Neurosciences

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Bryan J. Traynor , M.D., Ph.D., Chief

The Neuromuscular Diseases Research Section investigates the causes and biology of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Our focus is on turning discoveries into better diagnosis and faster development of treatments. We combine large-scale human genetics with detailed molecular profiling to understand disease processes, improve patient grouping, and create biomarkers and outcome tools for clinical trials.

Huaibin Cai , Ph.D., Chief

Our research focuses on elucidating the circuit- and cell-type–specific mechanisms that drive age-related neurodegenerative disorders, with a primary focus on Parkinson’s disease (PD). PD is a rapidly growing neurodegenerative condition that disproportionately affects older adults and manifests not only with progressive motor impairments but also with debilitating non-motor symptoms — such as depression, chronic pain, cognitive decline, and dementia — that remain inadequately treated.

Dimitrios Kapogiannis , Principal Investigator

Dan Benjamini, Ph.D ., Chief

The Multiscale Imaging and Integrative Biophysics (MiiB) Unit is dedicated to exploring associations between cognitive function, brain microstructure, and chemistry to deepen our understanding of brain aging and Alzheimer’s disease (AD). Our overarching goal is to map aging progression and its relationship with neurodegenerative diseases by developing and deploying innovative MRI techniques that can "drill down into the voxel," allowing for noninvasive characterization of cellular-level features.

Mark R. Cookson , Ph.D., Chief

Parkinson's disease is one of the major age-related neurodegenerative disorders and is characterized by the progressive loss of neurons over time. Some of the major symptoms of Parkinson's relate to the ability of the patient to initiate or stop movement and these symptoms are related to loss of neurons that express the neurotransmitter dopamine in a region of the brain called the substantia nigra, although other brain regions are also affected throughout the disease progression.

Neurodegenerative diseases currently afflict over 7 million people in the United States alone. This number is projected to rise to 19 million by the year 2050. By the time neurodegenerative diseases are diagnosed, a large percentage of neurons has already been lost, thus in order to better treat these devastating illnesses we first need to elucidate the biology underlying disease initiation and progression.

Proper brain function requires a balance between excitatory projection neurons and GABAergic inhibitory interneurons. Interneurons are an extremely heterogeneous cell population with distinct morphologies, connectivity, neurochemical markers, electrophysiological properties and transcriptomes. Abnormal development and function of interneurons has been linked to the pathobiology of numerous neurodevelopmental disorders such as epilepsy, schizophrenia and autism. Many genes implicated in these diseases are enriched in interneuron precursors.

The Section on Molecular Dysmorphology studies the molecular, biochemical, and cellular processes that underlie genetic disorders resulting from impaired cholesterol homeostasis and lysosomal dysfunction. Inborn errors of cholesterol synthesis, such as Smith-Lemli-Opitz syndrome (SLOS), result in congenital malformation/cognitive impairment disorders. Lysosomal diseases such as Niemann-Pick disease, type C (NPC) and CLN3 disease (Juvenile Batten disease) result in progressive neurodegeneration.