Grounding Autism in the Basic Biomedical Sciences
The Nancy Lurie Marks Family Foundation (NLMFF) seeks to enhance the lives of individuals with autism by funding basic biomedical research, providing resources for advocacy and policy groups, and making available social services for families. We believe that access to improved medical diagnosis and treatment and to better means of communication is the surest path for autistic individuals to find increased enjoyment in social and family life, obtain meaningful employment, and discover ways of independent living and creative expression. Achieving these goals means that autism must be approached from a fundamental scientific perspective.
It is only when autism comes to be understood and defined in terms of off-kilter physiological systems and circuits, and not just their surface manifestations, such as self-injurious behaviors, seizures, tics, aggression, and frustratingly futile attempts at speech, that stigmatization and isolation will end. We believe that a proper description of autism will set the stage for powerful new technologies to be brought to bear on the difficult problems these children and adults face. Medical history has shown repeatedly that basic knowledge leads to practical invention, often in completely unexpected ways, but for this to happen in the case of autism the challenge needs to be expressed in terms of targetable physiological or molecular systems and processes, not just behaviors, failures to communicate, or socially awkward habits.
The principal goal of the scientific program at the NLMFF is to contribute to this deeper understanding of the biological basis of autism. The astonishing discoveries of the past several years in neuroscience allowing, for example, the electrical properties of individual neurons to be manipulated in living animals, enabling signaling properties of genotype matched cells to be grown in culture, or revealing the subtle correlations in frequency coupling across brain regions as new tasks are learned, place demands on our scientific imaginations to probe the nature of autism more deeply than what appears on the surface in the form of behaviors.
Science is a conversation, across generations and disciplines, and for too long autism research has been isolated. To help bring autism into the conversation of modern neuroscience, NLMFF conducts small workshops to which leading scientists, not necessarily in autism research, are invited to share their insights with clinicians and researchers in the field. These meetings help catalyze new synergies of research, forge promising new collaborative networks, and serve as an impetus for scientists outside of autism and young scientists to enter into autism research.
The NLM Family Foundation funds multi-investigator program projects across institutions, RO1-type grants to individual investigators, career development awards to tenured track junior faculty, and targeted postdoctoral fellowships. Much of our funding at NLMFF is focused on genetics, synaptic chemistry, systems biology and the physiology of movement, all with the aim of exploiting the new insights of neuroscience to discover how behavior is organized, coordinated, and controlled in the human body, and how language is learned and speech produced. The scientific study of communication modalities, hand, eye, and ear, with the goal of producing new and useful devices and strategies for social and intellectual engagement, is essential for developing support systems that could enhance the quality of life for many autistic children and adults by alleviating a principal source of distress. Autism is the ‘Rosetta Stone of human neurobiology’, presenting rich opportunities to study the neurobiology of speech, brain rhythmicity, and emotion, and explore the nature and potential of human thought and creativity as it evolves on a different, but no less endowed, developmental trajectory. For more information about autism research grants, please visit our Grant Categories page.
Lurie Center for Autism
Nancy Lurie Marks and the Nancy Lurie Marks Family Foundation established in 2009 the Lurie Center for Autism, an integrated and multidisciplinary clinical, research, training and advocacy program dedicated to treating individuals with autism spectrum disorders and other developmental disorders across the lifespan. In addition to clinical care, cutting-edge translational research and advocacy, the Center is committed to providing training and clinical experience for a new generation of medical doctors to meet the comprehensive needs of those with autism.
Persons with autism, like the rest of us, face new and different medical challenges as they age. Little is known about what health concerns might be unique to this population. Large clinics devoted to serving this population are needed. To address these and many other questions, the Lurie Center maintains comprehensive longitudinal biomedical databases, integrating clinical and research observations, enabling qualified researchers to assemble voluntary research cohorts with informed consent. Inherent in these databases may be patterns and subgroupings that will spark physician-researchers, collaborating with bioinformatics specialists, to form new hypotheses and generate new ideas for treatments. Through referrals to specialists at the major clinical departments at MGH, as well as collaborations with basic scientists at the Martinos Center for Biomedical Imaging and the Center for Human Genetics Research, the Lurie Center is in position to ground the study of autism in one of the most advanced biomedical treatment centers in the world.
Medical Training in Autism
If the field of autism is to be transformed by the discoveries of biomedical science in pediatrics, neurology, and psychiatry, in addition to the basic sciences of genetics, physiology, and structural biology, training in autism must become integrated into the curricula of medical schools. Physicians specializing in autism are in precious short supply. To help meet this need, and increase awareness of the difficulties autistic individuals may face in clinical care, The Nancy Lurie Marks Clinical and Research Fellowship Program in Autism was established to support Harvard Medical School faculty and students interested in autism and related neurological disorders. Participants were selected from all levels of the training program: medical students staying on for a fifth year, advanced postdoctoral scientists seeking clinical collaborations, and doctors who had completed their residency and were undertaking specialty fellowship training.
Also in partnership with Harvard Medical School, the NLM Family Foundation is developing a Targeted Education for Autism Management across Medical Specialties (TEAMMS) project aimed at meeting unmet educational needs for clinicians and patients and their families. The goal is to enlist leading autism experts from the Harvard Medical School faculty to evaluate available resources and understand gaps focused on improving physician competency across all medical specialties in providing competent and coordinated care. The aim will be to develop innovative material that addresses these unmet needs. This project has the potential to be a highly effective means of increasing widespread competency across medical specialties throughout the nation and beyond.
Translational Research
Growing the capacity of hospitals and clinics to diagnose and treat autistic individuals will create an opportunity to offer new therapies based on the discoveries in the basic biomedical sciences. Translational research will be accelerated by the emergence of a strong group of physicians and medical professionals who have embraced the care of individuals with autism as its primary mission. This transformation of the medical system to care for autistic individuals on their own terms will require research based not just on molecular approaches but encompassing new technologies such as miniaturized electronic devices that can detect and modulate intrinsic electrical signaling in the nervous system. Similarly artificial intelligence offers the promise of collecting information on the experiences of thousands of individuals across numerous clinical settings to enable the detection of patterns that even a doctor with a lifetime of experience may not discover. It is known from data collected on many individuals with autism that seizures occur for about 30% of them. An “aura” often precedes by several minutes the occurrence of a seizure. These observations coupled with the emerging technology of wearable sensors and the widespread availability of mobile technology has resulted in widely available seizure detection devices that afford a level of physical safety for individuals who cannot communicate the first signs of a seizure. These three examples are indicators of how translational research will impact lives of autistic individuals.
Through a grant to Thomas Jefferson University, the Foundation is supporting five research projects designed to advance understanding and treatment of sensory features in Autism Spectrum Disorders. Sensory features of ASD are defined as hypo and hyper reactivity to touch, sounds, tastes, smells, vision, and body sensations; unusual interests in the sensory features of objects and the environment; and differences in integration of two or more sensations (also known as multisensory integration). These are now included as a diagnostic feature of ASD and, as such, the impact of sensory features on the development and expression of ASD has emerged as an important area of research. This project brings together a highly accomplished group of researchers and clinician-scientists from multiple institutions and from varied disciplines (including child neurology, ophthalmology, neuroimaging, developmental psychology, occupational therapy and neuroscience) who have expertise in various areas of sensory functions in autism. As such, this unique and collaborative approach serves to advance the knowledge base of sensory functions in ASD beyond what could be accomplished individually. Together these groups are exploring sensory functions in ASD across the lifespan and across sensory systems with the unifying theme of understanding the sensory contributions to ASD. An important component of this grant is “team science” which leverages the strengths and expertise of professionals trained in different fields. Their team science approach emphasizes the importance of translating research findings into testable interventions to alleviate sensory differences and improve functional skills including communication, social interactions and daily living skills in ASD.
The pace of discovery in autism research now matches that in many other areas of clinical neuroscience, including schizophrenia, addiction, Alzheimer’s disease, and depression. In some cases, such as the convergence onto common synaptic mechanisms involved in learning and habit formation, the large number of implicated genes has, remarkably, led to simplifying and testable hypotheses at the systems level. The Nancy Lurie Marks Family Foundation encourages scientists, young and old, basic and applied, to take up the challenge of understanding autism and, in the process, discover how molecules, cells, and circuits give rise to learning, memory, and human communication.