Faculty

Bio

Susan A. Berry, MD is a Professor for Genetics and Metabolism in the Department of Pediatrics at the University of Minnesota. She attended Rice University where she received her degree in Biochemistry and the University of Kansas for her Doctor of Medicine degree. She has been at the University of Minnesota since 1978 where she completed her residency in Pediatrics and was a fellow in Medical Genetics. She joined the staff of the Department in 1984 and is currently a Professor in the Departments of Pediatrics, Ophthalmology and Genetics, Cell Biology and Development. She is a member of the Minnesota Department of Health Newborn Screening Advisory Committee, of the Society for Inherited Metabolic Disease, of the American Society of Human Genetics and is a Fellow of the American Academy of Pediatrics and of the American College of Medical Genetics. She is board-certified by the American Board of Pediatrics and American Board of Medical Genetics.
As a nationally recognized geneticist and expert in inborn errors of metabolism, Dr. Berry sees both child and adult patients for genetic consultation at University of Minnesota Physicians Pediatric Specialty Clinic. She also attends the Pediatric and Adult Metabolic Clinics, providing care for children and adults with inborn errors of metabolism. She also offers her expertise for inpatient consultation and care. Dr. Berry's research focuses on long-term follow up for newborn-screened conditions.

Clinical Summary

Genetic diagnosis and consultation; Inborn errors of metabolism; Vascular anomalies

Bio

Dr. Billington's research looks at variable phenotypes of genetic conditions. In the past he has done research on Williams Syndrome and on animal models of brain and facial malformations and now is interested in working to develop work around the variability of brain and vascular differences in other genomic syndromes. Clinically he is also interested care for patients with inborn errors of metabolism, particularly urea cycle disorders and maple syrup urine disease. He is excited to return to Minnesota to join a growing pediatrics genetics group.

Bio

Dr. Dobyns is Professor of Pediatrics and Director of the Division of Genetics and Metabolism at the University of Minnesota. He joined the Faculty in June 2020 for his second tour at the U, having worked in the Division of Pediatric Neurology from 1992-1998. He is a physician-scientist who studies the nature and causes of developmental brain disorders, and is a leading authority on the causes of human brain malformations. While best known for his work on lissencephaly (smooth brain) and megalencephaly (enlarged brain), he provided the original descriptions for more than 10 clinically recognizable and now well-known syndromes including Smith-Magenis syndrome, rapid-onset dystonia-parkinsonism, coloboma-renal syndrome, bilateral frontoparietal cobblestone malformation, megalencephaly-capillary malformation syndrome (MCAP), megalencephaly-polymicrogyria-polydactly-hydrocephalus syndrome (MPPH) and X-linked lissencephaly with abnormal genitalia (XLAG), all of these now linked to the underlying gene or genes. He co-discovered at least 14 pathogenic copy number variants including the well-known deletion 17p13.3 (Miller-Dieker syndrome), deletion 17p11.2 (Smith-Magenis syndrome) and deletion 16p11.2 (autism and intellectual disability), and co-discovered almost 70 human disease genes.
Dr. Dobyns has also designed and published the major classification systems now in use for brain malformation, and several of the terms that we now use for these disorders come from his work, for example: "malformations of cortical development"; "cobblestone malformation", and "dysgyria". He has also made contributions on the causes of neurodegenerative disorders and developmental disorders of other systems, such as vascular malformations. Dr. Dobyns has served as Principle Investigator on major NIH grants since 1999, and recently published his 400th peer-reviewed scientific paper. In recognition of these and other accomplishments, he received the 2018 Bernard Sachs Award for research in neuroscience with relevance to the care of children with neurological disorders from the Child Neurology Society.

Research Summary

Neurodevelopmental disorders especially those associated with abnormal brain size, malformations and epilepsy, vascular malformations, mosaicism. 

Bio

Jeanine Jarnes, PharmD, is an Assistant Professor in the University of Minnesota Department of Pediatrics and is an adjunct assistant professor in the College of Pharmacy, University of Minnesota. Jeanine is a board certified Pharmacotherapy Specialist, as well as having a board certification in oncology pharmacy. Jeanine works as a pharmacotherapy provider for patients with inherited metabolic diseases at the University of Minnesota Specialty Clinics. She also serves as a Clinical Pharamcogeneticist for the Lysosomal Disease Network and as a clinical researcher for patients with lysosomal diseases. Dr. Jarnes's research includes projects in the following areas: natural history of gangliosidosis diseases, such as Tay-Sachs disease, Sandhoff disease, and GM1-gangliosidosis, using a substrate reducing therapy protocol for treatment of childhood gangliosidosis diseases, classifying and managing infusion reactions to intravenous enzyme replacement therapies for lysosomal diseases, and pharmacokinetics and pharmacodynamics of ERT and of small molecule therapies.

Research Summary

Longitudinal study of the gangliosidosis diseases and development of new treatment therapies.
Pharmacogenetics, pharmacodynamics, and pharmacokinetics of enzyme replacement therapies and small molecule therapies for lysosomal diseases and phenylketonuria (PKU).
Combination therapies for lysosomal diseases, including Tay-Sachs disease, Gaucher disease, and MPS diseases.
Optimizing management of acute, delayed, and biphasic infusion reactions to intravenous enzyme replacement therapy for lysosomal diseases.
Pharmaceutical care impact on clinical outcomes in lysosomal diseases and phenylketonuria (PKU).
Lysosomotropic agents and their impact on lysosomal diseases.

Bio

Dr. Nishitha Pillai is an Assistant Professor in the Division of Genetics & Metabolism at The University of Minnesota. She received her medical degree from the Government Medical College Kozhikode in India and completed her Pediatric Residency at Inova Children's Hospital in Farifax, Virginia. Subsequently, she completed her Medical Genetics Residency as well as clinical fellowship in Medical Biochemical Genetics at Baylor College of Medicine - Texas Children's Hospital in Houston.
Dr. Pillai specializes in medical genetics and inborn errors of metabolism for patients of all ages. Dr. Pillai's career goal is to treat patients with metabolic disorders and conduct translational research investigating new therapies for inborn errors of metabolism. She is particularly interested in lysosomal storage diseases and overgrowth syndromes.

Research Summary

Lysosomal storage diseases & somatic and vascular overgrowth syndromes

Bio

Dr. Michael Przybilla is currently an Assistant Professor in the Department of Pediatrics, Division of Pediatric Genetics & Metabolism. He graduated from the University of Minnesota Twin Cities in 2012 with a BS in Biology. He received his PhD in Molecular, Cellular, Developmental Biology & Genetics at the University of Minnesota in 2018. From 2019-2022 he was a postdoctoral assistant in the Gene Therapy and Diagnostics Laboratory, working with Dr. Chester B. Whitley. His work focused on the development and characterization of murine models of lysosomal diseases and the development of novel therapies for such diseases. He joined the Department of Pediatrics Faculty in 2022.

Research Summary

Dr. Przybilla's research has focused on the development of animal models of lysosomal diseases and has progressed into the development and testing of novel therapies for such diseases including enzyme replacement therapy, small molecule chaperones, gene therapy, and gene editing. Currently, his research is focused on developing a gene therapy that can potentially serve as a platform technology to treat multiple lysosomal diseases. Additionally, Dr. Przybilla is collaborating with several research groups to test conduct preclinical studies for potential therapeutics for several lysosomal diseases.Interests include: Therapeutic development for genetic diseases, with a focus on lysosomal diseases.

Bio

Dr. Kyriakie Sarafoglou is a Professor who holds appointments in the Department of Pediatrics -- Divisions of Endocrinology and Genetics & Metabolism, University of Minnesota Medical School; and the Department of Experimental & Clinical Pharmacology, University of Minnesota College of Pharmacy. She is active in clinical research, patient care, and the education of medical students, pediatric residents, medical scientists, and post-doctoral trainees. Dr. Sarafoglou specializes in rare endocrine and metabolic disorders holding multidisciplinary clinics that care for patients with congenital adrenal hyperplasia and disorders of sex development, hypophosphatasia, Turner syndrome, and inborn errors of metabolism (e.g. congenital disorders of glycosylation). Her research is funded by the National Institutes of Health, Food and Drug Administration, March of Dimes, and industry. Her critically acclaimed textbook published by McGraw Hill, Pediatric Endocrinology and Inborn Errors of Metabolism, is currently in its 2nd Edition and includes 140 contributors from 18 countries, covering approximately 700 endocrine and metabolic disorders.

Research Summary

Congenital Adrenal Hyperplasia

Clinical Summary

Adrenal and intersex disorders; Disorders of pubertal development; Inborn errors of metabolism

Clinical Summary

Genetics; Phenylketonuria; Inborn errors of metabolism