Donation History

Tara Mathiesen, BSN – Former Senior Director at Orchard Therapeutics leading their strategy for newborn screening and diagnostic partnerships with a strong patient advocacy focus. Over 20 years of pharmaceutical and biotech experience combined with a BS in Nursing and familial rare disease experience. Disease expertise in MLD, Niemann Pick Type C, Hypophosphatasia, Hematology, and Nephrology. Tara received her BS in Nursing at Texas Christian University where she was honored as a member of Sigma Theta Tau Nursing Honor Society. Prior to her biopharma career, she worked as a nurse.

MLD Foundation – MLD Foundation is a 20-year-old registered charity and has been serving families around the world since 2001. Their mission is We C.A.R.E.™ … Compassion for families, increasing Awareness, influencing & funding Research, and promoting Education for metachromatic leukodystrophy, a very rare terminal genetic neuro-metabolic disease where over half the cases affect infants.  MLD Foundation will be providing administrative, accounting, and infrastructure support to the RUSP Nomination project.  Working closely with Professor Michael Gelb from the University of Washington, Teryn Suhr, MLD Foundation’s Executive Director, has been instrumental in helping and identifying the use of sulfatides in blood as the first tier technique for MLD Newborn Screening. MLD Foundation has and will continue to take the lead in coordinating funding for this project, including direct engagements and contracts with nearly all of the MLD biopharma partners and the general public for support.

Brad Therrell, Ph.D. – Director of the National Newborn Screening and Global Resource Center.  He retired as Professor/Research, Department of Pediatrics, University of Texas Health Science Center at San Antonio (UTHSCSA), in January of 2013 and is currently serving as an Adjunct Professor in the Department of Pediatrics. Dr. Therrell worked for over 28 years for the Texas Department of Health (TDH) Bureau of Laboratories as Director of the Chemical Services Division with management responsibilities for newborn screening, clinical chemistry, biochemistry, cytogenetic testing, toxicology, and blood banking programs. Brad is a founding member and a Past President and Secretary of the International Society for Neonatal Screening (ISNS) and is a Robert Guthrie Award winner. He served as Secretary of Policy of the Council of Regional Networks for Genetic Services and Chairman of its Newborn Screening Committee and was a long-serving member of the U.S. Health and Human Services Select Technical Assistance Team for Newborn Screening, a member of several National Committee for Clinical Laboratory Standards Subcommittees on Newborn Screening, and an expert reviewer for the International Atomic Energy Agency. He is a graduate of Florida State University

Don Bailey, Ph.D. MEd – Distinguished Fellow, Early Childhood Development, chair of the RTI Fellow Program, and Director of RTI’s Center for Newborn Screening, Ethics, and Disability Studies. Dr. Bailey was recently a member of the ACHDNC, which will be receiving the MLD RUSP Nomination.  He is internationally known as an expert on young children with disabilities. For 27 years, he was on the faculty of the University of North Carolina at Chapel Hill where he was a W.R. Kenan, Jr. Distinguished Professor and, for 14 years, director of the Frank Porter Graham Child Development Institute. Dr. Bailey’s research addresses early identification and early intervention for children with disabilities, as well as family adaptation to disability. For 20 years, his work has focused on children and families with fragile X syndrome, the leading inherited cause of intellectual impairment. Don and his team have developed a partnership with the North Carolina State Laboratory of Public Health, and have secured funds to help the newborn screening program conduct pilot studies and research. He has also developed a partnership with the Altino Ventura Foundation in Recife, Brazil, to develop a longitudinal study of children with congenital Zika syndrome. He has over 200 peer-reviewed publications and received his Ph.D. from the University of Washington.

Marc Patterson, MD – Dr. Patterson is a Pediatric Neurologist at the Mayo Clinic in Rochester, MN., and is a professor of neurology, pediatrics, and medical genetics, and chair of the Division of Child and Adolescent Neurology. He previously served as director of the Child Neurology Training Program at Mayo Clinic (2008-2016). His research and practice are focused on rare diseases in children, including Neurogenetics and developmental disorders, Niemann-Pick disease, type C, and other lysosomal diseases.  He has published more than 300 peer-reviewed papers and book chapters. He has presented widely throughout the United States and internationally, both to professional and lay organizations. He is currently an editor for the Journal of Inherited Metabolic Disease. He became editor-in-chief of the Journal of Child Neurology on Jan. 1, 2014, and subsequently editor-in-chief of its open-access sister journal, Child Neurology Open. His roots are down-under, in Australia.

Melissa Wasserstein, MD MS – Dr. Wasserstein is Chief, Division of Pediatric Genetic Medicine at Children’s Hospital at Montefiore, as well as a Professor for both the   Department of Pediatrics and the Department of Genetics, and Associate Professor of Pediatrics at Albert Einstein College of Medicine, as well as a clinical researcher working on safety and effectiveness of novel treatments for patients with inborn errors of metabolism. Prior to joining CHAM, Dr. Wasserstein was Director of the Program for Inherited Metabolic Diseases at Mount Sinai Health System.  Dr. Wasserstein is the Principal Investigator for the NIH and consortia-funded ScreenPlus pilot study program which will evaluate 13 new screens, including MLD.

Joe Orsini, Ph.D. – Dr. Orsini is Deputy Director of the Newborn Screening Program at the New York State Department of Health’s Wadsworth Center, one of the most advanced NBS labs in the nation, screening over 250,000 samples annually, across 47 disorders. The laboratory was the first to implement screening for Krabbe disease and high volume testing for X-ALD, and the second to screen for Pompe disease. Gene sequencing is done on all screen positives for these disorders. They have supported pilot studies for four other lysosomal storage disorders: Gaucher disease, Hurler’s disease, Niemann Pick A/B disease, and Fabry disease and will soon be supporting the 13 screens being piloted under the ScreenPlus program, one of which is MLD. Dr.Orsini is active with the APHL Quality Assurance / Quality Control subcommittee, and chair of the Hunter’s Hope Krabbe Disease Newborn Screening Task Force (a national group of newborn screeners, clinicians, and treating physicians). He has helped to develop newborn screening recommendations for laboratories across the country. Dr. Orsini is a graduate of the University of Vermont.

Joan Keutzer, Ph.D. – Dr. Keutzer retired in 2019 from Sanofi/Genzyme, where she had worked since 1995. As Vice President of Scientific Affairs, she had been involved in the development of therapies for MPS I, Fabry disease, and Pompe disease, including initiating efforts in developing newborn screening assays for the lysosomal storage diseases (LSDs), patient monitoring assays, and an improved diagnostic assay for Pompe disease. In 2003, she established the LSD diagnosis, monitoring, and screening group in Genzyme R&D to focus on translating published research methods into protocols for use in clinical and newborn screening labs. She received her Ph.D. in cellular and molecular biology from the University of Kentucky, School of Biological Sciences.

Amy Gaviglio, MS CGC – Ms. Gaviglio is a Certified Genetic Counselor. While working for the Minnesota Department of Health, Newborn Screening Program she oversaw the follow-up of newborn screening results, aided in statewide educational efforts on newborn screening and genetics, and worked on genetics-related policy in the state. She holds special interests in public health genetics and genomics as well as ELSI issues in biobanking. Amy is the current co-Chair of the National Society of Genetic Counselor’s Public Health Special Interest Group and is currently contracted to the CDC in support of their newborn screening efforts. She is a graduate of the University of Michigan.

Maria Escolar, MD MS – Dr. Escolar is a pediatrician, clinical professor, and researcher who specializes in pediatric neurodevelopmental disabilities. She is the Founder and Director of the Program for the Study of Neurodevelopment in Rare Disorders at Children’s Hospital of Pittsburgh of the University of Pittsburgh Medical Center. She has extensive clinical experience with MLD and has been extensively involved in newborn screening for Krabbe disease.

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