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47 mins
ILP Video

From Genomics to Therapeutics: Uncovering and manipulating the genetic circuits underlying GWAS and cancer

Manolis Kellis
Associate Professor of Computer Science
Associate Member, Broad Institute
Head, MIT Computational Biology Group (CSAIL)
MIT Department of Electrical Engineering and Computer Science
Perhaps the greatest surprise of human genetic studies is that 90% of disease regions do not affect proteins directly, but instead the circuits that control our genes. This has increased the urgency of mapping the regulatory genome, as a key component for understanding human disease. To address this challenge, we generated maps of genomic control elements across 127 primary human tissues and cell types, and tissue-specific regulatory networks linking these elements to their target genes and their regulators, and we used these maps and circuits to understand how human genetic variation contributes to disease and cancer. The results provide the first unbiased view of disease genetics, sometimes re-shaping our understanding of common disorders. For example, we find that genetic variants contributing to Alzheimer?s disease act primarily through immune processes, rather than neuronal processes, reshaping our therapeutic approaches. We also find that the strongest genetic association with obesity acts via a master switch controlling energy storage vs. energy dissipation in human fat cells, rather than through the control of appetite in the brain. We showed that we can manipulate these circuits by genome editing or gene targeting in human cells and in mice, opening up tissue-autonomous therapeutic avenues against obesity. Lastly, we use our maps and circuits to discover new disease genes in cardiovascular disorders, type 1 diabetes, and prostate cancer, illustrating the power and broad applicability of regulatory annotations and circuits for understanding human disease.
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42 mins
ILP Video

Quantitative Human Phenotyping: The Next Frontier in Medicine

Dennis A. Ausiello
Jackson Professor of Clinical Medicine, Harvard Medical School
Chief of Medicine, Massachusetts General Hospital (MGH)
Despite the potential of mobile health monitoring and applications, healthcare remains episodic and reactive. Transforming medical practice today requires a fundamental shift towards quantifying disease and wellness in a continuous manner through the course of daily life. A renewed focus on quantitative human measurements, or phenotypes, will empower individual patients, improve biomedical discovery, and reveal new approaches to diagnosis, prevention, and treatment. This is the next great biomedical frontier, analogous to the Human Genome Project in its scope and its profound implications for medicine.
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42 mins
ILP Video

Surprise Health Findings from a Smartwatch

Rosalind Picard
Director, Affective Computing Research
Co-director, Advancing Wellbeing Initiative
Professor of Media Arts and Sciences
MIT Media Lab
This talk will highlight several surprising findings we discovered from wearable sensing of autonomic stress data and physical activity in daily life. For example, we learned that sensing from the surface of the wrist can tell us more about certain neurological events ? such as memory consolidation during sleep ? than can the EEG. We have also created a wrist-worn seizure detector. Lately, we have demonstrated new analytics that adapt the motion sensors in common consumer devices to also provide measures of heart-rate and respiration. I?ll share a variety of stories of how wearables are leading to new health insights.
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36 mins
ILP Video

More is Not Better: Designing optimal data systems for healthcare

Leo Celi
Research Scientist
MIT Institute for Medical Engineering and Science
With the vast accumulation of digital medical information, the challenge is transforming copious data into useful medical knowledge. How can we find what?s most important, and how can increasing amounts of data be incorporated into a system of already overburdened clinicians? We must design better data systems to support and improve data integration to enable the holistic use of massive data sources (vital signs, clinical notes, laboratory results, treatments including medications and procedures) to forge new perspectives on challenging problems.
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45 mins
ILP Video

Ultrasound Imaging and the MEDRC

Brian Anthony
Principal Research Scientist
Director, Master of Engineering in Manufacturing Program
Co-Director, Medical Electronic Device Realization Center (MEDRC)
Deputy Director, MIT Skoltech Initiative
The Medical Electronic Device Realization Center (MEDRC) aims to transform the medical electronic device industry, collaborating with academic and corporate partners to achieve improvements in the cost and performance of medical electronic devices similar to those that have occurred in consumer electronics. Recent significant advances in computational power allow ultrasound tomography to be realized economically. Additionally, new ultrasound systems enable volumetric pulse echo or transmission imaging of distal limbs, for applications including characterizing muscle health, improving prosthetic fittings, and bone health.
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