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David Joseph Kwiatkowski, PhD, MD
Senior Physician, Brigham and Women's Hospital
Professor of Medicine, Harvard Medical School

Brigham and Women's Hospital
Department of Medicine
Translational Medicine
75 Francis Street
Boston, MA 02115

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Research Narrative:

I am a human and molecular geneticist. A major research interest area is the human genetic disease and tumor suppressor gene syndrome tuberous sclerosis (TSC). There is a broad interest in the human molecular genetics of TSC, including defining the spectrum of disease, the identification of potential additional genes and modifier genes, the rate of mosaicism and clinical implications, and the correlation between mutation types and clinical phenotype. There is also a major interest in defining the pathogenesis of disease manifestations occurring in TSC, including understanding how renal angiomyolipoma, pulmonary lymphangioleiomyomatosis, and cortical tubers develop, as these are the cause of the major morbidity and mortality that is seen in TSC patients. Other genetic changes that occur in the tumors that arise in TSC patients are also of interest.

The biochemical and physiological function of the TSC1 and TSC2 proteins is also a major interest. Development of mouse models of tuberous sclerosis and in particular using conditional alleles with tissue specific-cre recombinase expression to develop authentic models of human tuberous sclerosis is also a major interest. There is a particular focus on models of the renal, lung and brain lesions. These mouse models are useful both in the exploration of disease pathogenesis and in therapeutic trials. We are also interested in the functions of the TSC1 and TSC2 genes in the common human malignancies, particularly lung cancer.

A second major interest is genomic technologies and their use for analysis of both germline and somatic mutations. This is related in part to the interest in the human molecular genetics of TSC. This interest also extends to the use of genomic approaches for the evaluation of somatic changes associated with cancer, and translation of these methods to clinical application.

Columbia University, College of Physicians and Surgeons, 1979, MD
Massachusetts Institute of Technology, 1975, Ph.D.

Publications (Pulled from Harvard Catalyst Profiles):

1. Treichel AM, Kwiatkowski DJ, Moss J, Darling TN. A diagnostic algorithm for enhanced detection of mosaic tuberous sclerosis complex in adults. Br J Dermatol. 2019 Jul 09.

2. Ogorek B, Hamieh L, Lasseter K, Bagwe S, Machado T, Herranz-Ors C, Thorner AR, Nag A, Gulleman P, Giannikou K, Young LR, Pujana MÀ, Darling TN, El-Chemaly S, Moss J, Henske EP, Kwiatkowski DJ. Generalized mosaicism for TSC2 mutation in isolated Lymphangioleiomyomatosis. Eur Respir J. 2019 Jul 04.

3. Kim W, Giannikou K, Dreier JR, Lee S, Tyburczy ME, Silverman EK, Radzikowska E, Wu S, Wu CL, Henske EP, Hunninghake G, Carel H, Roman A, Pujana MA, Moss J, Won S, Kwiatkowski DJ. A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis. Eur Respir J. 2019 Jun; 53(6).

4. Guo R, Berry LD, Aisner DL, Sheren J, Boyle T, Bunn PA, Johnson BE, Kwiatkowski DJ, Drilon A, Sholl LM, Kris MG. MET IHC Is a Poor Screen for MET Amplification or MET Exon 14 Mutations in Lung Adenocarcinomas: Data from a Tri-Institutional Cohort of the Lung Cancer Mutation Consortium. J Thorac Oncol. 2019 Jun 20.

5. Giannikou K, Lasseter KD, Grevelink JM, Tyburczy ME, Dies KA, Zhu Z, Hamieh L, Wollison BM, Thorner AR, Ruoss SJ, Thiele EA, Sahin M, Kwiatkowski DJ. Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med. 2019 Jun 04.

6. Moavero R, Benvenuto A, Emberti Gialloreti L, Siracusano M, Kotulska K, Weschke B, Riney K, Jansen FE, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Borkowska J, Sadowski K, Hertzberg C, Hulshof H, Samueli S, Benova B, Aronica E, Kwiatkowski DJ, Lagae L, Jozwiak S, Curatolo P. Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study. J Clin Med. 2019 Jun 03; 8(6).

7. Treichel AM, Hamieh L, Nathan NR, Tyburczy ME, Wang JA, Oyerinde O, Raiciulescu S, Julien-Williams P, Jones AM, Gopalakrishnan V, Moss J, Kwiatkowski DJ, Darling TN. Phenotypic distinctions between mosaic forms of tuberous sclerosis complex. Genet Med. 2019 May 22.

8. Cho JH, Patel B, Bonala S, Mansouri H, Manne S, Vadrevu SK, Ghouse S, Kung CP, Murphy ME, Astrinidis A, Henske EP, Kwiatkowski DJ, Markiewski MM, Karbowniczek M. The Codon 72 TP53 Polymorphism Contributes to TSC Tumorigenesis through the Notch-Nodal Axis. Mol Cancer Res. 2019 Aug; 17(8):1639-1651.

9. Salussolia CL, Klonowska K, Kwiatkowski DJ, Sahin M. Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. Annu Rev Genomics Hum Genet. 2019 Apr 24.

10. Kim J, Kwiatkowski D, McConkey DJ, Meeks JJ, Freeman SS, Bellmunt J, Getz G, Lerner SP. The Cancer Genome Atlas Expression Subtypes Stratify Response to Checkpoint Inhibition in Advanced Urothelial Cancer and Identify a Subset of Patients with High Survival Probability. Eur Urol. 2019 Jun; 75(6):961-964.