Professor of Medicine, University of Pittsburgh Medical Center

Peter Bulova ha completato la sua formazione universitaria alla Brown University. Ha completato la specializzazione e la specializzazione principale e ha conseguito la laurea in medicina presso l'Università di Pittsburgh. È professore di Medicina Interna Generale e insegna a studenti di medicina, specializzandi e borsisti presso l'Università di Pittsburgh. Il dottor Bulova è attualmente impegnato nella ricerca sulla malattia di Alzheimer negli adulti con sindrome di Down, fa parte del comitato di revisione dei dati del registro nazionale sulla sindrome di Down dell'NIH ed è revisore ad hoc per diverse riviste, tra cui il Journal of Intellectual Disability Research e l'American Journal on Intellectual and Developmental Disabilities. Il dottor Bulova fa anche parte del comitato esecutivo del Gruppo di interesse medico sulla sindrome di Down e parla a livello nazionale della cura degli adulti con sindrome di Down.

Director, Down Syndrome Clinic & Research Center, Kennedy Krieger Institute, Associate Professor of Pediatrics, Johns Hopkins School of Medicine

Dal 1990, il dottor Capone lavora presso il Kennedy Krieger Institute, dove attualmente ricopre il ruolo di direttore della clinica e del centro di ricerca sulla sindrome di Down. Si interessa di un'ampia gamma di argomenti rilevanti per le persone con sindrome di Down, tra cui l'assistenza sanitaria, lo sviluppo neurocomportamentale, la salute mentale e la sperimentazione di farmaci per il sonno nei bambini e negli adulti. Il dottor Capone vive a Towson, nel Maryland, con la moglie Mary e il figlio Daniel.

Medical Director, Advocate Medical Group Adult Down Syndrome Center

Brian Chicoine, M.D. is the co-founder and Medical Director of the Advocate Medical Group Adult Down Syndrome Center in Park Ridge, Illinois. The Center has served over 6000 adolescents and adults with Down syndrome since its inception in 1992. Dr. Chicoine graduated from Loyola University of Chicago Stritch School of Medicine. He completed his Family Medicine residency at Lutheran General Hospital where he is now a faculty member. He has published many articles regarding health of people with Down syndrome. He has co-authored two books “Mental Wellness of Adults with Down Syndrome,” and “The Guide to Good Health for Teens and Adults with Down Syndrome” published by Woodbine House Publishing.

Executive Director, Linda Crnic Institute for Down Syndrome

Dr. Joaquín Espinosa is the Executive Director for Science at the Linda Crnic Institute for Down Syndrome. He is also a Professor in the Department of Pharmacology at the University of Colorado School of Medicine, the Director of the Human Trisome Project, the founding Director of the Functional Genomics Facility at the University of Colorado, and Leader of the Administrative and Outreach Core of the INCLUDE Project Data Coordinating Center.

Vice President of Adult Initiatives and Special Projects, Global Down Syndrome Foundation

Bryn Gelaro joined the GLOBAL team in 2015 as a consultant and is currently the Vice President of Adult Initiatives and Special Projects. She is a Licensed Social Worker with a background in behavioral health for adults with adults with Down syndrome. Her work includes furthering GLOBAL’s adult care initiatives, serving as an executive committee member and co-author of GLOBAL’s Medical Care Guidelines for Adults with Down syndrome, and managing the development and operations of GLOBAL’s efforts to open a World Class Medical Clinic for adults with Down syndrome. In addition, her role oversees many of GLOBAL’s exciting international projects, including work with Albania, Uganda, and Iceland. Bryn has spoken to parents, educators, and medical professionals at conferences across the nation, including the National Down Syndrome Congress, the Down Syndrome Medical Interest Group, and the Down Syndrome Affiliates in Action. She coauthored research on Down syndrome in Uganda and was a contributor to the Prenatal Testing and Information about Down Syndrome Pamphlet (2nd Ed). Bryn earned her Bachelors of Science in Psychology from the Pennsylvania State University in 2012 and holds a Masters in social work from the University of Chicago’s School of Social Service and Administration in 2015. She completed her Master’s graduate field training at the Adult Down Syndrome Clinic in Chicago, where she facilitated social skills groups, completed assessments, conducted therapy, and occasionally tried to keep up in Zumba class with teens and adults with Down syndrome.

Professor of Pathology and Laboratory Services, and Internal Medicine, Department of Pathology and Laboratory Services, and Department of Internal Medicine, Division of Hematology, University of Arkansas for Medical Sciences

Terry Harville earned a PhD in Biochemistry and Molecular Biology, before earning his MD at the University of Florida. He completed a residency in Pediatrics and Fellowship in Pediatric Immunology, Rheumatology, and Transplantation Biology; also at the University of Florida. Dr. Harville joined the faculty of Duke University, where he pioneered hematopoietic transplantation in patients with rare forms of Combined Immunodeficiencies. Subsequently, he joined the faculty of Arkansas Children’s Hospital and the University of Arkansas for Medical Sciences, as Director of Pediatric Rheumatology and Immunodeficiencies. He was asked to take over the Directorship of the Transplantation Laboratories in order to provide better transplantation services in the state of Arkansas. Dr. Harville has more than 160 published abstracts, book chapters, and peer-reviewed manuscripts. Autism Spectrum of Disorders and other diseases of Neuro-atypicality, including Down syndrome, have been amongst his research and clinical care emphases. He also is considered an expert in the diagnosis of immunodeficiency disorders and autoimmune disorders, including celiac disease.

Surgical Director, Complex Obstructive Sleep Apnea Center; Assistant Professor, UC Department of Otolaryngology, Head and Neck Surgery

Sono un otorinolaringoiatra pediatrico. Sono specializzato nell'assistenza ai bambini affetti da disturbi del sonno e dalla sindrome di Down. Per me è importante essere in sintonia con i genitori. Lavoro sodo, a fianco delle famiglie, per ottenere le cure migliori e più complete per i miei pazienti. Mi concentro sul bambino nel suo complesso e aiuto le famiglie a ottenere un'assistenza completa. La mia formazione sul sonno mi permette di valutare e gestire condizioni del sonno che vanno oltre l'apnea ostruttiva del sonno. Mi piace occuparmi di popolazioni speciali e ho concentrato la mia ricerca sui bambini con sindrome di Down. L'otorinolaringoiatria pediatrica mi si addice perché posso avere un impatto significativo con piccoli interventi che migliorano la qualità della vita di un bambino. Lavoro per comprendere l'apnea ostruttiva del sonno e altri disturbi del sonno nei bambini con sindrome di Down. Studio anche i problemi dell'orecchio e le disfunzioni della deglutizione. Il mio team studia la gestione chirurgica dell'apnea ostruttiva del sonno persistente dopo la rimozione di adenoidi e tonsille. Ho ricevuto il premio 2018 Otolaryngology Top Research Publication per il Cincinnati Children's Hospital Medical Center.

Professor of Ophthalmology, University of Pittsburgh School of Medicine

Il dottor Vishal Jhanji è professore di oftalmologia presso la University of Pittsburgh School of Medicine. È uno specialista della cornea e uno scienziato clinico di formazione. Il dottor Jhanji ha completato la sua formazione in oftalmologia presso il prestigioso All India Institute of Medical Sciences di Nuova Delhi, in India, e la sua borsa di studio presso il Royal Victorian Eye and Ear Hospital dell'Università di Melbourne, in Australia. Ha lavorato come professore associato presso il Dipartimento di oftalmologia e scienze visive dell'Università cinese di Hong Kong. Nel 2017, il Dr. Jhanji è entrato a far parte del corpo docente della University of Pittsburgh School of Medicine.

Associate Professor of Clinical Practice, Division of General Internal Medicine, University of Colorado School of Medicine, Anschutz Medical Center

Barry Martin è professore assistente di medicina interna generale presso la University of Colorado School of Medicine, dove assiste i pazienti per le cure primarie e per le consulenze. È abilitato alla professione di medico di famiglia e ha più di 20 anni di esperienza nell'assistenza sanitaria primaria agli adulti con disabilità, in particolare con disabilità dello sviluppo e sindrome di Down. È stato direttore medico della precedente clinica per adulti con sindrome di Down di Denver. Attualmente è il direttore medico della clinica pilota sulla sindrome di Down per adulti di Denver Health e GLOBAL. Il dottor Martin è membro del Congresso nazionale sulla sindrome di Down e del Gruppo di interesse medico sulla sindrome di Down.

Primario di oftalmologia pediatrica; vicepreside di oftalmologia pediatrica; cattedra della famiglia Ponzio per l'oftalmologia pediatrica.

La dottoressa McCourt si è laureata alla State University of New York Medical School nel 2007. Emily McCourt è primario di oftalmologia pediatrica, vicepresidente di oftalmologia pediatrica e titolare della cattedra di oftalmologia pediatrica della famiglia Ponzio. Nel 2017, 2018, 2019, 2020 e 2021 la dottoressa McCourt ha ricevuto il premio Patient Family Experience Excellence in Patient Care presso il Children's Hospital Colorado.

Professore associato, Dipartimento di Psichiatria; Direttore della Collaborazione per la salute comportamentale della sindrome di Down

La dott.ssa Lina Patel è professore associato di psichiatria infantile e dell'adolescenza presso la University of Colorado School of Medicine e lavora al Children's Hospital Colorado. È direttrice della Down Syndrome Behavioral Health Collaborative, una clinica virtuale che fornisce servizi di salute comportamentale a distanza a bambini, adolescenti e giovani adulti con sindrome di Down. Fornisce consulenze alle scuole, formazione ai genitori sulla gestione di comportamenti difficili o pericolosi, educazione alla toilette, desensibilizzazione a dispositivi medici (come apparecchi acustici e CPAP) e supporto alla salute mentale. Ha lavorato con centinaia di persone con sindrome di Down. Al di fuori del suo lavoro clinico, conduce ricerche come direttrice della valutazione del neurosviluppo, del comportamento e della cognitività presso il Linda Crnic Institute for Down Syndrome. Inoltre, ha presentato a numerose organizzazioni in tutto il Paese e a livello internazionale ed è coautrice di "Potty Time for Kids with Down Syndrome: Perdere i pannolini, non la pazienza".

Clinical Professor, University of Kansas Medical Center, Schools of Nursing and Medicine

Moya Peterson è professore clinico presso il Centro Medico dell'Università del Kansas, nelle Scuole di Infermieristica e Medicina del Dipartimento di Medicina di Famiglia e di Comunità. Ha fondato e gestisce la clinica specialistica per adulti con sindrome di Down. Insegna anche nel programma di specializzazione della scuola di infermieristica e gran parte del suo insegnamento è incentrato sulle persone con disabilità e in particolare sugli adulti con sindrome di Down. La dott.ssa Peterson ha completato il suo dottorato di ricerca nel 2006 con una tesi sugli adulti con sindrome di Down e sulle preoccupazioni delle loro famiglie riguardo ai problemi di salute in età adulta. È stata la scintilla che ha fatto nascere la clinica quando ha scoperto che nel Midwest non esistevano fornitori di assistenza sanitaria specifici per gli adulti con sindrome di Down.

Assistant Professor, University of Colorado, Anschutz Medical Campus, School of Medicine, Ophthalmology; Director of Medical Student Education, School of Medicine, Ophthalmology

Il dottor Michael Puente è professore assistente di oftalmologia presso l'Università del Colorado. Si è laureato al Baylor College of Medicine nel 2015. Mentre completava il programma di specializzazione a Tulane, ha ricevuto il premio per la più straordinaria presentazione di ricerca tra i residenti. I suoi interessi di ricerca includono la cataratta pediatrica, la sindrome di Down, le disparità sanitarie in età pediatrica, l'assistenza oculistica per gli adulti con disabilità intellettive e di sviluppo e le questioni LGBT in oftalmologia.

Professor of Clinical Neurology; Medical Director of the Alzheimer’s Therapeutic Research Institute

Michael S. Rafii is Professor of Clinical Neurology at the Keck School of Medicine and Medical Director of the Alzheimer’s Therapeutic Research Institute (ATRI). He received his MD and PhD degrees from Brown University and conducted neurogenetics research at Harvard Medical School. Dr. Rafii is a physician-scientist whose research focuses on developing treatments for Alzheimer’s disease (AD) including a genetic form of AD that occurs in people with Down syndrome (DS). He is Principal Investigator of the NIH-funded Alzheimer’s Clinical Trials Consortium - Down Syndrome (ACTC-DS), an international network of over 20 expert sites. Dr. Rafii also serves as director of the Medical Safety Unit of the Alzheimer’s Clinical Trials Consortium (ACTC) and co-director of the Clinical core of the Alzheimer’s Disease Neuroimaging Initiative (ADNI). He provides safety oversight to ATRI’s entire portfolio of clinical trials. He is a scientific reviewer for the NIH and the Alzheimer's Association. His work has been featured in the New York Times, Chicago Tribune, Washington Post, Wall Street Journal and National Public Radio (NPR).

Professor, Family Medicine and Community Health, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University School of Medicine; Director of Developmental Disabilities – Practice-Based Research Network

Carl V. Tyler Jr. is a clinician-researcher and professor at the Cleveland Clinic. His life work has been devoted to improving the health and health care of persons with developmental disabilities through clinical care, research, and professional and community education. His clinical training in psychiatry, family medicine, and geriatric medicine provided a rich clinical foundation and framework to understand the difficulties and complexities in providing health care to this population. Following medical school and residency training, Dr. Tyler completed two academic fellowships at Case Western Reserve University; the first focused on aging and disability while the second was a 3-year NIH-sponsored fellowship in practice-based research design and methodology. Dr. Tyler is also the Director of the Developmental Disabilities-Practice-Based Research Network.

Anna Marie White, MD, è certificata in medicina interna e pediatria dall'American Board of Internal Medicine. È affiliata con UPMC Children's Hospital of Pittsburgh, UPMC Presbyterian e UPMC Shadyside. Ha conseguito la laurea in medicina e la specializzazione presso la University of Pittsburgh School of Medicine. I suoi interessi di ricerca includono la medicina di strada, la demenza nella sindrome di Down e la mindfulness e il dolore lombare.

Dr. Thessa Hilgenkamp earned her bachelor’s and master’s in Human Movement Sciences from the University of Groningen in the Netherlands during 2005. She completed her Ph.D. at the Erasmus MC University Medical Center Rotterdam in the Netherlands during 2012, focused on physical activity and fitness among older adults with intellectual disabilities. She is intrigued by the impact cardiovascular physiological challenges have on the ability to exercise and live an active life, especially among individuals with intellectual disabilities and Down syndrome. She received a Marie Curie Sklodowska Postdoctoral Fellowship of the European Union during 2014 to investigate the topic. The fellowship enabled her to complete a postdoc at the University of Illinois at Chicago, where she was mentored by Dr. Bo Fernhall in the Integrative Physiology Laboratory. During 2017, she received an NIH K99/R00 Career Development Award focused on the regulation of blood flow among individuals with Down syndrome. She joined the UNLV department of Physical Therapy during summer 2019.

President & CEO, Global Down Syndrome Foundation

Michelle Sie Whitten is the Co-Founder, President & CEO of the Global Down Syndrome Foundation. GLOBAL is dedicated to significantly improving the lives of people with Down syndrome through Research, Medical Care, Education and Advocacy. As a direct result of Michelle & GLOBAL’s impactful government advocacy, NIH budget for Down syndrome has gone from one of the least funded to quadrupling in the last four years. In addition, Michelle served as a co-author and architect of the 2020 GLOBAL Guideline as published in JAMA. She has been recognized for her dedication to improving the lives of people with Down syndrome over the past decade, including: 17 ICON Awards, Denver Business Journal's Most Admired CEO, 2 National Down Syndrome Congress President’s Awards, Arc Thrift Stores’ inaugural Distinguished Disability Leadership Award and NewsED Civil Rights Award.

Prior to her career in the non-profit sector, Michelle was a cable TV pioneer in East Asia working for Liberty Media Corporation and Starz Encore. For her work during that time, she received the 40 Under 40 Achievement Award, the Real Women: Outstanding Entrepreneur Award and the Women in Cable & Telecommunications Walk of Fame Award. Her academic career was focused on international security and diplomacy and she holds a Masters degree and business certificate from Harvard University. She graduated Magna Cum Laude with a Bachelors degree from Tufts University and studied Mandarin Chinese and Women Studies at Peking University. Michelle is married to Tom, a British curator of Chinese contemporary art and they have two children, Sophia, who happens to have Down syndrome and Patrick, who is typical.