Authors and Reviewers

Dr. Thessa Hilgenkamp is an Associate Professor in the Department of Physical Therapy at the University of Nevada, Las Vegas, where she is also heading the Cardiovascular Research and Exercise Laboratory (CARE-Lab). Her research aims to better understand the physiological contributions to physical inactivity for individuals with Down syndrome. By understanding the cause of fatigue and exercise intolerance, we can better address their needs and support an active and healthy lifestyle. Thessa Hilgenkamp has published 91 peer-reviewed articles and has presented her work at national and international conferences in over 90 oral or poster presentations. She is Treasurer of the Trisomy 21 Research Society and Chair of the Lifestyle and Weight Management Team within the Down Syndrome Medical Interest Group USA, as well as being involved with our local community through DS Connections, GiGis Playhouse, and Special Olympics.

Tara Goodwin, DO, is a board-certified internist with broad experience in hospital medicine, emergency observation, senior care with a focus on dementia, and care for adults with Down syndrome. She received her medical degree from the University of North Texas Health Science Center and completed her residency at Methodist Hospital of Dallas. A mother of three, including a son with Down syndrome, Dr. Goodwin is deeply committed to advancing care for individuals with intellectual disabilities. She has served on the boards of the Down Syndrome Guild of Dallas and My Possibilities, and on the Special Education Parent Advisory Committee for Highland Park ISD. She is also a member of the Down Syndrome Medical Interest Group and the Global Down Syndrome Foundation.

As a pediatrician-trained clinical geneticist, Dr. Santoro has devoted her career to the health of individuals with Down syndrome through clinical care and research. She is the Director of Quality Improvement Research at the Massachusetts General Hospital Down Syndrome Program. She is an NIH-funded researcher developing a novel instrument to measure health in Down syndrome. She is a graduate of the University of Cincinnati, the University of Cincinnati College of Medicine, and completed residency at Cincinnati Children’s Hospital Medical Center. Dr. Santoro is an Associate Professor in Pediatrics at Harvard Medical School. Dr. Santoro serves on the Health Advisory Board of the Medical and Scientific Advisory Committee of the Massachusetts Down Syndrome Congress, the Board of Directors of the Down Syndrome Medical Interest Group (DSMIG-USA), and the Executive Committee of the American Academy of Pediatrics Council on Genetics.

After graduating from UHS/The Chicago Medical School in 1989, Dr. Gratigny completed a residency in Family Medicine in 1992. Following her training, she worked for the Advocate Medical Group Adult Down Syndrome Center from 1992 until 1998. After moving to Colorado, Dr. Gratigny helped establish the Denver Adult Down Syndrome Clinic in 1999 and served as the medical director until 2006. She has had a private family medicine practice since 1999 and cares for a number of adults with Down syndrome.

Shannon Frizzell completed her undergraduate degree in Public Health at Slippery Rock University before deciding to pursue her dream of becoming a registered dietitian. Shannon graduated from the University of Pittsburgh and completed her clinical training in dietetics at UPMC, where she further specialized in the care of people with disabilities through completing a Leadership Education in Developmental Disabilities and Related Disorders (LEND) traineeship. She currently works as the registered dietitian at the Down Syndrome Center of Western Pennsylvania, where she provides accessible and inclusive nutrition counseling to patients with Down syndrome of all ages. 

Seth M. Keller, MD, is a board-certified neurologist in private practice with Neurology Associates of South Jersey. He specializes in the evaluation and care of adults with Intellectual and Developmental Disabilities (IDD) with neurologic complications. Dr Keller is on the Executive Board of the Arc of Burlington County as well as on the board for The Arc of New Jersey Mainstreaming Medical Care Board.   Dr Keller is the Past President of the American Academy of Developmental Medicine and Dentistry (AADMD). Dr Keller is the co-president of the National Task Group on Intellectual Disabilities and Dementia Practices (NTG). Dr. Keller is also the founder and past chair of the Adult IDD Section with the American Academy of Neurology.  He is actively involved in national and international I/DD health education as a speaker and webinar and workshop participant. He is a co-author on a number of articles and book chapters relating to aging and dementia in those with IDD. Raised in Philadelphia, PA, Keller received his bachelor’s degree from Temple University, earned his medical degree from The George Washington University School of Medicine in 1989, and completed his neurology internship and residency at Bethesda Naval Hospital. He also served as a neurologist at the U.S. Naval Hospital in Okinawa, Japan.

Sarah Mann is a Doctor of Physical Therapy who works with Adolescents and Adults with Down syndrome. She received her DPT from the University of Colorado Anschutz Medical Campus. She has her undergraduate degrees in History, Political Science, and Chinese from the University of Colorado, Boulder. She has a Master’s degree in International Business from the University of Denver. Sarah is the clinic owner and director of Mann Method Therapy Network. She completed physical therapy training at the Sie Center for Down Syndrome at Children’s Hospital Colorado under the mentorship of Pat Winders, PT. Sarah specializes in working with teenagers and adults with Down syndrome. She is a national presenter for the National Down Syndrome Congress, Global Down Syndrome Foundation, GiGi’s Playhouse, and the Rocky Mountain Down Syndrome Association. Sarah is also a DSMIG Committee Member Lifestyle and Weight Management and Therapist Groups. Along with Dr. Jennifer Spiric, PT, DPT, Sarah co-created PT-based GiGiFIT fitness program for individuals with Ds across the lifespan offered worldwide through GiGi’s Playhouse. She has partnered with Dr. Thessa Hilgenkamp, PhD as part of ongoing research on the effects of exercise for adults with Down syndrome. Sarah is committed to safely and effectively improving participation, health, and fitness through exercise for individuals with Down syndrome.

Ruth Brown, PhD, is a Licensed Clinical Psychologist and an Assistant Professor at the Virginia Institute for Psychiatric and Behavioral Genetics at Virginia Commonwealth University. She has partnered with families and self-advocates with Down syndrome to conduct research on mental health since 2013. Her research is dedicated to improving the mental health care of people with Down syndrome and other intellectual and developmental disabilities. It is her hope that her research will lead to improved detection, prevention, and treatment of stress, anxiety, and depression in people with Down syndrome and intellectual and developmental disabilities.

Dr. Priya Chandan is a physician-scientist who engages in health services research to improve the quality of medical care for people with disabilities. She has been involved in health policy and advocacy efforts for over 15 years and has served in leadership positions in both academia and industry at national, state, and local levels. She is a clinical associate professor at the University of Louisville School of Medicine and is passionate about medical education. She serves as a mentor and a teacher to medical students and medical residents nationwide, across multiple medical specialties. For the last eight years, she has served as Project Director of NICHE-MED, an initiative that has activated close to 40 medical schools to develop and implement community-engaged medical education efforts that are co-created with disabled self-advocates. Dr. Chandan serves as a senior editor for PM&R, the official scientific journal of the American Academy of Physical Medicine and Rehabilitation, and has expertise in mixed methods, econometrics, and community-engaged research methods. She also currently serves on the Scientific and Clinical Advisory Board for the National Down Syndrome Society and the Board for Special Olympics Kentucky.

Dr. Bulova is a Professor of General Internal Medicine who runs the University of Pittsburgh Adult Down Syndrome Center and co-directs the Magee Center for Women with Physical and Intellectual Disabilities. He completed his undergraduate training at Brown University. His medical school, internal medicine residency, and chief residency took place at the University of Pittsburgh. He is a past president of the executive board of the Down Syndrome Medical Interest Group and speaks nationally on the care of adults with Down syndrome and care of adults with intellectual and developmental disabilities. He teaches medical students, residents and fellows at the University of Pittsburgh and was accepted into the University’s Academy of Distinguished Educators in 2009. He is clinically involved in research on Alzheimer’s disease in adults with Down syndrome and is an ad hoc reviewer for several journals, including The New England Journal of Medicine, the Journal of Intellectual Disability Research, and JAMA.

Nancy Taylor focuses her practice on health and FDA-related matters. She has broad experience working with providers, plans, employers, private equity firms, and FDA regulated companies. She advises clients on health care transactions, health and FDA regulatory, approvals, policy and compliance, and responding to Administration and Congressional investigations and audits. Prior to joining Greenberg Traurig, Nancy served 10 years as Health Policy Director for a Senate Committee and worked on a number of significant health and FDA laws. She also served as CEO of a start-up medical device company that was started by physicians at Johns Hopkins University, where she obtained eight product clearances, including securing reimbursement coverage for each product.

Moya Peterson is a clinical professor at the KU School of Nursing and the School of Medicine and teaches in the family nurse practitioner program. She also is a family nurse practitioner at the KU School of Medicine Department of Family & Community Medicine at the University of Kansas Medical Center. Peterson has worked as a staff nurse at Children’s Mercy Hospital & Clinics and the University of Iowa Hospitals and Clinics. Her clinical research interests are in primary care across the lifespan, the primary care of people with disabilities (physically and mentally), children and adults, and especially the primary care of adults with Down syndrome. She has established a clinic for adults with Down syndrome and currently has seen about 400 patients in that specialty clinic. It is the only one of its kind in the country, staffed and administrated by a nurse practitioner. It is also one of the only ones in the Midwest that offers care to adults with Down syndrome. Her other research interest is historical research in nursing. Her research up to this point is primarily about military nursing and KU’s deployment of the 77th Evacuation Hospital in WW2.

Peterson has had publications printed in national and state journals, and has presented at continuing education meetings on a variety of topics relevant to advanced practice nurses in the state of Kansas. She also was the only nurse to be invited to be on the committee of providers that developed the Global Down Syndrome Foundation’s Medical Care Guidelines for Adults with Down syndrome.

Dr. Peterson won the KU Chancellors award for Excellence in teaching in 2014, Modern Healthcare’s Lillian Carter’s Exemplary Acts of Nursing award in 2018, Ingram’s Heroes in Healthcare award in 2018 and the University of Kansas Medical Center’s Distinguished Nursing Alumni award in 2018.

Michele is a licensed clinical social worker serving clients across NC, SC, and FL. In 2020, she founded No Limits Counseling, a private practice dedicated to providing specialized mental health services for individuals with intellectual disabilities, particularly those with Down syndrome. With over 20 years of experience in the disability community, Michele offers a unique perspective on the mental health and relationship challenges often faced by individuals with intellectual disabilities. She provides counseling services to individuals with Down syndrome and offers relationship coaching to individuals, couples, and groups across all I/DD diagnoses. Michele is closely connected to the Down syndrome community, having spent many years in direct care roles both professionally and as a volunteer. She is an active member of the Down Syndrome Medical Interest Group (DSMIG) and has collaborated with Down syndrome experts nationwide to bring evidence-based practices and informed services to her clients. Her mission is to empower individuals with disabilities to live fulfilling, independent lives and to support them in navigating the complexities of mental health and relationships throughout their lifespan.

Mary Stephens, MD, MPH, FAAFP, FAADM, is a family physician and Professor of Family and Community Medicine at Jefferson. In 2015, she co-founded the Adult Down syndrome program at Christiana Care in Wilmington, DE, and continues to serve as the clinical leader. In 2018, Dr. Stephens returned to Jefferson to help launch a new primary care practice for teens and adults with complex childhood onset conditions, which has become the Jefferson FAB (For Adolescents and Beyond) Center for Complex Care. Dr. Stephens is on the Board of Directors of the Down Syndrome Medical Interest Group (DSMIG) and a member of the volunteer committee for the Global Down Syndrome Foundation’s adult healthcare guidelines. She has 25+ years of experience in clinical care teaching and is the mom of a teen with Down syndrome.

Lina Patel, PsyD, is an Associate Professor of Child and Adolescent Psychiatry at the University of Colorado School of Medicine, practicing at Children’s Hospital Colorado.  Dr. Patel is the Director of the Down Syndrome Behavioral Health Collaborative, a virtual clinic providing tele-behavioral health services to children, teens and young adults with Down syndrome. She provides consultation with schools, parent training regarding the management of challenging or unsafe behaviors, toilet training, and desensitization to medical devices (such as hearing aids and CPAP) and evaluation for dual diagnoses, including autism. She has worked with hundreds of individuals with Down syndrome. Outside of her clinical work, she conducts research as the Director of Neurodevelopmental, Behavioral and Cognitive Assessment at the Linda Crnic Institute for Down Syndrome. Additionally, she has presented to numerous organizations across the country and internationally and is the coauthor “Potty Time for Kids with Down Syndrome: Lose the Diapers, Not Your Patience”.

Dr. Wang is an Associate Professor in the Department of Family and Community Medicine at the University of Cincinnati and a Fellow of the American Academy of Developmental Medicine who is the Director of UC Health’s Timothy Freeman, MD, Center for Developmental Disabilities. Dr Wang spearheaded the creation of the Freeman Center in January 2022 in response to the significant health inequity both locally and nationally for adults with DD who have aged out of the pediatric health system. The Freeman Center’s mission is to advance healthcare for adults with DD by providing person-centered, coordinated, and interdisciplinary care, educating health professionals, and partnering with the community. The Freeman Center is developing a model that can be replicated at other academic health centers nationally to improve healthcare delivery and access for adults with DD. 

Dr. Wang is on the Board of Directors for the National Down Syndrome Society. She also served on the Board of Directors for the Down Syndrome Association of Greater Cincinnati for three years and is a member of their Health Advisory Board. She has presented locally and nationally on topics of transition from the pediatric to adult healthcare system, collaborative care models, and the Freeman Center. She lives in Cincinnati with her husband and three children.

Dr. Ptomey is an Associate Professor in the Department of Internal Medicine at the University of Kansas Medical Center and a Registered Dietitian specializing in weight management, physical activity, aging, and the health of individuals with intellectual and developmental disabilities (IDD). She serves as a thematic leader in disability-focused research at KUMC, holding key roles as the Director of the Brain Health in Down Syndrome Program at the KU Alzheimer’s Disease Research Center and the Associate Director of the Kansas Intellectual and Developmental Disabilities Research Center. Dr. Ptomey’s primary research centers on promoting weight management and physical activity in individuals with IDD, including Down syndrome. Recognizing the significant gaps in research on effective strategies for improving diet, physical activity, and weight management in this group, Dr. Ptomey has led groundbreaking studies, including the largest and longest weight management and physical activity trials for individuals with IDD. Her findings have shaped healthcare practices and influenced policy recommendations, advancing the health and quality of life for this vulnerable population.

Laura Cifra-Bean, MD, is a general pediatrician with over 25 years of experience in helping families. She earned her undergraduate and medical degrees from Case Western Reserve University and did her pediatric training at Rainbow Babies & Children’s Hospital. In 2022, she joined the Down Syndrome Association of Northeast Ohio as their Medical Outreach Director. She has presented workshops on Down syndrome at national and regional conferences. She is a past board member of the National Down Syndrome Congress and a current member of the Down Syndrome Medical Interest Group-USA. She has three children, including an adult son with Down syndrome.

Kristi L. Kirschner, MD, is a Clinical Professor in the Departments of Medical Education, Neurology & Rehabilitation, and Medicine (Academic Internal Medicine), and Director of Undergraduate Education in the Department of Medical Education. She is an Adjunct Professor, Department of Disability and Human Development within the College of Applied Health Sciences. Dr. Kirschner’s academic interests include health humanities and bioethics with a particular focus on disability issues and marginalized populations; the training of health care professionals about health humanities, bioethics and disability; and health care access for people with disabilities, including reproductive health services. She also is an adjunct faculty member in the Department of Disabilities and Human Development at UIC where she worked with Carol Gill, PhD, and Teresa Savage, PhD, RN, to create the Certificate in Disability Ethics in 2003.

She is a physician specializing in Physical Medicine and Rehabilitation with particular interest in the needs of patients with complex neurological disabilities, including adults with spina bifida, neuromuscular diseases, and cerebral palsy. She is a 1986 graduate of the University of Chicago Pritzker School of Medicine, and a fellow of the University of Chicago Maclean Center for Clinical Medical Ethics (1994-1995). She completed her residency in Physical Medicine and Rehabilitation in 1990 at the Rehabilitation Institute of Chicago and was an attending physician there until December of 2009. Concurrently, she was also on the faculty of the Northwestern University Feinberg School of Medicine in Medical Humanities and Bioethics, and PM&R. She was the founding director for the Donnelley Family Disability Ethics Program at the Rehabilitation Institute of Chicago, serving in this role from 1995-2009.  

From 2010-2019 she practiced at Schwab Rehabilitation Hospital on the westside of Chicago. Given her interests in health care access and social justice, she helped to create the Community Care Alliance of Illinois (CCAI) in 2012, a not-for-profit managed care plan serving seniors and adults with disabilities in Medicaid and Medicare Advantage. In 2019, she left her clinical practice at Schwab Rehabilitation Hospital to work on complex care and structural solutions in health reform. She is currently working with a team at UIHealth to build an interdisciplinary Lifespan Disability Clinic based in Academic Internal Medicine. Her current academic work is focused on disability ethics and the development and evaluation of health professional curriculum around disability, as well as to develop disability curriculum for health professional students and an interprofessional effort.

Katie Frank, PhD, OTR/L has worked as an occupational therapist at the Advocate Medical Group Adult Down Syndrome Center since 2016 and in the field of occupational therapy since 2001. She earned her degree in occupational therapy from Saint Louis University and her PhD in Disability Studies from the University of Illinois at Chicago. Most of her work has been with individuals with Down syndrome of all ages. Dr. Frank’s experience includes treatment and evaluation as well as facilitating groups for people with Down syndrome, conducting trainings for staff, families, and caregivers, and offering a variety of other educational opportunities across the United States. She is the immediate past President of DSMIG-USA.

Karin Roseman is a Licensed Clinical Social Worker with over a decade of experience working with children and adults with complex healthcare needs, Intellectual and Developmental disabilities. She is currently the Co-Director of the Jefferson FAB (For Adolescents and Beyond) Center for Complex Care in the Department of Family and Community Medicine at Jefferson Health in Philadelphia, PA. The FAB Center provides primary care to adolescents and adults with complex childhood onset conditions. Roseman helps to provide psychosocial education and support to patients and their caregivers, educate students from various disciplines on working with this complex population, support growth of the program through research and grants, and support the overall expansion and direction of the program.

Kara Thompson, DO, is board certified in Family Medicine after training at Mercy Mayo Family Medicine program and has a Diplomate in Obesity Medicine. Clinically, she had practiced Emergency Medicine and is currently practicing Obesity Medicine. She has served as an Associate Dean at Des Moines University College of Medicine. She is also mom to Jenny, who has Down syndrome.

Kandamurugu Manickam, MD, FACMG, is a clinical geneticist at Nationwide Children’s Hospital and a Professor of Clinical Medicine with a joint appointment at the Nisonger Center at The Ohio State University Medical Center. Dr. Manickam received his medical degree from the Royal College of Surgeons in Ireland, completed a residency in internal medicine-pediatrics at Case Western/MetroHealth Medical Center in Cleveland, and completed a fellowship in clinical genetics at the University of North Carolina, Chapel Hill. He also has a Master’s in Public Health from UNC with a focus on healthcare leadership and policy. He has a specific interest in the care of children and adults with Down Syndrome, having founded the Adult Down Syndrome Clinic through OSU in 2009. Additionally, he is a national expert on secondary findings from clinical testing and the clinical use of exome testing. Other areas of interest are the societal and ethical considerations of genetic testing and health disparities with genetics.

Dr. Santoro serves as the Director of Neuroimmunology and Demyelinating Disorders Program and Director of Research for the Neurologic Institute at Children’s Hospital Los Angeles. He is also an Associate Professor of Neurology and Pediatrics at the Keck School of Medicine at USC. Dr. Santoro completed his undergraduate, masters, and medical degrees at Tulane University. He completed residencies in pediatrics and child neurology at Stanford University which was followed by sub-specialty training in neuroimmunology at Harvard Medical School. Dr. Santoro is one of only a handful of national physician-scientists who treat neurologic disorders associated with Down syndrome. Dr. Santoro’s research focus is in identifying the mechanisms of neurologic disease in individuals with Down syndrome and unraveling the role of neuroinflammation in these disorders. His research in cerebrovascular disorders such as moyamoya vasculopathy and neuroinflammatory conditions such as Down Syndrome Regression Disorder in this population is internationally recognized, making Children’s Hospital Los Angeles and the Keck School of Medicine a hub for research in these areas. In addition to Dr. Santoro’s research in neuroinflammation in Down syndrome, he leads multiple national and international research investigations in other pediatric onset inflammatory disorders such as multiple sclerosis, myelin oligodendrocyte glycoprotein associated disease (MOGAD) and leukodystrophies such as Aicardi Goutières Syndrome. Dr. Santoro is a perpetual advocate for persons with disabilities at both the state and federal level through the American Medical Association and the American Academy of Neurology. 

Jason Woodward, MD, MS, is an Associate Professor of clinical pediatrics at the Indiana University School of Medicine. He is a Med-Peds physician and health services researcher in the Division of Developmental Medicine at Riley Hospital for Children at Indiana University Health. He is co-director of the Spina Bifida Clinic at Riley Hospital for Children and is a physician in the Center for Youth and Adults with Conditions of Childhood (CYACC) at Eskenazi Health. Dr. Woodward has over 17 years of experience providing clinical care and transition services to children, adolescents, and young adults with Down syndrome and other chronic conditions of childhood. His clinical care, program development work, and research focus on developing interventions to improve health outcomes and quality of life for youth with chronic conditions as they transition from pediatric to adult health care, with a particular focus on those with spina bifida, Down syndrome, and intellectual and developmental disabilities. Dr. Woodward is PI for the CDC’s National Spina Bifida Patient Registry at Cincinnati Children’s Hospital Medical Center, and, in collaboration with Northwell Health, he is site PI at Indiana University for a PCORI-funded study, Future Planning and Well-Being for Individuals with Intellectual Disabilities and Family Caregivers.

Jamie Edgin is a Developmental psychologist specializing in Intellectual and Developmental Disabilities, and she currently serves as the Chair of the Department of Psychology at Virginia Tech. Dr. Edgin’s recent work centers on the intersection of memory science, disability advocacy, and policy. Her expertise lies in cognitive development in typical and atypical development, with over 20 years of experience in designing and validating assessment strategies for children with intellectual and developmental disabilities. Her work has led to the publication of two assessments: the Arizona Test Battery for Down Syndrome and the Arizona Memory Assessment for Preschoolers and Special Populations (A-MAP). In recognition of her community outreach, she received the University of Arizona’s Koffler Prize for Outreach in 2018. Dr. Edgin’s policy interests have also earned her a Policy Fellowship from the Morris Udall Foundation, through which she studied nationwide policy regarding children’s eyewitness reports. Dr. Edgin’s recent research on sleep and memory has shown links between sleep problems and cognition in Down syndrome, providing the first empirical evidence suggesting that poor sleep may limit the ability of these individuals to learn, communicate, and remember words. In 2014, she was awarded a Bill and Melinda Gates Foundation Grand Challenges Explorations Grant to study sleep disturbances in at-risk infants. Since 2016, she has been continuously funded by federal agencies through both PI-led and collaborative grants. Dr. Edgin is a first-generation college student, born in the upper Appalachian Mountains in Pennsylvania.

Hannah Graham, MD, is a physician at the Advocate Medical Group Adult Down Syndrome Center in Park Ridge, IL. The Center serves people aged 12 and older with Down syndrome. Dr. Graham graduated from Loyola University Chicago Stritch School of Medicine. She completed her residency in Family Medicine at Advocate Aurora Lutheran General Hospital. Prior to working at the Adult Down Syndrome Center, Dr. Graham practiced general family medicine. Besides her work at the Adult Down Syndrome Center, she is currently a faculty member with the Family Medicine Residency Program at Advocate Lutheran General Hospital and the Assistant Education Director of Family Medicine at Rosalind Franklin University Chicago Medical School. She is also a mom to a young child with Down syndrome.

Since 1990, George Capone, MD, has been on the medical staff at the Kennedy Krieger Institute, where he serves as the Director of the Down Syndrome Clinic & Research Center. He is interested in a wide range of topics relevant to people with Down syndrome including healthcare, development-neurobehavior, mental health, Alzheimer’s disease, sleep, and medication trials in children and adults. He lives in Towson, Maryland with his wife Mary, son Daniel, and dog Katara. George Capone, MD, was born and raised in Connecticut. He received his medical degree from the University of Connecticut in 1983. He completed Pediatric Residency at Children’s Hospital in Cincinnati in 1986 and a clinical fellowship in Neurodevelopmental Pediatrics in Cincinnati in 1988. He then moved to Baltimore and completed a Research Fellowship in Neurobiology at Johns Hopkins School of Medicine in 1990. Since 1990, George Capone, MD, has been on the medical staff at the Kennedy Krieger Institute, where he serves as the Director of the Down Syndrome Clinic & Research Center. Dr. Capone has served on the Advisory Boards of National Down Syndrome Congress, National Down Syndrome Society, National Institutes of Health Down Syndrome Consortium, Down Syndrome International, and Down Syndrome Medical Interest Group-USA.

Dr. Combs is an Assistant Professor of Pediatrics and Medicine at the University of Arizona. He is board-certified in pediatrics and sleep medicine and additionally completed a fellowship through the Arizona Leadership Education in Neurodevelopmental Disabilities (AZLEND) program during his pediatrics training. He directs the pediatric sleep medicine program at Banner University Medical Center in Tucson, AZ. He is also the associate program director for the University of Arizona sleep medicine fellowship as well as assistant director of scholarly projects for the University of Arizona College of Medicine. Dr. Combs has received research support from the National Institutes of Health, American Heart Association and other foundations. His research is focused on the recognition and treatment of sleep disorders in children with special healthcare needs to improve the lives of children and their families. He is NIH and PCORI-funded research is particularly focused on development of new treatments for obstructive sleep apnea to improve cognition and quality of life for individuals with Down syndrome.

Dr. Cathy Franklin is Director of the Queensland Centre of Excellence in Intellectual Disability and Autism Health at Mater Hospital, Brisbane. A passionate advocate, her 2022 submission to the Queensland Parliament’s Mental Health Select Committee secured a $51.5M government investment to establish the Centre and 12 statewide mental health teams.

Over the past seven years, Cathy has led successful bids for more than $11M in competitive funding and helped secure $23.9M (2022–2026) through a UNSW-led consortium to establish the National Centre of Excellence in Intellectual Disability Health. She leads the co-designed EASY Health project ($3.2M), Australia’s first online clinical education featuring actors with disabilities—now mandated in Medicare Urgent Care Clinics and used across Queensland Health.

Cathy is Chief Investigator on the NHMRC-funded Bridge to Better Health project ($1.4M), enhancing primary care for people with intellectual disability. As a psychiatrist and researcher, she specialises in Down syndrome regression disorder and mental health, building the capacity of the workforce. She is a founding member of DSMIG-AUS and co-leads workgroups in DSMIG-USA. Cathy regularly publishes, develops patient resources, and presents internationally on Down syndrome mental health. Her contributions have been recognised with the Mater Research Sister Regis Dunne Award for Outstanding Contribution to Research Relative to Opportunity (2020) and the Women in Technology ‘Lifting Communities’ Award (2025).

Barry Martin, MD, is an Associate Professor of Clinical Practice in the Division of Internal Medicine with the Colorado School of Medicine. He has more than 30 years of experience providing primary care and consultations for adults with Down syndrome. He was the Medical Director of the Denver Adult Down Syndrome clinic from 2007 – 2016 and has been the Consultant to the Global Adult Down Syndrome Clinic at Denver Health 2018 to present. Dr. Martin was one of the co-authors of the Global Medical Care Guidelines for Adults with Down Syndrome. He collaborates with the Linda Crnic Institute on research concerning Down syndrome. He is a long-time member of the Down Syndrome Medical Interest Group – USA.

Dr. Anna Marie White is an Assistant Professor of Medicine in the Department of Family and Community Medicine at the University of Pittsburgh School of Medicine. She provides primary care to adults and children in Squirrel Hill and is one of two doctors at the Adult Down Syndrome Center of Western Pennsylvania, where she offers specialized care for adults with Down syndrome. Dr. White has dedicated over 15 years to street medicine, beginning her journey as a medical student with Operation Safety Net, where she completed a rotation under the mentorship of Dr. Jim Withers. She serves as the Medical Director of Street Medicine at Pitt, an innovative, student-led interdisciplinary team providing care to individuals experiencing homelessness, and is the founding Director of the Center for Street Medicine, which leads efforts to improve health outcomes and access to care for this population. Dr. White is also an active researcher, focusing on dementia in Down syndrome, mindfulness, and homelessness, addressing critical gaps in understanding and care for these populations.  She also is an active member of the Down Syndrome Medical Interest Group, serving on the social media/marketing and membership committees and the Adult Working Group.

A proud Pitt alumnus, Dr. White earned her undergraduate degree in English Writing, completed her medical degree, and trained in Internal Medicine-Pediatrics residency—all at the University of Pittsburgh. Outside of her professional roles, she is a devoted mom to two boys. In her free time, she enjoys hiking, creating travel itineraries, attending her kids’ sports events and working on getting her dad’s 1954 Chevy pickup truck running again. Dr. White is deeply committed to clinical excellence, innovative research, and community-centered care.

Abby Rowley, LCSW, completed her bachelor’s degree in Rehabilitation and Disability Studies, and her Master of Social Work degree from the University of Illinois at Urbana-Champaign. She is a licensed clinical social worker who previously worked as a case manager in a residential community for children and adults with intellectual and developmental disabilities, as well as in the school system as a social worker. She most recently worked at the Advocate Medical Group Adult Down Syndrome Center in Park Ridge, Illinois, as the clinical therapist.

Brian Chicoine, MD, is the medical director of the Advocate Medical Group Adult Down Syndrome Center in Park Ridge, Illinois. He is on the faculty of the Family Medicine residency at Advocate Lutheran General Hospital. He received his medical degree from Loyola University of Chicago Stritch School of Medicine and completed his Family Medicine residency at Lutheran General Hospital. In 1992, Dr. Chicoine co-founded the Adult Down Syndrome Center, which has served and documented the health and psychosocial needs of over 6000 adolescents and adults with Down syndrome since its inception. Dr. Chicoine has provided medical care for adults with intellectual disabilities for over 35 years and has presented and written extensively on caring for adults with Down syndrome.