Adjunct Faculty
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 detailsLuis R Saraiva, PhD, MBA
he/him/his
Associate Professor AdjunctDownloadHi-Res Photo
About
Copy Link
Titles
Associate Professor Adjunct
Biography
In 2004, he concluded his integrated B.Sc. and M.Sc. degree in Biology at the University of Evora and the Gulbenkian Institute of Science in Portugal. He advanced to a Ph.D. in in Genetics at the International Graduate School in Genetics and Functional Genomics of the University of Cologne (Germany), graduating summa cum laude in 2008. Next, his academic journey took him to Harvard Medical School as a visiting scientist, funded by the Boehringer Ingelheim Fonds, followed by his first postdoctoral appointment at the Fred Hutchinson Cancer Research Center (USA). In 2013, he received the EBI–Sanger Postdoctoral (ESPOD) Fellowship, which led him to continue his postdoctoral training at the EMBL-European Bioinformatics Institute and the Wellcome Sanger Institute in Cambridge (UK), where he also earned a Sanger Early Career Innovation Award.
In 2015, he joined Sidra Medicine (Qatar), where he is currently base, leading the Human Disease Modeling and Therapeutics Laboratory and the Congenital Malformations Clinical Research Program. He served as Adjunct Faculty at the Monell Chemical Senses Center (USA) from 2016-2023, has been a Joint Professor at Hamad bin Khalifa University (Qatar) since 2018, and an Associate Professor Adjunct at Yale University (USA) since 2024. His lab specializes in developing biological assays to explore the molecular bases of rare genetic diseases, aiming to push the boundaries of basic science and turn research into groundbreaking diagnostics and personalized therapies for neurological, kidney, and heart diseases.
Last Updated on July 09, 2024.
Appointments
Comparative Medicine
Associate Professor AdjunctPrimary
Other Departments & Organizations
Education & Training
- MBA
- Oxford Brookes University, Oxford Brookes Business School (2025)
- EBI–Sanger Postdoctoral (ESPOD) Fellow
- European Bioinformatics Institute (EMBL-EBI) + Wellcome Sanger Institute (WSI) (2015)
- Postdoctoral Associate
- Fred Hutch Cancer Center (2013)
- Visiting Scientist
- Harvard Medical School (2008)
- PhD
- University of Cologne, Genetics (2008)
- MSc
- University of Evora, Biology (2004)
Research
Copy Link
Overview
Medical Research Interests
Cardiomyopathies; Disease Models, Animal; Drug Repositioning; Genetics, Medical; Genomic Medicine; Nephrology; Neurology; Obesity; Olfaction Disorders; Translational Research, Biomedical
ORCID
0000-0003-4079-0396
Research at a Glance
Publications Timeline
A big-picture view of Luis R Saraiva's research output by year.
Research Interests
Research topics Luis R Saraiva is interested in exploring.
59Publications
4,942Citations
Olfaction Disorders
Obesity
Publications
Featured Publications
Functional characterization and cAMP-mediated rescue of a novel truncating AVPR2 mutation causing nephrogenic diabetes insipidus
Manoel D, Mohammed I, Hussain K, Saraiva L. Functional characterization and cAMP-mediated rescue of a novel truncating AVPR2 mutation causing nephrogenic diabetes insipidus. AJP Endocrinology And Metabolism 2025, 329: e764-e773. PMID: 41071673, DOI: 10.1152/ajpendo.00325.2025.Peer-Reviewed Original ResearchCitationsAltmetricGenetics of GH Deficiency: Insights From a Cohort of 203 Patients
Ribeiro A, Coutinho E, Syed N, Bastos M, Bacelar C, Costa C, Freitas P, Gomes L, Agapito A, Fonseca F, Amaral D, Carvalho D, Sampaio M, Pereira B, Antunes A, Leite V, Castro J, Barros L, Pina R, Martins S, Martinho M, Martins D, Luiz H, Mirante A, Lopes L, Limbert C, Pereira C, Gomes M, Cardoso H, Dinis I, Paiva S, Gonçalves C, Saraiva L, Lemos M. Genetics of GH Deficiency: Insights From a Cohort of 203 Patients. The Journal Of Clinical Endocrinology & Metabolism 2025, 111: e522-e534. PMID: 40554621, DOI: 10.1210/clinem/dgaf377.Peer-Reviewed Original ResearchCitationsAltmetricTowards a consensus atlas of human and mouse adipose tissue at single-cell resolution
Loft A, Emont M, Weinstock A, Divoux A, Ghosh A, Wagner A, Hertzel A, Maniyadath B, Deplancke B, Liu B, Scheele C, Lumeng C, Ding C, Ma C, Wolfrum C, Strieder-Barboza C, Li C, Truong D, Bernlohr D, Stener-Victorin E, Kershaw E, Yeger-Lotem E, Shamsi F, Hui H, Camara H, Zhong J, Kalucka J, Ludwig J, Semon J, Jalkanen J, Whytock K, Dumont K, Sparks L, Muir L, Fang L, Massier L, Saraiva L, Beyer M, Jeschke M, Mori M, Boroni M, Walsh M, Patti M, Lynes M, Blüher M, Rydén M, Hamda N, Solimini N, Mejhert N, Gao P, Gupta R, Murphy R, Pirouzpanah S, Corvera S, Tang S, Das S, Schmidt S, Zhang T, Nelson T, O’Sullivan T, Efthymiou V, Wang W, Tong Y, Tseng Y, Mandrup S, Rosen E. Towards a consensus atlas of human and mouse adipose tissue at single-cell resolution. Nature Metabolism 2025, 7: 875-894. PMID: 40360756, PMCID: PMC12707904, DOI: 10.1038/s42255-025-01296-9.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsCitationsAltmetricGenetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort
Carriço J, Gonçalves C, Al-Naama A, Syed N, Aragüés J, Bastos M, Fonseca F, Borges T, Pereira B, Pignatelli D, Carvalho D, Cunha F, Saavedra A, Rodrigues E, Saraiva J, Ruas L, Vicente N, Martins J, De Sousa Lages A, Oliveira M, Castro-Correia C, Melo M, Martins R, Couto J, Moreno C, Martins D, Oliveira P, Martins T, Martins S, Marques O, Meireles C, Garrão A, Nogueira C, Baptista C, Gama-de-Sousa S, Amaral C, Martinho M, Limbert C, Barros L, Vieira I, Sabino T, Saraiva L, Lemos M. Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort. Human Reproduction Open 2024, 2024: hoae053. PMID: 39308770, PMCID: PMC11415827, DOI: 10.1093/hropen/hoae053.Peer-Reviewed Original ResearchCitationsAltmetricIdentifying candidate genes underlying isolated congenital anosmia
Kamarck M, Trimmer C, Murphy N, Gregory K, Manoel D, Logan D, Saraiva L, Mainland J. Identifying candidate genes underlying isolated congenital anosmia. Clinical Genetics 2023, 105: 376-385. PMID: 38148624, PMCID: PMC10932857, DOI: 10.1111/cge.14470.Peer-Reviewed Original ResearchCitationsAltmetricShort-term consumption of highly processed diets varying in macronutrient content impair the sense of smell and brain metabolism in mice
Makhlouf M, Souza D, Kurian S, Bellaver B, Ellis H, Kuboki A, Al-Naama A, Hasnah R, Venturin G, da Costa J, Venugopal N, Manoel D, Mennella J, Reisert J, Tordoff M, Zimmer E, Saraiva L. Short-term consumption of highly processed diets varying in macronutrient content impair the sense of smell and brain metabolism in mice. Molecular Metabolism 2023, 79: 101837. PMID: 37977411, PMCID: PMC10724696, DOI: 10.1016/j.molmet.2023.101837.Peer-Reviewed Original ResearchCitationsAltmetricInvestigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry
Okashah S, Vasudeva D, Jerbi A, Khodjet-El-khil H, Al-Shafai M, Syed N, Kambouris M, Udassi S, Saraiva L, Al-Saloos H, Udassi J, Al-Shafai K. Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry. Genes 2022, 13: 1369. PMID: 36011280, PMCID: PMC9407366, DOI: 10.3390/genes13081369.Peer-Reviewed Original ResearchCitationsAltmetricA 3D transcriptomics atlas of the mouse nose sheds light on the anatomical logic of smell
Ruiz Tejada Segura M, Abou Moussa E, Garabello E, Nakahara T, Makhlouf M, Mathew L, Wang L, Valle F, Huang S, Mainland J, Caselle M, Osella M, Lorenz S, Reisert J, Logan D, Malnic B, Scialdone A, Saraiva L. A 3D transcriptomics atlas of the mouse nose sheds light on the anatomical logic of smell. Cell Reports 2022, 38: 110547. PMID: 35320714, PMCID: PMC8995392, DOI: 10.1016/j.celrep.2022.110547.Peer-Reviewed Original ResearchCitationsAltmetricClinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus
Selvaraj S, Rodrigues D, Krishnamoorthy N, Fakhro K, Saraiva L, Lemos M. Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus. Journal Of Personalized Medicine 2022, 12: 118. PMID: 35055433, PMCID: PMC8779739, DOI: 10.3390/jpm12010118.Peer-Reviewed Original ResearchCitationsAltmetricCongenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease
Kubo S, Fritz J, Raquer-McKay H, Kataria R, Vujkovic-Cvijin I, Al-Shaibi A, Yao Y, Zheng L, Zou J, Waldman A, Jing X, Farley T, Park A, Oler A, Charles A, Makhlouf M, AbouMoussa E, Hasnah R, Saraiva L, Ganesan S, Al-Subaiey A, Matthews H, Flano E, Lee H, Freeman A, Sefer A, Sayar E, Çakır E, Karakoc-Aydiner E, Baris S, Belkaid Y, Ozen A, Lo B, Lenardo M. Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease. Nature Immunology 2021, 23: 75-85. PMID: 34937930, PMCID: PMC11060421, DOI: 10.1038/s41590-021-01093-y.Peer-Reviewed Original ResearchCitationsAltmetricMeSH KeywordsA549 CellsADAM17 ProteinAnimalsCarrier ProteinsChildChild, PreschoolCitrobacter rodentiumColitisCytokinesEnterobacteriaceae InfectionsFemaleHEK293 CellsHumansInfant, NewbornMacrophagesMaleMiceMice, Inbred C57BLMutationPrimary Immunodeficiency DiseasesPseudomonas aeruginosaPseudomonas InfectionsSignal Transduction
Get In Touch
Copy Link