure by optimizing donor, conditioning, and transplant in a diagnosis dependent fashion, tracking complications long-term, and intervening as needed. In this context, she has led national trials of transplant, and authored or co-authored >100 publications.

Dr. Shenoy completed medical education in India, and residency and fellowship training in the United States. During the course of her career, she has trained and mentored many pediatric transplant physicians, fellows and residents that now practice at several premier institutions across the country. Dr. Shenoy and her team provide state of the art transplant, cellular therapy, and gene therapy related care at St. Louis Children’s Hospital for children with a variety of malignant and non-malignant disorders.

Robert Thompson Stone, MD | Pediatric Neurologist

Dr. Robert Thompson Stone is a pediatric neurologist with special expertise in caring for children with immune conditions affecting the neurologic system and those with inherited disorders of white matter (leukodystrophy). He currently serves as Director of the Pediatric Neuroimmunology and Multiple Sclerosis Program and Director of the UR Leukodystrophy Care Center.

Sarah Waite-Ardini | Senior Director, Strategic Partnerships

Sarah Waite-Ardini is the Senior Director, Strategic Partnerships at Impact Education, LLC. IMPACT is a medical education agency specializing in education for managed care professionals. In her current role, Sarah collaborates with national patient advocacy groups to develop and inform these CE programs. Prior to joining IMPACT, Sarah was the Director of Patient Engagement at the Huntington’s Disease Society of America and also served as the Director of Education at the National Bleeding Disorders Foundation (until recently known as the National Hemophilia Foundation, NHF). While at NBDF/NHF, she oversaw educational programs for community members. Sarah has a Master’s degree in Health Communication and earned her Bachelor’s degree from Syracuse University. Sarah lives in in the New York City area with her family.

Christin Webb | Parent Advocate

Christin Webb is a 5th grade math and science teacher and basketball coach from Powell, Tennessee. She is the mother of three beautiful children, Mabry Kate, Owen, and Sonnie. Both Mabry Kate and Owen were diagnosed with Krabbe Leukodystrophy. Mabry Kate was born March 13, 2014 and passed away February 7, 2015. Though her life was cut very short, it was one of even greater purpose. Because of Mabry Kate, her little brother, Owen, was tested in utero and screened positive for Krabbe before he was born. Owen was born March 30, 2015 at Duke University Hospital and transplanted April 22, 2015. He is now 9 years old and doing remarkably well. Christin and her husband, along with the May and Measles families, advocated for Krabbe to be added to the Tennessee newborn screening panel. The Mabry Kate Webb Act was officially implemented in Tennessee on July 1, 2017. Christin also serves on the Leukodystrophy Care Network’s Steering Committee. She has also been a part of the LCN’s Treatment workgroup and their efforts in publishing Clinical Practice Guidelines of transplant for both medical professionals and families, as well as participating in a work group that led to the publishing of a piece on the families’ perspectives of the importance of Krabbe newborn screening. Christin is very passionate about helping in any way possible to add Krabbe Disease to the newborn screening panel in every state.

Amy White, MS, CGC | Genetic Counselor

Amy White is a laboratory genetic counselor at Mayo Clinic Biochemical Genetics Laboratory, where she specializes in diagnostic testing of inborn errors of metabolism, communication with physicians and other clinicians, and scientific education and research activities. Ms. White completed her undergraduate degree at Lawrence University and obtained a master’s degree in medical Genetics-Genetic Counseling from the University of Wisconsin-Madison. She is board-certified by the American Board of Genetic Counseling and a licensed genetic counselor in Minnesota and Wisconsin.

Ms. White has an academic rank as an Assistant Professor of Laboratory Medicine and Pathology in Mayo Clinic College of Medicine and Science. Prior to this, she was a clinical genetic counselor in the Metabolic Genetics Clinic at Children’s Wisconsin for over 12 years. She has been actively involved in newborn screening programs in both Wisconsin and Minnesota for a combined 20 years. Amy’s most recent work has focused on the collection and analysis of data on biochemical analyses in individuals with Krabbe
disease.

Angela Wittenauer MSN, FNP-C, RN | Director, GA NBS Follow Up

Angela Wittenauer MSN, FNP-C, RN is a nurse practitioner at Emory University in Atlanta, Georgia.  Since 2009 she has served as the Director of Newborn Screening Follow Up for the state of Georgia.  In this r0le she has initiated several pilot newborn screening programs including the recently concluded pilot for Krabbe screening.  She also engages with the metabolic community as a nurse practitioner in Emory’s Metabolic Genetics Clinic.  She loves teaching patients about metabolic disorders and how to live their best lives with these diagnoses.