Here are our speakers:
Meredith Wilson, M.D. Making Sense of the ZEB2 GENE
Meredith Wilson is a consultant medical geneticist based in the Department of Clinical Genetics at Children’s Hospital Westmead, one of the two major pediatric hospitals in Sydney, New South Wales, Australia. After medical school in Adelaide, Meredith initially trained as a pediatrician in Sydney, then did further training in clinical genetics in Sydney and at the Murdoch Institute in Melbourne. She has been a consultant clinical geneticist since 1991 at the Children’s Hospital at Westmead and also at the Westmead adult hospital nearby. Meredith was Head of the Children’s Hospital Department of Clinical Genetics from 1998-2008 and head of the Westmead Hospital Adult Genetics service until this year, and was appointed as a Clinical Associate Professor in the University of Sydney in 2009. Meredith’s work involves many areas of clinical genetics, and includes consultations with families and patients of all ages, in prenatal, neonatal, pediatric and adult genetics areas. She has contributed to a number of scientific papers in regard to different genetic syndromes.
In the late 1990’s when David Mowat was also working at the Westmead Children’s Hospital, they together identified a group of children with very similar features, which they subsequently published in the Journal of Medical Genetics in 1998 as a “new” syndrome. That condition later became known as Mowat-Wilson syndrome, in acknowledgement of the fact that David and Meredith were the first to recognize and describe this important genetic syndrome.
David Mowat, MBBS, MRCGP, DRACOG, FRACP Making Sense of the ZEB2 GENE
Dr David Mowat is an experienced clinician and researcher with a primary interest in the diagnosis of genetic causes of rare disease/ syndrome recognition and translational medicine to improve clinical outcomes. He is an AI in genomic projects in different disease cohorts including rare Mendelian disorders, intellectual disability and adult/ pediatric, neuromuscular disorders. He is responsible for the recognition of an important syndromal cause of intellectual disability – Mowat-Wilson syndrome and has contributed to the discovery of a number of novel disease-causing genes. He is the Co-Head of the Centre of Clinical Genetics and Co-director of the Tuberous Sclerosis clinic and research collaboration at Sydney Children’s Hospital.
Jay L. Vivian, Ph.D. The Basics of Genetic
Jay Vivian is a Research Associate Professor and Director of the Rare Disease Research Center at Children’s Mercy Research Institute Kansas City and Scientific Director of the Transgenic and Gene Targeting Facility at the University of Kansas Medical Center. His research focuses on understanding rare and undiagnosed diseases and novel variants identified in patient genome sequencing data, using genetically modified mice and pluripotent stem cells.
These efforts make extensive use of genome editing methods. A native of Illinois, he obtained his PhD in developmental genetics at the University of Texas M.D. Anderson Cancer Center. He currently serves on the Board of Directors of multiple rare disease foundations, including RareKC and the Mowat-Wilson Syndrome Foundation.
Margaret Adam, M.D. Developing a MWS Biorepository
Dr Margatet Adam is a clinical geneticist and Professor of Pediatrics at the University of Washington/Seattle Children’s Hospital. She spends 50% of her time evaluating and treating patients, 20% of her time involved in clinical research and a further 30% of her time as Editor-in-chief for the online, peer-reviewed genetics resource GeneReviews.
A major research focus for her has been on the characterization and treatment of individuals with Mowat-Wilson syndrome (MWS). She is on the Medical Advisory Board to the Mowat-Wilson Foundation and worked in collaboration with them to develop the Mowat-Wilson syndrome registry. Currently she is working with the MWS Foundation and basic science researchers to develop a biobank that will further our understanding of the biological mechanisms that lead to the features seen in individuals with MWS. This is the first step in helping to understand how we can design targeted therapeutics in the future.
Gemma Mole Life With Paul
I grew up with the most gentle soul you could meet. My brother, Paul, was the centre of my family’s life and my parents, Jackie and Terry, put his needs first. Paul’s life and death shaped my life greatly.
I am married to Adrian and we have 16 year old twin daughters, Lori and Siena. I work as an Audiologist/Hearing Therapist in the UK.
Title of my Presentation – Life with Paul (Sept 5th 1957 – April 8th 2019)
Dr. Sumantra Chattejee All roads lead to Rome: New Genetic Approaches to Understand Interconnection Between Multiple Genes in Complex Diseases
Sumantra Chatterjee is a senior research scientist at the Centre for Human Genetics and Genomics in NYU School of Medicine, New York. He has trained both as a developmental biologist and a human geneticist studying complex congenital diseases. As post-doctoral fellow in Johns Hopkins University School of Medicine, his work on Hirschsprung disease uncovered how multiple genes and mutations are interconnected, which helped to explain the severity of the disease observed in different patients and help classify patients better.
His current interest is in trying to understand the genetic basis of the systemic nature of many of these congenital diseases for a complete understanding of disease progression, better patient classification and hopefully therapeutic intervention in the future.
Dr. Ellen Fremion Transitioning From Pediatric To Adult Care
Ellen Fremion, MD is a combined-trained Internal Medicine-Pediatric physician at Baylor College of Medicine Transition Medicine Clinic, a primary care medical home for adults with intellectual and developmental disabilities with complex medical care needs who have transitioned from pediatric care. She is also the founder and program director for the Texas Children’s Spina Bifida Transition Clinic which prepares adolescents with spina bifida for transitioning to adult care and life via comprehensive care planning, care coordination, and self-management goal setting. She has developed a peer mentorship program in which individuals with intellectual/developmental disabilities mentor their peers on how to navigate adult healthcare and independent living. She is also a clinical educator, teaching medical students and residents how to care for adults with intellectual/developmental disabilities and their transition to adult healthcare needs. She also enjoys being a wife, a mom to three wonderful boys, and a Sunday School teacher.
Dr. Rebekah Charney Using pluripotent stem cells to explore the neural crest cell contribution to Mowat-Wilson Syndrome
Dr. Rebekah Charney is a developmental and stem cell biologist currently working as a postdoctoral research fellow at the University of California Riverside. Dr. Charney’s research focuses on the formation of cell types during early development and how changes in these processes can lead to birth defects. Her work makes use of human pluripotent stem cells to understand the formation and differentiation of neural crest cells – an embryonic stem cell population that contributes to a wide range of derivatives throughout the human body. Dr. Charney received her Ph.D. from the University of California Irvine in 2016. She is the recipient of multiple early career awards from the National Institutes of Health, including a Ruth L. Kirschstein Individual Postdoctoral National Research Service Award and a Pathway to Independence Award, and was the recipient of a 2015 K. Patricia Cross Future Leaders award from the Association of American Colleges & Universities.
Kim Malloy The Importance of Directly Teaching Essential Skills in Context
Photo / Bio coming soon.
Cindy Dougherty The Importance of Directly Teaching Essential Skills in Context
Photo / Bio coming soon.