André S. Bachmann, PhD

André S. Bachmann, PhD is a Professor of Pediatrics at Michigan State University, College of Human Medicine, and Associate Chair for Research in the Department of Pediatrics and Human Development. His extensive research on polyamines includes the pre-clinical development of a treatment of relapsed pediatric neuoblastomas by interference with polyamine synthesis. With Dr. Calep Bupp, he recently co-discovered an inherited disorder of polyamine metabolism now referred to as Bachmann-Bupp Syndrome in which an ODC1-gene linked gain-of-function disorder leads to excess putrescine production. He is also an expert on the discovery and development of natural product based drugs.

André has a PhD in Biology from the University of Zurich and is the current elected Chairperson of the biannual Gordon Research Conference (GRC) on Polyamines which is the most important ongoing research meeting focusing on polyamines.

Caleb Bupp, MD, FACMG

Caleb Bupp MD, FACMG is a Clinical Assistant Professor in Pediatrics and Human Development at Michigan State University and Chief of the Division of Medical Genetics and Genomics at Spectrum Health Helen DeVos Children’s Hospital in Grand Rapids.

His clinical interests include clinical genetics, dysmorphology and the genetic causes of autism and intellectual disability. He has collaborated with Dr. Bachmann in the discovery and potential treatment of Bachmann-Bupp Syndrome and his presentation will cover the current state of knowledge of this condition in which excess putrescine is produced as a result of increased levels of ornithine decarboxylase.

Caleb has an MD  from the University of Toledo College of Medicine. He did a pediatric residency at the University of Louisville and a medical genetics residency at Greenwood Genetic Center where SRS was first shown to be due to a mutation in the spermine synthase gene.

Mark R. Burns, PhD

Mark R. Burns, PhD is the President & CSO of Aminex Therapeutics, Inc. This company is developing drugs that influence polyamine content in cancer cells and has a drug combination in clinical trails which supports activation of the immune system to attack primary cancer and block metastasis.

Mark obtained his PhD in Chemistry from the University of Michigan and has many years of experience in medicinal chemistry with a focus on compounds affecting polyamine levels.

Robert A. Casero, Jr., PhD

Robert A. Casero, Jr., PhD is Professor of Oncology and Associate Director, Shared Resources at The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine. He has more than 30 years of experience in studying polyamine metabolism and has been particularly influential in characterizing the enzyme involved in polyamine interconversion and degradation and in developing drugs and drug combination that affect polyamine content and may be used for cancer treatment and chemoprevention of infection/inflammation associated carcinogenesis.

Bob obtained a PhD in Pharmacology from the State University of New York at Buffalo, Roswell Park Cancer Institute. He has published more than 170 papers in the polyamine field and is a past Chairperson of the (GRC) on Polyamines.

Fernando A. Fierro, PhD

Fernando A. Fierro, PhD is an Assistant Professor at the Sacramento Campus of the Department of Cell Biology and Human Anatomy, University of California, Davis. He carries out research in the Stem Cell Program to study ways to alter gene expression in multipotent mesenchymal stem cells/bone marrow stromal cells to understand the basic mechanisms involved in their differentiation, proliferation and self-renewal, and to optimize their therapeutic potential for applications such as bone repair. He has published several recent papers on impaired bone formation in SRS cells and in animal models with altered spermine synthase and discusses this work in his presentation.

Eugene W. Gerner, PhD

Eugene W. Gerner, PhD is the Chief Scientific Officer at Cancer Prevention Pharmaceuticals, Tucson. He spent more than 30 years as a Professor at University of Arizona College of Medicine where he studied polyamine metabolic pathways and function and directed cancer research program which pioneered the development of inhibitors of the polyamine pathway to treat and prevent cancer and other diseases. He co-founded Cancer Prevention Pharmaceuticals to continue the clinical development of drugs to reduce cancer risk and reoccurrence. The company is conducting clinical trials with regimes that influence polyamine content in Familial Adenomatous Polyposis and other intestinal cancers.

Gene has a PhD degree in biophysics from the University of Texas Graduate School of Biomedical Sciences in Houston and a past chair of the GRC on Polyamines.

Dwi U. Kemaladewi, PhD

Dwi U. Kemaladewi, PhD is an Assistant Professor of Pediatrics and Human Genetics at the University of Pittsburgh. Her research focuses on understanding and treating muscular dystrophies, including muscle atrophy, regeneration, fibrosis, and nerve damages. She uses methods to change gene expression in animal models of human pathophysiology to develop potential treatments for these conditions. Dwi has studied polyamine alterations in neuromuscular disease including changes seen in SRS and will discuss her work on a mouse model of SRS. 

Dwi has a PhD in Human Genetics from Leiden University Medical Center, the Netherlands and was a Postdoctoral Fellow at The Hospital for Sick Children, Toronto, Canada.

Mary Jo Kutler, DO, FACOP

Mary Jo Kutler, DO, FACOP is a member of the Medical Advisory Board for the Snyder Robinson Foundation and the Principal Investigator of the Snyder-Robinson Global Registry and The Natural History Study. She retired from general pediatrics in Phoenix, Arizona after 26 years in private practice where she helped manage the medical care of two fragile SRS brothers from birth to adulthood for over 22 years. She completed an accelerated BSDO program at the New York Institute of Technology College of Osteopathic Medicine. She completed an adult rotating internship at Massapequa General Hospital in Massapequa, New York as well as a pediatric residency at Phoenix Children’s Hospital and Maricopa Medical Center.  She is board certified by the American Osteopathic Board of Pediatricians and is a Fellow with the American Board of Pediatrics.

Tracy Murray Stewart, PhD

Tracy Murray Stewart, PhD is a Senior Research Scientist, Division of Cancer Genetics and Epigenetics, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore. She works with Bob Casero on studies on polyamine metabolism/interconversion and on developing drugs and drug combinations that affect polyamine content and may be used for cancer treatment and chemoprevention. She has published 50 papers describing polyamine metabolism, the role of polyamines in normal and malignant growth and the therapeutic potential of drugs affecting polyamines. Tracy has recently been investigating some polyamine analogs such as methylated spermine derivatives that are resistant to degradation to substitute for spermine and support normal function in SRS cells. Her presentation will describe this work and its potential for therapy.

Tracy has a PhD in Cellular and Molecular Medicine from Johns Hopkins University.

Vinodh Narayanan

Vinodh Narayanan, MD is Medical Director for TGen’s Center for Rare Childhood Disorders in Phoenix, Arizona. He received his MD from Louisiana State University Medical School, New Orleans, Louisiana, and completed his internship and residency in pediatrics at the Johns Hopkins Hospitals, Baltimore, Maryland. He is certified by the American Board of Pediatrics and the American Board of Psychiatry and Neurology (with special competence in Child Neurology). 

Dr. Narayanan has a special interest in the genetic basis of neurological disorders. In 2005, he began a clinical research partnership with TGen by establishing the CHC-BNI-TGen Pediatric Neurogenetics Center (Center for Excellence) at the Children’s Health Center, St. Joseph’s Hospital and Medical Center. In 2012 he became the Medical Director for TGen’s Center for Rare Childhood Disorders. The Center uses next generation sequencing to help diagnose children with neurological disorders of unknown genetic etiology. His research interests include the neurobiology of genetic disorders (genes to pathogenesis), cell adhesion molecules and synapse formation. 

Katie Parker, MSPT

Katie Parker, MSPT studied physical therapy at Boston University and did her pediatric training at Denver Children’s’ Hospital. She began her career at Children’s National in DC where she provided services to inpatient including the NICU and outpatient. She is certified in Neuro-Developmental Therapy.  She now provides PT services to the Early Intervention population in Washington DC through Play-Based Physical Therapy and she owns KTPT, LLC, which provides pediatric PT to children in the home setting in Northern Virginia and Washington, D.C. 

Anthony Pegg, PhD

Tony Pegg, PhD is Evan Pugh Professor of Cellular and Molecular Physiology Emeritus, Pennsylvania State University College of Medicine. He has extensive experience in research into the synthesis, metabolism and functional significance of polyamines. He has published more than 300 papers in this field dating back to the mid-1960s when he characterized all of the enzymes in the mammalian polyamine biosynthetic pathway including spermine synthase, the enzyme defective in SRS. More recently, his laboratory published studies on the structure and mechanism of the human spermine synthase and collaborated with Charles Schwartz in studies showing the defective activity of this enzyme in cells derived from SRS patients and the altered polyamine ratios in these cells. His group also published papers describing the altered physiology in a mouse strain with a chromosomal deletion of part of the X chromosome that includes the gene for spermine synthase.

Angela Peron, MD

Angela Peron, MD is an attending physician in clinical genetics at San Paolo University Hospital in Milan, Italy, and an adjunct assistant professor of Pediatrics at the University of Utah in Salt Lake City. She is also completing her PhD at the University of Milan, Italy.

Her clinical interests include dysmorphology and genetics of neurodevelopmental disorders in children and adults. Her research focuses on Tuberous Sclerosis and the genetic causes of ultra-rare syndromes, autism, and epilepsy. In 2012 she identified the first Italian patient with SRS in collaboration with Dr. Charles Schwartz, and continues to provide care for several SRS patients. Her presentation will cover the results of the first analysis of the SRS Registry focusing on clinical manifestations.

Angela received her medical degree from the Università Vita-Salute San Raffaele in Milan, and completed her medical genetics residency at the University of Milan, Italy.

Otto Phanstiel, PhD

Otto Phanstiel, PhD is Professor of Medical Education at the University of Central Florida College of Medicine, Orlando. His specialty is medicinal chemistry and he carries out research on the development of new drugs including compounds which target the polyamine transporter activity. These drugs starve cancers of key polyamines which limits their growth and blocks the spread of metastatic cells to other tissues. In his presentation, he will discuss development of methods to correct the imbalance in polyamines in cultured cells from SRS patients.

Otto obtained a PhD. in Organic Chemistry from the University of Florida and is another past chair of the GRC on Polyamines.

Charles Schwartz, PhD

Charles Schwartz, PhD has served in several capacities as a research scientist throughout his career. He served for 15 years as the Director at J.C. Self Research Institute at the Greenwood Genetic Center in Greenwood, SC, as Senior Research Scholar and is now Senior Research Scientist Emeritus of the Greenwood Genetic Center. He has been affiliated with 8 professional societies, is Board Certified in Clinical Molecular Genetics, has published 375 scientific journal articles and has co-authored two books and chapters in 11 books. Over 30 years of active research, he conducted extensive research focused on the causes of X-linked intellectual disabilities, birth defects, and autism. In collaboration with Tony Pegg, PhD, Schwartz discovered that a defect in Spermine Synthase results in Snyder-Robinson Syndrome (2003). Recently, in collaboration with a group in Canada, he identified a unique methylation profile (epi-signature) which exits in patients with SRS. He is now trying to determine if the dysregulated developmental pathways indicated by the profile can elucidate potential treatment modalities. Dr. Schwartz is the Chair of the Medical and Scientific Advisory Board for the Snyder-Robinson Foundation.

Roger Stevenson, MD

Roger Stevenson, MD co-founded the Greenwood Genetic Center in 1974 and developed a statewide system for delivery of genetic services. His clinical and research activities have focused on neurobehavioral abnormalities including intellectual disability, autism, and birth defects.

In 1989, he joined the research team led by Charles Schwartz at the GGC and Herb Lubs at the University of Miami, which was initially formed to clinically delineate and map the X-linked disorders that cause intellectual disability. A strategy of the team was to study all of the families originally reported with X-linked ID. The condition reported by Russell Snyder and Arthur Robinson in 1969 was on their radar from the start and in February 1991 in Rochester, NY, 11-month-old Stephen Leis was the first patient from the original family to be seen.

Courtney Thompson

Courtney Thompson is a Pediatric Behavioral Health Specialist at Children’s Hospital Colorado where she works in the Emergency Department with any patients who may have Psychiatric needs. Previously, Courtney worked in the field of Applied Behavioral Analysis (ABA) for 12 years. Her ABA experience includes in-clinic, in-home and camp based therapies. Courtney has also worked with Adam’s Camp for 6 years as an ABA Therapist. Adam’s Camp is a week long therapy camp in which a multidisciplinary team of therapists come together to create a fun and therapeutic experience for campers with special needs! Given that Courtney has worked directly with two Star SRS kids, she has begun creating a similar camp experience for children with Snyder-Robinson Syndrome! Courtney is very passionate about working with children with all needs and helping to ensure that all children she works with have the best care possible.

Patrick M. Woster, PhD

Patrick M. Woster, PhD is Professor and Chair of the Department of Drug Discovery and Biomedical Sciences at the Medical University of South Carolina, Charleston. He has wide experience in medicinal chemistry making drugs aimed at a variety of diseases including compounds designed as potential antitumor, antiparasitic and antibacterial agents. He has developed compounds changing gene expression, agents altering the bioavailability of various drugs and synthesized mechanism-based enzyme inhibitors of polyamine metabolism.

Pat has a PhD. in Medicinal Chemistry from the University of Nebraska Medical Center and is another past chair of the GRC on Polyamines.

Ebenezer N. Yamoah, PhD

Ebenezer N. Yamoah, PhD is a Professor of Physiology and Cell Biology in the institute of Neuroscience at the School of Medicine, University of Nevada, Reno. He is a world famous expert in hearing research and has published many papers on hearing mechanisms and age-related hearing loss. He directs a major program project grant funded by the National Institute of Aging research program to study the sensory epithelia in the inner ear and changes that lead to hearing deterioration. He previously demonstrated the importance of spermine synthase in studies showing mice lacking this enzyme were highly impaired in hearing and had a loss of endocochlear potential which could be corrected by transgenic expression of spermine synthase. Recently, he has studied a premature loss of hearing in a mouse model of SRS which he will discuss in his recorded presentation.

Ebenezer has an MD/PhD from the University of Alberta, Edmonton, Canada.

R. Grace Zhai, PhD

Grace Zhai, PhD is an Associate Professor in the Department of Molecular and Cellular Pharmacology and Senior Associate Dean for Basic Science Research at Miller School of Medicine, University of Miami. She studies fruit flies (Drosophila) as an animal model of neurodegenerative diseases. Her laboratory uses genetic and molecular biological approaches to study neural degeneration and protection. She has published an important study on SRS using this model in which she showed that mutation in the spermine synthase gene in Drosophila produces a pathological polyamine imbalance leading to survival defects and synaptic degeneration. She was able to link this to excessive spermidine catabolism, which generates toxic metabolites that cause lysosomal defects and oxidative stress. This work suggests that antioxidants may be useful in some SRS Patients and she will discuss the continuation of this work in her presentation.

Grace has a PhD in Neurobiology from the University of Alabama and was a Postdoctoral Associate at Baylor College of Medicine, Houston, where she worked with Professor Hugo Bellen one of the world’s premier researchers in Drosophila genetics. She is also the SRF 2019 Snyder-Robinson Syndrome Outstanding Researcher award winner.

Aamir Zuberi, PhD

Aamir Zuberi, PhD is a Technology and Resource Development Scientist and the leader of the Rare and Orphan Disease Program, The Jackson Laboratory, Bar Harbor. In this position he has developed more than 200 new mouse models in the last five years using CRISPR/Cas9, embryonic stem cell and transgenic strategies. These include mice with fully defined alterations in the spermine synthase gene on defined genetic backgrounds. These serve as much better models for SRS than a previous mouse model which was produced by whole body irradiation that deleted the spermine synthase and an adjacent gene on a mixed background. He will discuss these mice in his presentation and they are being used for research by several others presenters.

Aamir has a PhD in Microbial Molecular Genetics from the University of Sheffield, UK. He has more than 25 years of experience in molecular biology, genome manipulation and murine molecular genetics.