Adjunct faculty typically have an academic or research appointment at another institution and contribute or collaborate with one or more School of Medicine faculty members or programs.
Adjunct rank detailsRichard Lifton, MD, PhD
Professor (Adjunct) of GeneticsAbout
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Titles
Professor (Adjunct) of Genetics
Biography
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.
Appointments
Genetics
Professor AdjunctPrimary
Other Departments & Organizations
- Dean's Workshops
- Fellowship Training
- Genetics
- High Performance Computation
- Yale Cancer Center
- Yale Ventures
Education & Training
- PhD
- Stanford University (1986)
- MD
- Stanford University (1982)
- BA
- Dartmouth College (1975)
Research
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Overview
By investigation of rare families recruited from around the world with extreme phenotypes suggesting genetic causation, we have identified genes that cause to these traits, putting a molecular face on their pathogenesis. In 2009 we reduced to practice the rapid and inexpensive sequencing of all genes in the genome and have used this platform for discovery of rare mutations with large effect in cardiovascular disease, cancer, kidney disease, skin disease and immunologic disease. These studies have revealed new pathways and mechanisms that regulate metabolic traits including blood pressure, bone mass, and electrolyte homeostasis, and genes that when mutated cause diverse diseases including heart attacks, strokes, kidney disease, cancer, autoinflammatory disease, skin disease and congenital heart disease. These studies have defined new strategies for disease gene discovery and point to the opportunity to determine the consequence of mutation of every gene in the human genome.
Medical Research Interests
ORCID
0000-0002-5745-5984
Research at a Glance
Yale Co-Authors
Publications Timeline
Research Interests
Shrikant Mane, PhD
Garrett Allington
Former YSMKristopher Kahle, MD, PhD
Kaya Bilguvar, MD, PhD
Engin Deniz, MD
Francesc Lopez-Giraldez, PhD
Mutation
Lymphoma, T-Cell, Cutaneous
Hyperaldosteronism
Publications
2026
Chapter 30 Genetic disorders of renal salt homeostasis and blood pressure
Scholl U, Lifton R. Chapter 30 Genetic disorders of renal salt homeostasis and blood pressure. 2026, 1103-1141. DOI: 10.1016/b978-0-12-815389-5.00039-3.Books
2025
Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes
Milo Rasouly H, Krishna Murthy S, Vena N, Povysil G, Beenken A, Verbitsky M, Shril S, Lekkerkerker I, Yang S, Khan A, Fasel D, Wongboonsin J, Martino J, Ke J, Elefant N, Tomar N, Harnof O, Kisselev S, Bheda S, Reytan-Miron S, Lim T, Jamry-Dziurla A, Lugani F, Zhang J, Marasa M, Kolupaeva V, Groopman E, Jin G, Ghavami I, Stevens K, Coughlin A, Kil B, Chatterjee D, Bradbury D, Zheng J, Mehl K, Morban M, Reingold R, Piva S, Mu X, Mitrotti A, Szmigielska A, Gliwińska A, Ranghino A, Bomback A, Badenski A, Latos-Bielenska A, Capone V, Materna-Kiryluk A, Amoroso A, Izzi C, La Scola C, Cohen D, Santoro D, Drozdz D, Fiaccadori E, Lin F, Scolari F, Tondolo F, La Manna G, Appel G, Ghiggeri G, Zaza G, Montini G, Masnata G, Krzemien G, Pisani I, Radhakrishnan J, Zachwieja K, Gesualdo L, Biancone L, Meneghesso D, Mizerska-Wasiak M, Tkaczyk M, Zaniew M, Borszewska-Kornacka M, Szczepanska M, Saraga M, Rao M, Bodria M, Miklaszewska M, Uy N, Baraldi O, Bjanid O, Esposito P, Zamboli P, Marzuillo P, Canetta P, Sikora P, Westland R, Crew R, Alam S, Guarino S, Negrisolo S, Hays T, Mane S, Grandinetti V, Tasic V, Lozanovski V, Caliskan Y, Goldstein D, Lifton R, Ionita-Laza I, Kiryluk K, van Eerde A, Hildebrandt F, Sanna-Cherchi S, Gharavi A. Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes. Nature Communications 2025, 16: 8980. PMID: 41068109, PMCID: PMC12511374, DOI: 10.1038/s41467-025-64910-0.Commentaries, Editorials and LettersCitationsAltmetricExome analysis links kidney malformations to developmental disorders and reveals causal genes
Milo Rasouly H, Krishna Murthy S, Vena N, Povysil G, Beenken A, Verbitsky M, Shril S, Lekkerkerker I, Yang S, Khan A, Fasel D, Wongboonsin J, Martino J, Ke J, Elefant N, Tomar N, Harnof O, Kisselev S, Bheda S, Reytan-Miron S, Lim T, Jamry-Dziurla A, Lugani F, Zhang J, Marasa M, Kolupaeva V, Groopman E, Jin G, Ghavami I, Stevens K, Coughlin A, Kil B, Chatterjee D, Bradbury D, Zheng J, Mehl K, Morban M, Reingold R, Piva S, Mu X, Mitrotti A, Szmigielska A, Gliwińska A, Ranghino A, Bomback A, Badenski A, Latos-Bielenska A, Capone V, Materna-Kiryluk A, Amoroso A, Izzi C, La Scola C, Cohen D, Santoro D, Drozdz D, Fiaccadori E, Lin F, Scolari F, Tondolo F, La Manna G, Appel G, Ghiggeri G, Zaza G, Montini G, Masnata G, Krzemien G, Pisani I, Radhakrishnan J, Zachwieja K, Gesualdo L, Biancone L, Meneghesso D, Mizerska-Wasiak M, Tkaczyk M, Zaniew M, Borszewska-Kornacka M, Szczepanska M, Saraga M, Rao M, Bodria M, Miklaszewska M, Uy N, Baraldi O, Bjanid O, Esposito P, Zamboli P, Marzuillo P, Canetta P, Sikora P, Westland R, Crew R, Alam S, Guarino S, Negrisolo S, Hays T, Mane S, Grandinetti V, Tasic V, Lozanovski V, Caliskan Y, Goldstein D, Lifton R, Ionita-Laza I, Kiryluk K, van Eerde A, Hildebrandt F, Sanna-Cherchi S, Gharavi A. Exome analysis links kidney malformations to developmental disorders and reveals causal genes. Nature Communications 2025, 16: 7290. PMID: 40774958, PMCID: PMC12332173, DOI: 10.1038/s41467-025-62319-3.Peer-Reviewed Original ResearchCitationsAltmetricA recurrent de novo damaging variant in EMP2 causes progressive symmetric erythrokeratoderma
Jiang X, Mortlock R, Pironon N, Zhou J, Hu R, Liu W, Acosta A, Shwayder T, Hovnanian A, Lifton R, Choate K. A recurrent de novo damaging variant in EMP2 causes progressive symmetric erythrokeratoderma. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2509896122. PMID: 40758889, PMCID: PMC12358830, DOI: 10.1073/pnas.2509896122.Peer-Reviewed Original ResearchCitationsAltmetricGenomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes
Sierant M, Jin S, Bilguvar K, Morton S, Dong W, Jiang W, Lu Z, Li B, López-Giráldez F, Tikhonova I, Zeng X, Lu Q, Choi J, Zhang J, Nelson-Williams C, Knight J, Zhao H, Cao J, Mane S, Sedore S, Gruber P, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor J, King E, Wagner M, Srivastava D, Shen Y, Bernstein D, Porter G, Newburger J, Seidman J, Roberts A, Yandell M, Yost H, Tristani-Firouzi M, Kim R, Chung W, Gelb B, Seidman C, Brueckner M, Lifton R. Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2420343122. PMID: 40127276, PMCID: PMC12002227, DOI: 10.1073/pnas.2420343122.Peer-Reviewed Original ResearchCitationsAltmetricRecessive genetic contribution to congenital heart disease in 5,424 probands
Dong W, Jin S, Sierant M, Lu Z, Li B, Lu Q, Morton S, Zhang J, López-Giráldez F, Nelson-Williams C, Knight J, Zhao H, Cao J, Mane S, Gruber P, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor J, Cnota J, Wagner M, Srivastava D, Bernstein D, Porter G, Newburger J, Roberts A, Yandell M, Yost H, Tristani-Firouzi M, Kim R, Seidman J, Chung W, Gelb B, Seidman C, Lifton R, Brueckner M. Recessive genetic contribution to congenital heart disease in 5,424 probands. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2419992122. PMID: 40030011, PMCID: PMC11912448, DOI: 10.1073/pnas.2419992122.Peer-Reviewed Original ResearchCitationsAltmetricPTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors
DeSpenza T, Kiziltug E, Allington G, Barson D, McGee S, O’Connor D, Robert S, Mekbib K, Nanda P, Greenberg A, Singh A, Duy P, Mandino F, Zhao S, Lynn A, Reeves B, Marlier A, Getz S, Nelson-Williams C, Shimelis H, Walsh L, Zhang J, Wang W, Prina M, OuYang A, Abdulkareem A, Smith H, Shohfi J, Mehta N, Dennis E, Reduron L, Hong J, Butler W, Carter B, Deniz E, Lake E, Constable R, Sahin M, Srivastava S, Winden K, Hoffman E, Carlson M, Gunel M, Lifton R, Alper S, Jin S, Crair M, Moreno-De-Luca A, Luikart B, Kahle K. PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors. Nature Neuroscience 2025, 28: 536-557. PMID: 39994410, PMCID: PMC12038823, DOI: 10.1038/s41593-024-01865-3.Peer-Reviewed Original ResearchCitationsAltmetric
2024
De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly
Allington G, Mehta N, Dennis E, Mekbib K, Reeves B, Kiziltug E, Chen S, Zhao S, Duy P, Saleh M, Ang L, Fan B, Nelson-Williams C, Moreno-de-Luca A, Haider S, Lifton R, Alper S, McGee S, Jin S, Kahle K. De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly. Brain 2024, 148: 1817-1828. PMID: 39680505, PMCID: PMC13017301, DOI: 10.1093/brain/awae395.Peer-Reviewed Original ResearchCitationsAltmetricPathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics
DeSpenza T, Singh A, Allington G, Zhao S, Lee J, Kiziltug E, Prina M, Desmet N, Dang H, Fields J, Nelson-Williams C, Zhang J, Mekbib K, Dennis E, Mehta N, Duy P, Shimelis H, Walsh L, Marlier A, Deniz E, Lake E, Constable R, Hoffman E, Lifton R, Gulledge A, Fiering S, Moreno-De-Luca A, Haider S, Alper S, Jin S, Kahle K, Luikart B. Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2314702121. PMID: 38916997, PMCID: PMC11228466, DOI: 10.1073/pnas.2314702121.Peer-Reviewed Original ResearchCitationsAltmetricAXIN1 mutations in nonsyndromic craniosynostosis.
Timberlake A, Hemal K, Gustafson J, Hao L, Valenzuela I, Slavotinek A, Cunningham M, Kahle K, Lifton R, Persing J. AXIN1 mutations in nonsyndromic craniosynostosis. Journal Of Neurosurgery Pediatrics 2024, 34: 246-251. PMID: 38905707, PMCID: PMC11200303, DOI: 10.3171/2024.5.peds24115.Peer-Reviewed Original ResearchCitationsAltmetric
Academic Achievements & Community Involvement
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Activities
activity YALE-UCL Collaborative
01/01/2011 - PresentResearchDetailsLondon, England, United KingdomAbstract/SynopsisDr. Lifton is on the Joint Strategy Committee for the Yale-UCL Collaborative, an alliance which will provide opportunities for high-level scientific research, clinical and educational collaboration across the institutions involved: Yale University, Yale School of Medicine, Yale-New Haven Hospital and UCL (University College London) and UCL Partners
activity Transatlantic Network on Hypertension-Renal Salt Handling in the Control of Blood Pressure
09/01/2007 - PresentResearchDetailsParis, IDF, FranceAbstract/SynopsisDrs Hebert and Lifton will join leading researchers in Switzerland, France and Mexico in a transatlantic collaboration aimed at pinpointing the kidney’s role in high blood pressure.
Honors
honor Breakthrough Prize in Life Sciences
01/01/2014National AwardDetailsUnited Stateshonor Member
01/01/2012National AwardAmerican Academy of Arts and SciencesDetailsUnited Stateshonor Doctor of Science (Honorary)
01/01/2005National AwardMt. Sinai School of MedicineDetailsUnited Stateshonor Distinguished Scientist Award
01/01/2005National AwardAmerican Heart AssociationDetailsUnited Stateshonor Robert Tigerstedt Award
01/01/2005International AwardInternational Society of HypertensionDetailsUnited States
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