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Elizabeth Petri Henske, MD
Associate Physician, Brigham and Women's Hospital
Professor of Medicine, Harvard Medical School

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

Research Location: Karp Childrens Hospital Research Building

Phone: 617-355-9049

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Research Narrative:
Dr. Henske’s primary focus is laboratory-based research, to which she devotes the majority of her effort. Her entire research career has been focused on tuberous sclerosis complex (TSC) and related disorders, including lymphangioleiomyomatosis (LAM) which is caused by TSC2 gene mutations.  Dr. Henske sees patients with TSC and LAM at the Brigham and Women's Hospital, along with a clinical practice in medical oncology at the Dana-Farber Cancer Institute. 
 
Dr. Henske has used human tissue specimens and cultured cells in parallel with mice, flies, and yeast to study TSC. Here laboratory was the first to discover the physical interaction between the TSC1 and TSC2 proteins (Cancer Res 1998) and the first to discover that all three components of angiomyolipomas arise from a common precursor cell (Am J Pathol 2004). She discovered that the sporadic form of LAM is caused by somatic TSC2 mutation (PNAS 2000). She found a distinctive abnormality of amino acid sensing in Tsc1 and Tsc2-deficient S. Pombe (J Biol Chem 2004). She found that the Notch signaling pathway is active in angiomyolipoma-derived cells and that the Notch pathway is activated in Drosophila models of TSC (J Clin Invest 2010).  She discovered that autophagy and the autophagy substrate p62/Sequestosome1 play are critical to the in vivo growth of TSC2-null cells (PNAS 2011), which led to an ongoing Phase I clinical trial of rapamycin and hydroxychloroquine in TSC and LAM patients on which Dr. Henske is the Principal Investigator. 
 

Education:
Harvard Medical School, 1985, MD

Publications (Pulled from Harvard Catalyst Profiles):

1. Tang Y, El-Chemaly S, Taveira-Dasilva A, Goldberg HJ, Bagwe S, Rosas IO, Moss J, Priolo C, Henske EP. Metabolic Changes in Patients With Lymphangioleiomyomatosis Treated With Sirolimus and Hydroxychloroquine. Chest. 2019 Jul 09.

2. Kennedy JC, Khabibullin D, Hougard T, Nijmeh J, Shi W, Henske EP. Loss of FLCN inhibits canonical WNT signaling via TFE3. Hum Mol Genet. 2019 Jul 04.

3. 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.

4. 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).

5. Jones AT, Yang J, Narov K, Henske EP, Sampson JR, Shen MH. Allosteric and ATP-Competitive Inhibitors of mTOR Effectively Suppress Tumor Progression-Associated Epithelial-Mesenchymal Transition in the Kidneys of Tsc2+/- Mice. Neoplasia. 2019 Aug; 21(8):731-739.

6. Boone PM, Scott RM, Marciniak SJ, Henske EP, Raby BA. The Genetics of Pneumothorax. Am J Respir Crit Care Med. 2019 Jun 01; 199(11):1344-1357.

7. 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.

8. Lamattina AM, Poli S, Kidambi P, Bagwe S, Courtwright A, Louis PH, Shrestha S, Stump B, Goldberg HJ, Thiele EA, Rosas I, Henske EP, El-Chemaly S. Serum endostatin levels are associated with diffusion capacity and with tuberous sclerosis- associated lymphangioleiomyomatosis. Orphanet J Rare Dis. 2019 03 29; 14(1):72.

9. Lam HC, Siroky BJ, Henske EP. Renal disease in tuberous sclerosis complex: pathogenesis and therapy. Nat Rev Nephrol. 2018 Nov; 14(11):704-716.

10. Liu HJ, Henske EP. Vitamin D binding protein: a new biomarker of disease severity in lymphangioleiomyomatosis. Eur Respir J. 2018 11; 52(5).