2nd
International
Symposium on
APS Type 1
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WITH SPECIAL THANKS FOR THE GENEROUS SUPPORT OF
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Dr. Asim Ali
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Dr. Asim Ali is a Staff Ophthalmologist at the Hospital for Sick Children and Associate Professor at the University of Toronto. He completed his medical degree and residency training in Ophthalmology at the University of Toronto. He then went on to further postgraduate training with separate fellowships in Pediatric Ophthalmology and Strabismus, and Cornea and External Disease at Washington University, St. Louis, Missouri. Since returning to Canada, his practice and clinical research have focused on cornea/external disease disorders and glaucoma in children, as well as pediatric cataract and other anterior segment abnormalities.
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Dr. Mark Anderson
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Mark Anderson, M.D., Ph.D. is a Professor in the UCSF Diabetes Center and a recognized expert in the genetic underpinnings of autoimmune diseases and the control of immune tolerance. He received his doctorate in immunology in 1992 and his medical degree in 1994 from the University of Chicago. He completed a residency and Chief Residency in Internal Medicine at the University of Minnesota and went on to complete an Adult Endocrinology Fellowship at the Massachusetts General Hospital and Harvard Medical School. While at Harvard, Dr. Anderson developed a novel genetic mouse model of a human autoimmune disorder called Autoimmune Polyglandular Syndrome Type 1 (APS1) that involves a deficiency in the Autoimmune Regulator (Aire) gene. Through his work, we have come to appreciate that Aire is a major checkpoint of immune tolerance in the thymus and his lab continues to further unravel mechanisms by which this pathway operates. Dr. Anderson has won several important awards including election to The Pew Scholars Program, The American Society of Clinical Investigation, The American Association of Physicians, and The UCSF Byers Award. Mark currently holds the Robert B. Friend and Michelle M. Friend Endowed Chair in Diabetes Research and also serves as Director of UCSF Medical Scientist (MD/PhD) Training Program, Research Director of the UCSF Diabetes Center, and also as Co-Chair of the Steering Committee of the UCSF Immunology Program.
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Dr. Richard J. Auchus
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Dr. Auchus is Professor of Pharmacology and Internal Medicine in the Division of Metabolism, Endocrinology, and Diabetes at the University of Michigan and Director of the Diabetes, Endocrinology, & Metabolism Fellowship Program at Michigan. He received his S.B. in Chemistry from Massachusetts Institute of Technology and his medical degree and Ph.D. in Pharmacology from Washington University. He completed training in Internal Medicine at the University of Iowa Hospitals and Clinics and a fellowship in Endocrinology at the Wilford Hall USAF Hospital and the University of Texas Health Sciences Center in San Antonio. He did postdoctoral work at the University of California, San Francisco, prior to joining the faculty at UT Southwestern in Dallas. He served as Acting Chief of the Divisions of Endocrinology and Translational Research at UT Southwestern before his relocation to Michigan in 2011.
Dr. Richard J. Auchus, continued
Dr. Auchus and his group are active in research projects ranging from basic chemical principles of steroid biosynthetic enzymes and steroid mass spectrometry to clinical and translational investigation in disorders of the pituitary, adrenal, ovaries, and testes that cause hypertension, infertility, and obesity. His clinical interests also focus on pituitary, adrenal, and reproductive diseases that involve disorders of steroid production, and he is particularly interested in the care of adults with genetic disorders of steroid biosynthesis and action. He has authored over 230 journal articles and 30 book chapters, and he has presented at a diverse range of national and international conferences.
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Dr. Anupama Chawla
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Dr. Chawla is Director of Pediatric Gastroenterology and Nutrition at Stony Brook University Hospital in New York. Dr. Chawla graduated from Lady Harding Medical School in New Delhi, India. She completed her post-graduate study in Pediatrics in England earning her Diploma in Child Health from the Royal College of Physicians, Glasgow, UK. She then did her residency in Pediatrics at Stony Brook University Hospital, and her fellowship in Pediatric Gastroenterology at North Shore University Hospital, New York. Dr. Chawla is presently board certified in Pediatrics and Pediatric Gastroenterology and is a Certified Nutrition Support Physician. Dr. Chawla is dedicated to promoting Children's Gastrointestinal Health and Nutrition. Dr. Chawla and her division are also actively involved in clinical research involving varying aspects of children's gastrointestinal health. Dr. Chawla has authored several journal articles and chapters in the field of Pediatric Gastroenterology and Nutrition.
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Dr. Cheri Deal
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Dr. Deal obtained her PhD (Experimental Medicine), funded by the Medical Research Council of Canada (CIHR), at McGill University, followed by her MD degree at the University of Montreal. She is Canadian and American board certified in Pediatrics (CHU Sainte-Justine/Montreal Children's Hospital) and in Pediatric Endocrinology. She obtained a Medical Research Council Scholarship to pursue a research fellowship in the laboratory of Dr. Ron Rosenfeld at Stanford University in Pediatric Endocrinology from 1989 through 1991. Dr. Deal has been on staff with the Endocrine Service at CHU Sainte-Justine since 1992, and is tenured Full Professor with the Department of Pediatrics at the University of Montreal as well as an Associate Member of the Faculty of Medicine (Division of Experimental Medicine) of McGill University. Her administrative experience includes the position of past President of the Canadian Pediatric Endocrinology Group (1999-2001), President of the Canadian Society of Endocrinology and Metabolism (2009 – 2011) as well as a member and secretary of the Board of Directors of the Fonds de la recherche en santé du Québec (FRSQ) (1999- 2006). She has served as site leader for the Canadian Institutes of Health Research (C.I.H.R.) Canadian Clinical Scientist Training Program in Pediatrics, and is currently Program Director for Pediatric Endocrinology and Metabolism at the University of Montreal.
Her major research interest is in the contribution of the growth hormone-insulin-like growth factor (GH-IGF) axis to the regulation of human growth. One of her laboratory focuses has been the genetic and epigenetic regulation of IGF2. She received support from the Canadian Breast Cancer Research Initiative to study the role of IGF2 and its receptor in breast cancer. Her secondary field of focus concerns the regulation of various other members of the GH-IGF axis in post-natal life, their role in carcinogenesis, within the context of pre-pubertal obesity, and as a target for clinical intervention in children with Turner Syndrome. Dr. Deal has a strong commitment to patient-driven research, and has helped to elucidate the molecular defects associated with a wide range of rare pediatric endocrine disorders including Type 1 polyglandular autoimmune syndrome (APECED) and congenital hypopituitarism, as well as participated in clinical studies aimed at ameliorating outcomes in a variety of pediatric endocrine diseases such as congential hypothyroidism, precocious puberty, Prader-Willi syndrome and Turner syndrome. She has over 100 publications.
Mr. Brian Dwyer
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Brian Dwyer holds a Masters of Education in Teaching and Learning from SUNY Empire State College. Brian holds Biology, Earth Science and Education 7-12 undergraduate degrees from Roberts Wesleyan College. He holds a professional certification from New York State in Earth Science and General Science and has been teaching for 14 years in both an urban and rural setting. Brian has a daughter with APS Type 1/APECED who has transitioned from an IEP to a 504.
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Ms. Robin Finch
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Robin Finch is a member of the board of The APS Type 1 Foundation and the mother of nine year old, Samantha, who has APS Type 1/APECED. Along with her family, Robin just organized her second annual foundation fundraiser called “Slam Dunks for Sam.” Robin is spearheading the foundation’s efforts to launch a web-based natural history study with hopes of advancing to a bio-bank in the future. She is also a full-time practicing real estate lawyer at Greenberg Glusker in Century City, California, with a B.A. in Political Science from UC San Diego and a J.D. from UC Davis.
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Dr. Adrian Hayday
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Adrian Hayday trained as a biochemist, undertook PhD studies in tumour virology, and then pursued post-doctoral training at the Massachusetts Institute of Technology where he characterised chromosome translocation breakpoints in human B cell lymphomas, and contributed to the identification of the hitherto unanticipated gamma delta T cell compartment by being the first to describe the T cell receptor gamma chain genes. In recent years, his group has developed a strong programme in human immunology, including clinical trials applying gamma delta T cells in immunotherapy. Amongst many honours, he became in 1997 the first biologist to win Yale College's most prestigious prize for scholarship, the William Clyde DeVane Medal.
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Dr. Christina Hertel
Christina Hertel is a project manager at ImmunoQure AG, a company focusing on the discovery of patient-selected autoantibodies in APS Type 1/APECED patients for the treatment of human diseases. She holds a PhD in molecular biology from the Ludwig-Maximillian University of Munich, Germany, and performed her postdoctoral studies at University of Lausanne, Switzerland, before joining HS Lifesciences as a Scientific Associate where she was involved in the foundation of ImmunoQure.
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Dr. Eystein Husebye
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Eystein Husebye is professor and consultant in endocrinology at The University of Bergen and Haukeland University Hospital in Bergen, Norway. He did his endocrine training at Uppsala University Hospital and started work in the field of autoimmune polyendocrine syndromes in the laboratory of Olle Kämpe at Uppsala University 1993-1996. Husebye then moved back to Bergen and started his own research group. He has participated in and coordinated several EU-projects and is currently running a national registry and biobank on Addison’s disease and APS Type 1/APECED.
Dr. Olle Kämpe
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Olle Kämpe is a professor and senior consultant in endocrinology at the Karolinska Institutet in Stockholm Sweden. He holds the Torsten and Ragnar Söderberg endowment chair in clinical endocrinology since 2014 and was before that professor at Uppsala University. He is a fellow of the Royal Swedish Academy of Sciences (www.kva.se/en) and has participated in several EU-projects of which he coordinated one, EurAPS, dealing with APS Type 1/APECED. He has identified a number of the autoantibodies in clinical use for Addison’s disease and APS Type 1/APECED and is also responsible for national registries and biobanks for these disorders.
Dr. Andrew Lane
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Dr. Andrew Lane graduated from the University of Connecticut School of Medicine. He completed his residency in pediatrics at Strong Memorial Hospital in Rochester New York, and completed a fellowship in pediatric endocrinology at Massachusetts General Hospital in Boston. He is currently Director of the Pediatric Endocrinology Fellowship Program and Professor of Clinical Pediatrics in the Division of Pediatric Endocrinology, Department of Pediatrics, Stony Brook University School of Medicine.
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Dr. Michail S. Lionakis
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Dr. Lionakis is Chief of the Fungal Pathogenesis Unit, Laboratory of Clinical Infectious Diseases, NIAID, NIH. He is a physician-scientist who obtained his M.D. and Sc.D. from the University of Crete in Greece. He did his clinical training in Internal Medicine and Infectious Diseases and research training in Mycology and Immunology at MD Anderson Cancer Center, Baylor College of Medicine, and NIH. In 2012, Dr. Lionakis was recruited as a tenure-track investigator at NIH where his laboratory research focuses on understanding antifungal immunity in patients and mouse models. Since 2013, as part of his laboratory’s clinical research program, Dr. Lionakis has recruited more than 75 patients with APS Type 1/APECED at the NIH via his IRB-approved clinical research protocol. This program is aimed at better understanding the mechanisms of autoimmunity and fungal susceptibility with a goal to develop improved diagnostic, preventive and therapeutic strategies for APS Type 1/APECED patients.
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Ms. Sue Livingstone
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Sue Livingstone has a degree in Sociology from the American University. She worked for several years with the YMCA and then returned to school to obtain a master’s degree in Elementary Education from Maryville University. Sue has been a 2nd grade teacher for the past 11 years, taking off 5 years to raise her children. Sue serves on the Patient Family Centered Care Team for St. Louis Children’s Hospital. Sue lives in St. Louis with her husband Paul and daughters, Molly (APS Type 1) and Caroline.
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Dr. Louise Markert
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Dr. Markert is currently investigating thymus transplantation in complete DiGeorge syndrome. Complete DiGeorge syndrome is a fatal genetic disorder in which patients have heart defects, severe parathyroid hypoplasia and absence of the thymus. In a research protocol, complete DiGeorge patients who have no T cells are transplanted with postnatal cultured human thymic epithelial tissue. The transplants are later biopsied to evaluate whether host stem cells have migrated to the transplanted tissue and developed into T cells. Seventy-nine infants with complete DiGeorge anomaly have been transplanted and 56 survive (71%). Her research to date has shown that the patient can develop new recipient T cells in the graft and normal T cell proliferative responses to mitogens and antigens. Thus, in infants born with no T cells because of DiGeorge syndrome, cultured donor postnatal thymic tissue is sufficient for the development of recipient T cells from recipient stem cells. Dr. Markert is now studying patients previously transplanted to learn how long the thymus functions and why the T cell numbers in her post-thymus transplantation patients remain low for age - similar to the T cell numbers in patients with partial DiGeorge anomaly who do not need thymus transplantation. In 2012, Dr. Markert began studies in an animal model to use thymus transplantation to induce tolerance to solid organ transplants. This work was funded by The Hartwell Foundation and is continuing under internal funding.
Ms. Jennifer Orange
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Jennifer Orange is the mother of a fabulous girl with APS Type 1/APECED and a member of the board of The APS Type 1 Foundation. Jennifer is a lawyer and doctoral candidate at the Faculty of Law at the University of Toronto specializing in human rights. She holds a B.A. from the University of Pennsylvania, an LL.B. from the University of Toronto and an LL.M. from New York University. She has sat on the Board of Patients Canada and was Chair of the Board of the Gerstein Centre, a mental health crisis centre. She is the founder of DotFriday, a software tool that helps people manage chronic illness at home and a frequent speaker on the patient and family perspective of APS Type 1/APECED and rare diseases. Jennifer was the Co-Director of the First International Symposium on APS Type 1 held in Toronto in 2015.
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Dr. Audrey Parent
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Dr. Parent is a Professor in the UCSF Diabetes Center. Her research is focused on understanding the role of the thymus in the development of autoimmune diseases. To study the development and function of the human thymus, her team has established a novel model based on the differentiation of human pluripotent stem cells into thymic epithelial cells. Combined with recent advances in genetic engineering tools like the CRISPR/Cas9 technology, our ability to generate a thymus in vitro will allow us to better understand how specific genes affect thymic function and also open up the possibility of restoring function in patients by correcting disease-causing mutations.
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Mr. Pablo Ramirez Uribe
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Pablo Ramirez Uribe is an APS Type 1/APECED patient, born in Colombia and having lived in Venezuela, the U.S., and a study abroad semester in Oxford University. Having recently completed his BA in Integrative Studies with a minor in Social Justice, Pablo is hoping to pursue a double masters in English Secondary Education and Social Justice & Human Rights. Even with APS Type 1/APECED (and perhaps because of it), Pablo has been part of high school and college Speech and Student Government, continuing to write and pursue a hobby with LEGO. He cannot wait to meet other members of our unique family, and to strengthen the bonds and support available to all.
Dr. William Robinson
Dr. Robinson is an associate professor at Stanford University. His research focuses on elucidating the molecular mechanisms underlying rheumatoid arthritis, osteoarthritis, and other immune diseases. To investigate the role of B cells and their antibodies in RA and other human diseases, his laboratory pioneered the development of protein arrays, lipid arrays, and approaches to perform large-scale sequencing of antibody and T cell repertoires. His ultimate goal is to convert discoveries made at the bench into diagnostics and therapeutics that can be used in patient care.
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Dr. Suneeta Senapati
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Dr. Senapati is an Assistant Professor at the University of Pennsylvania Perelman School of Medicine and practices Reproductive Endocrinology and Infertility at Penn Fertility Care. She received her medical degree from The Ohio State University College of Medicine and Public Health. She completed residency in Obstetrics and Gynecology at the University of Michigan, as well as fellowship in Reproductive Endocrinology & Infertility and a Masters in Clinical Epidemiology and Biostatistics at the University of Pennsylvania. She is a member of the American Society for Reproductive Medicine and American Congress of Obstetricians and Gynecologists. She is Women’s Reproductive Health Research Scholar through the National Institutes of Health and an active clinical investigator with clinical and research expertise in assisted reproductive technology outcomes, epigenetics, endometriosis, fibroids, and fertility preservation.
Mr. David Seyfert
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David Seyfert has a master’s degree in Special Education from Adelphi University and a master’s degree in Orientation and Mobility from Boston College. He studied to become a vision teacher at Hunter College and completed coursework necessary to work with students who are deaf or hard of hearing. He holds professional certifications from New York State in preschool education, elementary education, secondary education, English, Special Education, and Blind and Visually Impaired. He has been a vision teacher for 34 years and an orientation and mobility instructor for 30 years. He has also worked for The South Country School District for the past 29 years. David has an amazing teenage son with APS Type 1/APECED who currently has a 504 plan.
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Mr. Todd Talarico
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Todd and Heather’s daughter, Gaby, was born January 1995. After 10 years of misdiagnoses, she was diagnosed with APS Type 1 in 2006. In December of that year, the Talarico’s launched a website designed to educate others about APS Type 1. In 2007, the Talarico’s established the APS Type 1 Restricted Research Grant with the National Organization for Rare Disorders (NORD). The goal of this research grant is to find a cure for APS Type 1. Since 2007, they’ve raised over $400,000 to support critical research for this disorder. Finally…after three long years working with the Seyfert Family…in March of 2014, they successfully received approval from the federal government to establish a 501(c)(3), nonprofit organization…The APS Type 1 Foundation. The foundation focuses on three core areas, namely, awareness, education, and fund raising to ultimately find a cure for APS Type 1/APECED.
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Ms. Nancy Wilson
Nancy Wilson was recently appointed Executive Director of Special Education at Western Suffolk BOCES.which provides services to 18 districts on Long Island that educate over 83,000 students. Previously she had been the Director of Student Support Services and Special Education services for the Huntington Union free school district since 2012. She served as this district's Assistant Director of Special Education and Student Support Services from 2005 until 2012. Nancy also taught 7th and 8th grade special education students for eight years. She received her School Administrator and Supervisor (SAS) and School District Administrator (SDA) certificates from The College of Saint Rose, and her Master of Science in Special Education from Long Island University/C.W. Post. She is listed in Who’s Who Among America’s Teachers and is a member of Phi Delta Kappa International.
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Dr. Justine D. Witzke
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Justine D. Witzke, Ph.D., serves as Operations Administrator at The Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine (CRM) of Weill Cornell Medical College. She is a 2006 graduate of the University of Florida, where she received her Bachelors of Science degree in Zoology. She went on to complete her Masters in Public Health at Hunter College followed by her Ph.D. in Clinical and Translational Research from the Icahn School of Medicine at Mount Sinai in 2016. Fertility preservation is one of Justine's primary areas of interest. Having established and implemented CRM's care coordination approach for fertility preservation services in 2012, Justine remains intimately involved with the fertility preservation program management and expansion and equally committed to research in the field of fertility preservation and reproductive medicine.
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