We work at the interface of computational science, statistics, tumor biology, and genomics.
We develop advanced computational and genomic approaches paired with detailed clinical phenotyping to understand the molecular mechanisms driving rare cancers and unique phenotypes - rare diagnoses, familial predisposition, unusual comorbidities, and outlier therapeutic response. We collaborate closely with clinicians specializing in pediatric oncology, immunotherapy, and sarcoma care both at the Institut Curie and internationally.
Currently we're working on a series of articles on pediatric oncology, immunotherapy and sarcoma treatment.
Main research axes
- Developing genomic tools for rare tumors
- Non-telomeric functions of ATRX/DAXX in cancer
- Tumor/immune interactions in cancer development
- Waterfall, J.J.*, Killian, J.K.*, Meltzer, P.S. (2014) “The role of mutation of metabolism-related genes in genomic hypermethylation.” Biochem Biophys Res Commun.
- Waterfall, J.J., et. al. (2014) “High prevalence of MAP2K1 mutations in variant and IGHV4-34-expressing hairy-cell leukemias.” Nat. Genet. 46:8-10
- Core, L.J.*, Waterfall, J.J.*, Lis, J.T. (2008) “Nascent RNA sequencing reveals widespread pausing and divergent initiation at human promoters.” Science 322:1845-8 Epub 2008 Dec 4 (* equal contribution)
- Li, J., et. al. (2016) “Point mutations in exon 1B of APC reveal gastric adenocarcinoma and proximal polyposis of the stomach as a familial adenomatous polyposis variant.” Am. J. Hum. Genet. 98(5):830-42
- Killian, J.K., et. al. (2014) “Recurrent epimutation of SDHC in gastrointestinal stromal tumors.” Sci Transl Med. 6(268):268ra177