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Toward a genetic theory of childhood infectious diseases

January 8, 2014
Jean-Laurant Casanova, M.D., Ph.D., The Rockefeller University

The hypothesis that inborn errors of immunity underlie infectious diseases is gaining experimental support. However, the apparent modes of inheritance of predisposition or resistance differ considerably among diseases and among studies. A coherent genetic architecture of infectious diseases is lacking.

Skin stem cells in homeostasis, wound-repair and cancer

January 15, 2014
Elaine Fuchs, Ph.D., The Rockefeller University

Typically, the genetic cause of a disease is identified by studying the DNA of affected individuals, finding the responsible gene, and trying to understand how a mutated version might have coded for a defective protein that led to the disease. Dr. Fuchs, however, has pioneered “reverse genetics”: She starts with the protein abnormality and works backwards to identify the human disease. She has applied this strategy to elucidate the genetic basis of a number of blistering skin disorders and tumors.

Biomaterials and biotechnology: from the discovery of angiogenesis inhibitors to the development of drug delivery systems and the foundation of tissue engineering

January 29, 2014
Robert S. Langer, Sc.D., Massachusetts Institute of Technology

Advanced drug delivery systems are having an enormous impact on human health. Dr. Langer will begin the lecture by discussing his early research on developing the first controlled release systems for macromolecules and the isolation of angiogenesis inhibitors, noting how these advances have led to numerous new therapies. For example, new drug delivery technologies including nanoparticles and nanotechnology are now being studied for use treating cancer and other illnesses. Dr.

The broad impact of NLRs on immunity and beyond

February 5, 2014
Jenny P-Y Ting, Ph.D., University of North Carolina at Chapel Hill

The innate immune system is governed by a variety of receptors or sensors that detect microbial pathogens and activate specific signaling pathways. More important, these receptors/sensors also have a great impact on the basic biologic processes that affect cancer, metabolic disorders, inflammation, neurologic disorders, and other diseases. The Ting group first reported on the large human NLR gene family, which comprises regulators of innate immunity and exhibits important regulatory roles in immunity and beyond.

Congenital heart disease: many genes lead to a broken heart

February 12, 2014
Christine M. Seidman, M.D., Harvard Medical School and Brigham and Women’s Hospital

The innate immune system is governed by a variety of receptors or sensors that detect microbial pathogens and activate specific signaling pathways. More important, these receptors/sensors also have a great impact on the basic biologic processes that affect cancer, metabolic disorders, inflammation, neurologic disorders, and other diseases. The Ting group first reported on the large human NLR gene family, which comprises regulators of innate immunity and exhibits important regulatory roles in immunity and beyond.

Induced pluripotent stem cells and the impact of genomic variation on psychiatric disorders

February 19, 2014
Flora M. Vaccarino, M.D., Yale University

It has been difficult to establish a link between mutations in the human genome and common disorders of complex etiology. By allowing the direct study of gene expression and function as neural cells divide and differentiate, the induced pluripotent stem cell (iPSC) model promises to bridge the gap between genomic variation and its effects on neuronal circuitry and function. The genome of iPSCs is relatively stable, but reflects the genomic mosaicism (genomic variation in the cells of a single individual) present in the somatic cells of origin. Dr.

Giant chromosomes and deep sequences: what the frog egg tells us about RNA transcription

February 26, 2014
Joseph G. Gall, Ph.D., Carnegie Institution for Science

The eggs of frogs and salamanders contain exceptionally large chromosomes, known since the 19th century as “lampbrush” chromosomes because of their unusual fuzzy appearance under the microscope. The many “bristles” on these chromosomes are actually loops composed of one or a few actively transcribing genes. These genes synthesize RNA at rates much higher than in typical somatic cells, making it possible to study RNA synthesis in exquisite detail by immunofluorescent staining and in situ hybridization.

Structural and mechanistic diversity of ABC transporters

March 5, 2014
Douglas C. Rees, Ph.D., California Institute of Technology

ATP Binding Cassette (ABC) transporters constitute a ubiquitous superfamily of integral membrane proteins responsible for the ATP-powered membrane translocation of a wide variety of substrates. The highly conserved ABC domains defining the superfamily provide the nucleotide-powered engine that drives transport. In contrast, the transmembrane domains creating the translocation pathway are more variable, with three distinct folds currently recognized.

Epigenetic regulation of senescence and aging

March 12, 2014
Shelley L. Berger, Ph.D., University of Pennsylvania Perelman School of Medicine

Aging is a crucial risk factor in a constellation of human diseases, including cancer and neurodegenerative diseases. Along with other risk factors such as environmental exposures, diet, behavior, and heredity, these risks can be understood through their impact on the epigenetic landscape in ways that ultimately lead to the burden of disease. Among these risks, aging had been regarded as fixed, but current thinking holds that aging is plastic and its pace can be slowed or even reversed. Dr.

Did you remember to take out the trash? Your cells sure did!

March 19, 2014
Ana Maria Cuervo, M.D., Ph.D., The Institute of Aging Research, Albert Einstein College of Medicine

Autophagy is an essential catabolic cellular process that assures the maintenance of the cellular energetic balance as wells as an efficient removal of any intracellular damaged structure. In this talk, Dr. Cuervo will focus on selective forms of autophagy, and describe her lab’s recent advances on the identification of new molecular effectors and regulators for these pathways, the physiological role, and their changes in aging and age-related metabolic disorders and neurodegenerative diseases such as Parkinson, Alzheimer and Huntington disease.

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