Jorge Reis-Filho
As the VP of Cancer Biomarker Development, I lead a dedicated team focused on developing and validating mechanistically-informed yet clinically-deployable biomarkers for patient selection and therapeutic response prediction. Our aim is to identify and treat patients earlier, minimise unwanted effects from treatment, and help design innovative clinical trials based on rigorous science.
With a background in molecular pathology, bioinformatics, functional genomics and artificial intelligence, I have pioneered innovative methods to decipher cancer genomics, intra-tumour genetic heterogeneity and DNA repair defects.
In my previous role as the Chief of Experimental Pathology at Memorial Sloan Kettering Cancer Center, I leveraged my expertise to bridge academic medical research with biotechnology and pharmaceutical industries. I have served on numerous scientific advisory boards, on the Board of Directors for Grupo Oncoclínicas, and as a consultant for multiple biotech companies and Goldman Sachs Merchant Banking. In these roles, I provided scientific, clinical, and technical advice in the support of healthcare, healthtech, biotech, and big data strategies, seeking to revolutionise cancer diagnosis and treatment through omics and computational pathology solutions. I have also had senior editorial roles in pathology, oncology and research journals, including The Journal of the National Cancer Institute, The Journal of Pathology, and npj Breast Cancer.
I have a passion about nurturing the next generation of scientists and promoting diversity within the scientific community. Throughout my career, I have collaborated with talented individuals from diverse backgrounds, united by a shared commitment to harnessing science for positive change.
My work integrates the fields of molecular pathology, bioinformatics, functional genomics and artificial intelligence to develop optimal biomarkers to ensure that patients receive the right treatment at the optimal point in their therapeutic journey.
2024
2023
2010
CURRENT ROLE
2012 – 2023
2016 – 2023
2010 – 2012
Career highlights
2005
2017
2019
2021
Featured publications
Chromothripsis-mediated small cell lung carcinoma
Rekhtman N, Tischfield SE, Febres-Aldana CA, Lee JJ, Chang JC, Herzberg BO, Selenica P, Woo HJ, Vanderbilt CM, Yang SR, Xu F, Bowman AS, da Silva EM, Noronha AM, Mandelker DL, Mehine M, Mukherjee S, Blanco-Heredia J, Orgera JJ, Nanjangud GJ, Baine MK, Aly RG, Sauter JL, Travis WD, Savari O, Moreira AL, Falcon CJ, Bodd FM, Wilson CE, Sienty JV, Manoj P, Sridhar H, Wang L, Choudhury NJ, Offin M, Yu HA, Quintanal-Villalonga A, Berger MF, Ladanyi M, Donoghue MTA, Reis-Filho JS, Rudin CM. Cancer Discov. 2024 Aug 26. doi: 10.1158/2159-8290.CD-24-0286. Online ahead of print.PMID: 39185963.
Regression-based Deep-Learning predicts molecular biomarkers from pathology slides
El Nahhas OSM, Loeffler CML, Carrero ZI, van Treeck M, Kolbinger FR, Hewitt KJ, Muti HS, Graziani M, Zeng Q, Calderaro J, Ortiz-Brüchle N, Yuan T, Hoffmeister M, Brenner H, Brobeil A, Reis-Filho JS, Kather JN. Nat Commun. 2024 Feb 10;15(1):1253.
Cancer-Causative Mutations Occurring in Early Embryogenesis
Pareja F, Ptashkin RN, Brown DN, Derakhshan F, Selenica P, da Silva EM, Gazzo AM, Da Cruz Paula A, Breen K, Shen R, Marra A, Zehir A, Benayed R, Berger MF, Ceyhan-Birsoy O, Jairam S, Sheehan M, Patel U, Kemel Y, Casanova-Murphy J, Schwartz CJ, Vahdatinia M, Comen E, Borsu L, Pei X, Riaz N, Abramson DH, Weigelt B, Walsh MF, Hadjantonakis AK, Ladanyi M, Offit K, Stadler ZK, Robson ME, Reis-Filho JS, Mandelker D. Cancer Discov. 2022 Apr 1;12(4):949-957.
High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants
Razavi P, Li BT, Brown DN, Jung B, Hubbell E, Shen R, Abida W, Juluru K, De Bruijn I, Hou C, Venn O, Lim R, Anand A, Maddala T, Gnerre S, Vijaya Satya R, Liu Q, Shen L, Eattock N, Yue J, Blocker AW, Lee M, Sehnert A, Xu H, Hall MP, Santiago-Zayas A, Novotny WF, Isbell JM, Rusch VW, Plitas G, Heerdt AS, Ladanyi M, Hyman DM, Jones DR, Morrow M, Riely GJ, Scher HI, Rudin CM, Robson ME, Diaz LA Jr, Solit DB, Aravanis AM, Reis-Filho JS. Nat Med. 2019 Dec;25(12):1928-1937.
Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors
Pareja F, Brandes AH, Basili T, Selenica P, Geyer FC, Fan D, Da Cruz Paula A, Kumar R, Brown DN, Gularte-Mérida R, Alemar B, Bi R, Lim RS, de Bruijn I, Fujisawa S, Gardner R, Feng E, Li A, da Silva EM, Lozada JR, Blecua P, Cohen-Gould L, Jungbluth AA, Rakha EA, Ellis IO, Edelweiss MIA, Palazzo J, Norton L, Hollmann T, Edelweiss M, Rubin BP, Weigelt B, Reis-Filho JS. Nat Commun. 2018 Aug 30;9(1):3533.
Whole-genome single-cell copy number profiling from formalin-fixed paraffin-embedded samples
Martelotto LG, Baslan T, Kendall J, Geyer FC, Burke KA, Spraggon L, Piscuoglio S, Chadalavada K, Nanjangud G, Ng CK, Moody P, D'Italia S, Rodgers L, Cox H, da Cruz Paula A, Stepansky A, Schizas M, Wen HY, King TA, Norton L, Weigelt B, Hicks JB, Reis-Filho JS. Nat Med. 2017 Mar;23(3):376-385.
Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands
Weinreb I, Piscuoglio S, Martelotto LG, Waggott D, Ng CK, Perez-Ordonez B, Harding NJ, Alfaro J, Chu KC, Viale A, Fusco N, da Cruz Paula A, Marchio C, Sakr RA, Lim R, Thompson LD, Chiosea SI, Seethala RR, Skalova A, Stelow EB, Fonseca I, Assaad A, How C, Wang J, de Borja R, Chan-Seng-Yue M, Howlett CJ, Nichols AC, Wen YH, Katabi N, Buchner N, Mullen L, Kislinger T, Wouters BG, Liu FF, Norton L, McPherson JD, Rubin BP, Clarke BA, Weigelt B, Boutros PC, Reis-Filho JS. Nat Genet. 2014 Nov;46(11):1166-9.
Triple-negative breast cancer
Foulkes WD, Smith IE, Reis-Filho JS. N Engl J Med. 2010 Nov 11;363(20):1938-48.
Breast cancer molecular profiling with single sample predictors: a retrospective analysis
Weigelt B, Mackay A, A'hern R, Natrajan R, Tan DS, Dowsett M, Ashworth A, Reis-Filho JS. Lancet Oncol. 2010 Apr;11(4):339-49.
Resistance to therapy caused by intragenic deletion in BRCA2
Edwards SL, Brough R, Lord CJ, Natrajan R, Vatcheva R, Levine DA, Boyd J, Reis-Filho JS, Ashworth A. Nature. 2008 Feb 28;451(7182):1111-5.
Veeva ID: Z4-70120
Date of preparation: November 2024