Recommended Readings: Richard Lifton, M.D., Ph.D.

Friday Lecture Series

Rufus Cole Lecture

Genes, Genomes and the Future of Medicine

Richard Lifton, M.D., Ph.D.,director, Yale Center for Human Genetics and

Genomics,chair, department of genetics and Sterling Professor of Genetics and

Internal Medicine, Yale University School of Medicine;

investigator, Howard Hughes Medical Institute

June 1, 2012

3:45 p.m.-5:00 p.m. (Refreshments, 3:15 p.m., Abby Lounge)

Caspary Auditorium

 

Recommended Reading

Choi, M., U. I. Scholl, W. Ji, T. Liu, I. R. Tikhonova, P. Zumbo, A. Nayir, et al. 2009. Genetic Diagnosis by Whole Exome Capture and Massively Parallel DNA Sequencing. Proceedings of the National Academy of Sciences of the United States of America 106 (45): 19096-19101

Choi, M., U. I. Scholl, P. Yue, P. Björklund, B. Zhao, C. Nelson-Williams, W. Ji, et al. 2011. K + Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension. Science 331 (6018): 768-772

Ji, W., J. N. Foo, B. J. O’Roak, H. Zhao, M. G. Larson, D. B. Simon, C. Newton-Cheh, M. W. State, D. Levy, and R. P. Lifton. 2008. Rare Independent Mutations in Renal Salt Handling Genes Contribute to Blood Pressure Variation. Nature Genetics 40 (5): 592-599

Lifton, R. P. 2010. Individual Genomes on the Horizon. New England Journal of Medicine 362 (13): 1235-1236

Lo, S. M., M. Choi, J. Liu, D. Jain, R. G. Boot, W. W. Kallemeijn, J. M. F. G. Aerts, et al. 2012. Phenotype Diversity in Type 1 Gaucher Disease: Discovering the Genetic Basis of Gaucher disease/hematologic Malignancy Phenotype by Individual Genome Analysis. Blood 119 (20): 4731-4740

Monette, M. Y., J. Rinehart, R. P. Lifton, and B. Forbush. 2011. Rare Mutations in the Human NA-K-CL Cotransporter (NKCC2) Associated with Lower Blood Pressure Exhibit Impaired Processing and Transport Function. American Journal of Physiology – Renal Physiology 300 (4): 840-847

Scholl, U. I., M. Choi, T. Liu, V. T. Ramaekers, M. G. Häusler, J. Grimmer, S. W. Tobe, A. Farhi, C. Nelson-Williams, and R. P. Lifton. 2009. Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance (SeSAME Syndrome) Caused by Mutations in KCNJ10. Proceedings of the National Academy of Sciences of the United States of America 106 (14): 5842-5847

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Rockefeller One of Ten Sites Receiving Renewed Translational Medicine Grants

NEW YORK (GenomeWeb News) – Ten research institutes have received a total of $498 million from the National Center for Research Resources to fund the second five-year phase of their Clinical and Translational Science Institutes.

The largest awards in this second round of Clinical and Translational Science Awards funding include a $112 million grant to the University of California, San Francisco; $67.3 million to the University of Pittsburgh; $62.8 million to Mayo Clinic; and $54.8 million to the University of Pennsylvania.

Other research centers receiving the latest round of CTSA funding include Yale University ($45.4 million); Oregon Health & Sciences University ($39.8 million); Columbia University Medical Center ($38.9 million); Rockefeller University ($36.1 million); University of Rochester ($20.7 million); and UC Davis ($20 million).

“These institutes were the pioneers in this program and are to be commended for the work they have done in bridging the traditional divides between laboratory research and medical practice,” Barbara Alving, director of the National Center for Research Resources, said in a statement from UCSF.

“They were tasked with transforming the way their institutions coordinate research to make it more proactive and effective in producing real-world results, and in the process, they have served as innovative models nationwide,” Alving said.

According to UCSF, the National Institutes of Health plans to release a report on the CTSA program in August that will highlight the research that has sprung from this program.

UCSF said that the CTSA grants have supported the creation of a framework to enable researchers to “move beyond the traditional silos of science to collaborate on promising research and find the training and resources to move those projects ahead.”

The university said that at UCSF the funding has enabled the creation of “an extensive network of training and support for researchers to help bridge the gaps between laboratory science, clinical care, and improvements in health.”