Dr. Lai graduated with honors from the University of Pennsylvania School of Medicine and is board certified in Neurology and Psychiatry with special qualifications in Child Neurology. She trained in Pediatrics at the Albert Einstein Hospital/Jacobi Medical Center and finished a Child Neurology residency at Boston University/Boston City Hospital. She served as medical director of the Fernald Medical program of the Eunice Kennedy Shriver Center where she headed a teaching program in developmental disabilities for Neurology and Pediatrics residents and was honored with a teaching award. It was at EKS that she developed her keen interest in adults with Down syndrome and published a large prospective study of Alzheimer disease in Down syndrome in 1989, considered a “seminal” paper.

Dr. Lai founded the Aging and Developmental Disabilities Clinic at McLean/Massachusetts General Hospitals in 1994, devoted mainly to adults with Down syndrome who have an especially high risk for Alzheimer disease, and has personally evaluated and followed more than 750 patients. She was chosen to pilot an APOE genotyping study in adults with Down syndrome and published its results.

In addition to consulting on several federal studies on Down syndrome, Dr. Lai was the site PI for the first clinical trial in adults with Down syndrome using Vitamin E as a potential treatment for Alzheimer disease, and recruited over 70 participants of a total 350 among 24 sites. She is completing five years as the MGH site PI of the NIH study “Biomarkers of Alzheimer Disease in Adults with Down syndrome” and is active on the Clinical and Neuropathology cores. Dr. Lai also continues her pediatric neurology role in leading the MGH Learning Disorders Clinic devoted to children and young adults with learning disabilities and ADHD and derives great pleasure in their academic successes.

Dr. Krinsky-McHale has been a research psychologist with the New York State Institute for Basic Research in Developmental Disabilities since 1995, and is the head of the Laboratory of Cognition and Development. She conducts research on cognitive functioning and developmental processes in adults with Down syndrome and in individuals with other forms of intellectual disability (e.g., Williams syndrome). Her laboratory is also examining the neuropsychiatric symptoms that are associated with mild cognitive impairment/Alzheimer’s disease and how these change during disease progression. Dr. Krinsky-McHale has unique expertise in the areas of cognition, visual perception and neuropsychiatric symptomatology, and have been at the forefront of research focused on recognition of the earliest indicators of dementia in adults with Down syndrome.

Dr. Fortea combines his research and clinical activities at the Hospital of Sant Pau in Barcelona and the Catalan Foundation for Down Syndrome in Barcelona, Spain. He is the founder and director of the Down Syndrome Unit. This unit runs a pioneering population based health plan for adults with Down syndrome in Catalonia. This program is the foundation for the Down Alzheimer Barcelona Neuroimaging Initiative (DABNI), the largest single center cohort with multimodal biomarker studies to study Alzheimer´s disease pathophysiology in Down syndrome.

Dr. Fortea has extensive experience in clinical practice and in medical research, with a focus on the early diagnosis of neurodegenerative diseases, Alzheimer’s disease and Down syndrome-related Alzheimer’s disease. His expertise is recognized internationally, and is an active participant of the NIA-N Study section, National Institutes of Health (US), the International Scientific Committee of the Jerome Lejeune Foundation (France), as well as at the Clinical Research Committee from the Trisomy 21 Research Society and the Down Syndrome Professional Interest Area, Alzheimer’s Association (US).

Dr. Strydom’s research focuses on mental disorders in adults with neurodevelopmental conditions, including Down syndrome and other genetic disorders.

Dr. Strydom is particularly interested in ageing-related conditions such as dementia in adults with Intellectual Disability and Down syndrome. He is the chief investigator of the LonDownS consortium which consists of several research groups from prominent London universities (KCL, UCL, QMUoL, Birkbeck and the Crick Institute) collaborating on various aspects of Alzheimer’s disease in Down syndrome. One of the important aims of the consortium is to deliver the knowledge, tools and expertise that is necessary to enable clinical trials of treatment to prevent or delay the onset of dementia in individuals with Down syndrome.

He is also involved in developing and evaluating complex interventions in adults with intellectual disabilities such as positive behavior support for challenging behavior, and cognitive behavior therapy for depression, as well as RCTs of medication treatments to reduce morbidity associated with intellectual disabilities.

Dr. Zaman is a consultant psychiatrist working with adults with intellectual disability in Cambridgeshire, a neuroscientist, and an associate lecturer at the University of Cambridge. He is part of the Cambridge Intellectual Disability Research Group at the Department of Psychiatry. He undertook higher training in medicine and psychiatry and was awarded a PhD in molecular neurobiology. He was a post-doctoral Wellcome Trust International Travelling Fellow at the Cold Spring Harbor Laboratory, New York. His research work focuses on the role of amyloid, tau, inflammation, and mitochondrial dysfunction in the genesis of cognitive impairment and dementia in people with Down Syndrome. He is part of the ABC-DS (Alzheimer’s disease Biomarker Consortium-Down Syndrome), which aims to understand the natural history of dementia in Down syndrome with the aim of designing clinical trials for preventive treatment. He is interested in understanding the neuronal mechanisms that underlie deficits in learning and memory in people with intellectual disabilities and exploring ways of ameliorating or treating these.

For the past 25 years, Dr. Espinosa has investigated novel mechanisms of gene expression control and molecular signaling in human health and disease, making significant contributions to the fields of parasitology, cancer biology, hypoxic signaling, and most recently, trisomy 21. In 2013, he received pilot funding from the Crnic Institute to apply his expertise in functional genomics to the study of Down syndrome. These activities led to the discovery that interferon signaling is consistently activated in multiple cell types with trisomy 21. Follow up studies demonstrated changes in the proteome, metabolome and immune cell repertoire indicative of interferon hyperactivity and increased JAK/STAT signaling in living individuals with Down syndrome. Altogether, these results support the hypothesis that interferon hyperactivity drives many of the developmental and clinical hallmarks of Down syndrome. Furthermore, Dr. Espinosa’s team recently reported the therapeutic benefits of JAK inhibition for autoimmune skin disease in Down syndrome, leading to the recent approval and funding through the INCLUDE Project of the first clinical trial for JAK inhibition in Down syndrome. Given the established role of neuroinflammation in Alzheimer’s disease, including demonstrated roles for interferon signaling in Alzheimer’s disease progression in animal models, this work could be of key relevance to the ACTC-DS mission.

At the Crnic Institute, Dr. Espinosa leads a dynamic and multidisciplinary research portfolio involving over 50 research teams across 25 departments at the University of Colorado. In 2016, Dr. Espinosa launched the Crnic Institute’s Human Trisome Project (HTP, www.trisome.org), a deep pan-omics cohort study of people with Down syndrome. The HTP was envisioned as a discovery accelerator for the field, pairing the generation of pan-omics datasets with deep clinical phenotyping on 1000+ individuals with trisomy 21, and making the data publicly accessible via a user-friendly online platform. In just three years, the HTP biobank has samples from >1500 participants, generated diverse multi-omics datasets, and created the first-ever online platform to explore the impact of trisomy 21 on these multidimensional datasets, called the TrisomExplorer: www.trisome.org/explorer. This project will be a great resource for the ACTC-DS both in terms of recruitment and multi-omics characterization.