Madhuri R. Hegde, Ph.D.
Assistant Professor
Director, Emory Genetics Laboratory, Molecular Laboratory
mhegde@genetics.emory.edu
404.727.3863

Areas of Specialization/Research Interests:
Muscular Dystrophy
Inherited colorectal Cancer
Novel and high throughput methodologies to detect sequence variation

Education:
2000-2003    Post-doctoral Fellow, Baylor College of Medicine, Houston, TX
1999             Ph.D. University of Auckland, New Zealand
1992             M.Sc. University of Bombay, India
1988             B.Sc. University of Bombay, India

Research Description:
The focus of the laboratory is to develop and perform comprehensive mutation analysis and interpretation for complex or challenging genetic disorders using multiple approaches. The primary focus of my clinical work is the development of a high-throughput sequencing assays for rare disorders using robotics, automated sequence platforms, oligonucleotide array platforms, robotics and using predictive analysis tools and biological testing.   My research is focused on functional analysis of sequence variants in inherited colon cancers and Muscular Dystrophies and translating what is learned in the basic research laboratory to clinical practice.  The ultimate goal is to create an algorithm that will be clinically useful for interpretation of novel sequence variants. Additionally, I have an interest in identifying novel genes in these diseases.  An understanding of the important changes will eventually provide an opportunity to improve the early detection of disease, and to target more effective treatment.  

Selected Publications:
Khadilkar SV, Menezes KM, Singh RK, Hegde MR . Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea. Neurol India. 2006 Sep;54(3):293-5.

Ionescu DN, Papachristou G, Schoen RE, Hedge M, Richards CS, Monzon FA. Attenuated familial adenomatous polyposis: a case report with mixed features and review of genotype-phenotype correlation. Arch Pathol Lab Med. 2005 Nov;129(11):1401-4.

Hegde M , Blazo M, Chong B, Prior T, Richards C. Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6. J Mol Diagn. 2005 Oct; 7(4):525-34.

Hegde MR , Chong B, Blazo ME, Chin LH, Ward PA, Chintagumpala MM, Kim JY, Plon SE, Richards CS. A homozygous mutation in MSH6 causes Turcot syndrome. Clin Cancer Res. 2005 Jul 1;11(13):4689-93.

Roberto Mendoza-Londono, Edward Lammer , Rosemarie Watson , John Harper, Atsushi Hatamochi , Saori Hatamochi , Dobrawa Napierala , Pia Hermanns , Sinead Collins , Benjamin B. Roa , Madhuri R. Hedge , Keiko Wakui , Diep Nguyen , David W. Stockton , Brendan Lee. Characterization of a new syndrome associating craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus and skin eruption- CDAGS. Am J Hum Genet. 2005 Jul;77(1):161-8. Epub 2005 May 27.