个人简介
Richard Lifton is Professor, Adjunct of Genetics. Lifton was the Chair of the Department of Genetics from 1998-2016, Sterling Professor of Genetics and Internal Medicine, Founder and Executive Director of the Yale Center for Genome Analysis and Investigator of the Howard Hughes Medical Institute at Yale School of Medicine.He graduated summa cum laude from Dartmouth College, then received MD and PhD degrees (in Biochemistry) from Stanford University. Following clinical training in Internal Medicine at Brigham and Women’s Hospital, he continued on the faculty at Harvard Medical School before being recruited to Yale in 1993.
Lifton has used human genetics and genomics to identify rare mutations with large effect and elucidate biochemical mechanisms underlying diverse common diseases.In the particular case of hypertension, which affects more than a billion people worldwide and is a principal risk factor for heart attack, stroke and heart failure, together the leading cause of death worldwide, Lifton’s work has identified mutations and biochemical mechanisms that drive blood pressure to the highest and lowest blood pressures compatible with survival, implicating altered renal salt reabsorption in blood pressure variation. This work has also identified a previously unrecognized pathway that orchestrates the balance between salt and potassium homeostasis, providing a mechanism for dietary potassium’s ability to lower blood pressure. These findings provided the scientific basis for reducing salt balance in the prevention and treatment of hypertension, strategies that are used worldwide. Finding mutations underlying extreme outliers of common disease to identify pathways that can manipulated for health benefit has been broadly applied.
In 2009 Lifton’s group developed exome sequencing, selectively sequencing all of the genes in the human genome at very low cost, and demonstrated the utility of the technology by performing the first clinical diagnosis by genome-level sequencing. This technology has been widely used for discovery of hundreds of disease and trait loci. Lifton’s group has used this technology to discover genes underlying diverse cardiovascular, renal, and neoplastic diseases. These include discovery of mutations in chromatin modifiers that underlie congenital heart disease, and discovery that hormone-producing tumors are commonly caused by single somatic mutations.
Lifton is an elected member of the National Academy of Sciences, the National Academy of Medicine and the American Academy of Arts and Sciences.He has served on the Governing Councils of the National Academy of Sciences, the National Academy of Medicine, the Advisory Council to the NIH Director, the Scientific Advisory Boards of the Whitehead Institute of MIT, the Broad Institute of MIT and Harvard, the Simons Foundation for Autism Research and the Massachusetts General Hospital. He has also served as Co-Chair of the Planning Committee for the President’s Precision Medicine Initiative.
Lifton has received the highest scientific awards of the American Heart Association, the American Society of Nephrology, the Council for High Blood Pressure Research, the American Society of Hypertension, the International Society of Hypertension, and the International Society of Nephrology.He received the 2008 Wiley Prize for Biomedical Sciences and the 2014 Breakthrough Prize in Life Sciences.
PhD Stanford University (1986)
MD Stanford University (1982)
BA Dartmouth College (1975)
近期论文
查看导师新发文章
（温馨提示：请注意重名现象，建议点开原文通过作者单位确认）
Genomic landscape of cutaneous T cell lymphoma.
Choi J , Goh G, Walradt T, Hong BS, Bjornson RD, Overton JD, Foss FM, Edelson RL, Schatz DG, Boggon TJ, Girardi M, Lifton RP. Genomic landscape of cutaneous T-cell lymphoma. Nat Genet, 2015 (in press).
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.
Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nat Genet. 2014; 46:1135-9. PMCID: 4177367
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.
Goh G, Scholl UI, Healy JM, Choi M, Prasad ML, Nelson-Williams C, Kunstman JW, Korah R, Suttorp AC, Dietrich D, Haase M, Willenberg HS, Stålberg P, Hellman P, Akerström G, Björklund P, Carling T, Lifton RP. Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. Nat Genet. 2014; 46(6):613-7. PMCID: 4074779
De novo mutations in histone modifying genes in congenital heart disease.
Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton J, Romano-Adesman A, Bjornson R, Breitbart R, Brown K, Carriero N, Cheung Y, Deanfield J, DePalma S, Fakhro K, Glessner J, Hakonarson H, Italia M, Kaltman J, Kaski J, Kim R, Kline J, Lopez A, Mane S, Mitchell L, Newburger J, Pe'er I, Porter G, Sanders S, Seiden H, State M, Wang W, Warburton D, White P, Williams I, Zhao H, Seidman J, Brueckner M, Chung W, Gelb B, Goldmuntz E, Seidman C, Lifton RP. De novo mutations in histone modifying genes in congenital heart disease. Nature 498:220 – 223, 2013. PMID:23665959.
Mineralocorticoid receptor phosphorylation regulates ligand binding and renal response to volume depletion and hyperkalemia.
Shibata S, Rinehart J, Zhang J, Moeckel G, Castañeda-Bueno M, Stiegler AL, Boggon TJ,Gamba G, Lifton RP. Mineralocorticoid receptor phosphorylation regulates ligand binding and renal response to volume depletion and hyperkalemia. Cell Metabolism, Cell Metab. 2013, 18:660-71 (cover) PMID:24206662
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
Lemaire M, Fremeaux-Bacci V, Schaefer F, Choi M, Tang WH, Le Quintrec M, Fakhouri F, Taque S, Mobili F, Mafrtinez F, Ji W, Overton JD, Mane S, Nürnberg G, Altmüller J, Thiele H, Morin D, Deschenes G, Baudouin V, Llanas B, Collard L, Majid MA, Simkova E, Nürnberg P, Rioux-Leclerc N, Moeckel GW, Gubler MC, Hwa J, Loirat C, Lifton RP. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nature Genetics 45:531-536, 2013. PMID 23542698
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Poujol A, Välimäki MJ, De Ferrari ME, Sanjad SA, Gutkin M, Karet FE, Tucci JR, Stockigt JR, Keppler-Noreuil KM, Porter CC, Anand SK, Whiteford ML, Davis ID, Dewar SB, Bettinelli A, Fadrowski JJ, Belsha CW, Hunley TE, Nelson RD, Trachtman H, Cole TR, Pinsk M, Bockenhauer D, Shenoy M, Vaidyanathan P, Foreman JW, Rasoulpour M, Thameem F, Al-Shahrouri HZ, Radhakrishnan J, Gharavi AG, Goilav B, Lifton RP. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature. 482:98-102. 2012. PMID: 22266938
K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.
Choi M, Scholl UI, Yue P, Bjorkland P, Zhao B, Nelson-Williams C, Ji W, Cho Y, Patel A, Men CJ, Lois E, Wisgerhof MV, Geller DS, Mane S, Hellman P, Westin G, Akerstrom G, Wang W, Carling T, Lifton RP. K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science 331:768-772, 2011.
Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.
Choate KA, Lu Y, ZhouJ, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree A, Milstone LM, and Lifton RP. Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science 330:94-97, 2010.
Sites of regulated phosphorylation that control K-Cl cotransporter activity.
Rinehart, J., Maksimova, Y.D., Tanis, J.E., Stone, K.L., Hodson, C.A., Zhang, J.,Risinger, M., Pan, W., Wu, D., Colangelo, C.M., Forbush B, Joiner CH, Gulcicek E.E., Gallagher P.G., Lifton, R.P. Sites of regulated phosphorylation that control K-Cl cotransporter activity. Cell, 138, 525-536, 2009.
京公网安备 11010802027423号