Arupa Ganguly, Ph.D

faculty photo
Professor of Genetics at the Hospital of the University of Pennsylvania
Director, Genetic Diagnostic Laboratory, University of Pennsylvania
Department: Genetics
Graduate Group Affiliations

Contact information
415 Anatomy Chemistry Building
3620 Hamilton Walk
Philadelphia, PA 19104
Office: 215-898-3122
Fax: 215-573-5940
Lab: 215-573-3020
B.S. (Physics)
Calcutta University, 1974.
M.S. (Physics)
Calcutta University, 1977.
Ph.D. (Biophysics)
University of Calcutta, 1984.
FACMG (Clinical Molecular Genetics)
American Board of Medical Genetics, 1999.
FACMG (Clinical Molecular Genetics)
American Board of Medical Genetics, 2009.
Permanent link
> Perelman School of Medicine   > Faculty   > Details

Description of Research Expertise

Genetic Analysis of Predisposition to Retinoblastoma and Uveal Melanoma

Retinoblastoma is a childhood onset ocular cancer caused by mutations in tumor suppressor gene, RB1, present on chromosome 13.
RB1 was the first tumor suppressor gene identified and validated the two hit hypothesis of cancer proposed by Alfred Knudson. The burden of lost eye sight in early childhood is very high with this disease – it has been reduced remarkably in the developed countries, but still is a major concern in developing countries.
Thus there is a need to reduce the burden of blindness by developing treatment modality that will spare the infant eye and vision.

An interesting aspect of RB1 is that this gene is inactivated in half of all known cancer. Yet an individual born with a germline mutation in RB1 gene is predisposed to childhood onset eye tumor and a second cancer that can be osteosarcoma if exposed to radiation or melanoma. This means that the RB1 gene product has a very specific role in the development of the retina – a role that is not shared by other tissues.
However the cell of origin of retinoblastoma is not known. Therefore by studying the gene expression profile of enucleated retinoblastoma tumors we are attempting to answer a few clinical questions like the clinical response to different treatment options, potential for metastasis and molecular basis of other predictive clinical features. In addition we are trying to identify the expression profiles of genes characteristic of the progenitor cells for retina and define at which stage of retinal cell development does the process of tumorigenesis begin.

Another recent direction of research is in defining the molecular basis of uveal melanoma. Uveal melanoma is a rare form of ocular cancer in the Western world and the incidence rate is 1 in 100, 000. A significant observation is that almost half of all identified cases of uveal melanoma develop liver metastasis and die within a very short period after the initial diagnosis. Thus it is a major health care issue. The only prognostic features available at this time are monosomy for chromosome 3 along with alterations on chromosomes 1, 6 and 8 and are associated with bad prognosis. These features suggest an underlying genetic predisposition towards melanomas. Uveal melanoma can be mistaken for congenital nevi and may be undiagnosed or under diagnosed. The goals of this project are: i) To develop a gene signature that will be predictors of metastasis based on investigations on fine needle aspirates. ii) To understand the molecular mechanisms regulating the development of uveal melanomas.

Description of Clinical Expertise

As the Director of the Genetic Diagnostic laboratory, Department of Genetics, I provide clinical molecular genetic testing services for hereditary forms of colon cancer, Li Fraumeni syndrome,Retinoblastoma(RB) and molecular profiling of sporadic uveal mealnoma, Hemophilia A, and Herediatry Hemorrhagic Telangiectasia (HHT or Osler Weber Rendu Syndrome). This laboratory is a reference laboratory for testing RB, HHT and Hemophilia A in the US.
This laboratory is also an ABMG accredited laboratory for training clinical molecular genetics fellows.

In addition, I am involved in a collaboration with Dr, Charles Stanley, Children's Hospital of Philadelphia, to undertsand the molecular genetics of congenital hyperinsulinism (CHI). We have recently identified a novel genomic region linked to autosomal dominant inheritance of CHI.

Selected Publications

Mazloumi Mehdi, Vichitvejpaisal Pornpattana, Dalvin Lauren A, Yaghy Antonio, Ewens Kathryn G, Ganguly Arupa, Shields Carol L: Accuracy of The Cancer Genome Atlas Classification vs American Joint Committee on Cancer Classification for Prediction of Metastasis in Patients With Uveal Melanoma. JAMA ophthalmology Page: Epub, Jan 2020.

Rosenfeld Elizabeth, Ganguly Arupa, De Leon Diva D: Congenital hyperinsulinism disorders: Genetic and clinical characteristics. American journal of medical genetics. Part C, Seminars in medical genetics 181(4): 682-692, 12 2019.

Shields Carol L, Dalvin Lauren A, Vichitvejpaisal Pornpattana, Mazloumi Mehdi, Ganguly Arupa, Shields Jerry A: Prognostication of uveal melanoma is simple and highly predictive using The Cancer Genome Atlas (TCGA) classification: A review. Indian journal of ophthalmology 67(12): 1959-1963, 12 2019.

Lalonde Emilie, Ebrahimzadeh Jessica, Rafferty Keith, Richards-Yutz Jennifer, Grant Richard, Toorens Erik, Marie Rosado Jennifer, Schindewolf Erica, Ganguly Tapan, Kalish Jennifer M, Deardorff Matthew A, Ganguly Arupa: Molecular diagnosis of somatic overgrowth conditions: A single-center experience. Molecular genetics & genomic medicine 7(3): e536, 03 2019.

Vichitvejpaisal Pornpattana, Dalvin Lauren A, Mazloumi Mehdi, Ewens Kathryn G, Ganguly Arupa, Shields Carol L: Genetic Analysis of Uveal Melanoma in 658 Patients Using the Cancer Genome Atlas Classification of Uveal Melanoma as A, B, C, and D. Ophthalmology 126(10): 1445-1453, 10 2019.

Cohen Jennifer L, Duffy Kelly A, Sajorda Brian J, Hathaway Evan R, Gonzalez-Gandolfi Christina X, Richards-Yutz Jennifer, Gunter Andrew T, Ganguly Arupa, Kaplan Julie, Deardorff Matthew A, Kalish Jennifer M: Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome. American journal of medical genetics. Part A 179(7): 1139-1147, 07 2019.

Sheppard Sarah E, Lalonde Emilie, Adzick N Scott, Beck Anita E, Bhatti Tricia, De Leon Diva D, Duffy Kelly A, Ganguly Arupa, Hathaway Evan, Ji Jianling, Linn Rebecca, Lord Katherine, Randolph Linda M, Sajorda Brian, States Lisa, Conlin Laura K, Kalish Jennifer M: Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management. Genetics in medicine : official journal of the American College of Medical Genetics 21(11): 2644-2649, 11 2019.

Boodhansingh Kara E, Kandasamy Balamurugan, Mitteer Lauren, Givler Stephanie, De Leon Diva D, Shyng Show-Ling, Ganguly Arupa, Stanley Charles A: Novel dominant K channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping. American journal of medical genetics. Part A 179(11): 2214-2227, 11 2019.

Duffy Kelly A, Cielo Christopher M, Cohen Jennifer L, Gonzalez-Gandolfi Christina X, Griff Jessica R, Hathaway Evan R, Kupa Jonida, Taylor Jesse A, Wang Kathleen H, Ganguly Arupa, Deardorff Matthew A, Kalish Jennifer M: Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management. American journal of medical genetics. Part C, Seminars in medical genetics 181(4): 693-708, 12 2019.

Ewens K G, Lalonde E, Richards-Yutz J, Shields C L, Ganguly A: Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma. BMC cancer 18(1): 1172, Nov 2018.

back to top
Last updated: 03/26/2020
The Trustees of the University of Pennsylvania