Madhuri Hegde, PhD, FACMG
The focus of my 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 high-throughput sequencing strategies for rare disorders using sequence capture technologies, robotics, next generation sequencing, oligonucleotide array platforms, robotics and using predictive analysis tools and biological testing. My research is focused on functional analysis of sequence variants in disease associated genes specifically mental retardation 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. We are also interested in identifying novel genes in these diseases using next generation tools and a laboratory developed bridged approach to whole exome sequencing. An understanding of the important changes will eventually provide an opportunity to improve the early detection of disease, and to target more effective treatment.
Areas of Specialization / Research Interests
Novel and high throughput methodologies to detect sequence variation
B.Sc University of Bombay, India
M.Sc University of Bombay, India
Ph.D. University of Auckland, New Zealand
Post doc Baylor College of Medicine
FACMG (Clinical Molecular Genetics)
- Marwan K.
Tayeh, Lip-Hon Chin, Vanessa R. Miller, Lora JH. Bean, Bradford Coffee, Madhuri Hegde. Microarray based testing for
single and multi- exon deletion or duplication mutations. Genet Med. 2009 Apr;11(4):232-40.
- TM, Jenkins G, Pati D, Zhang L, Dolan ME, Ribes-Zamora A, Bertuch AA, Blaney
SM, Delaney SL, Hegde M, Berg SL. Poly(ADP-ribose) polymerase inhibitor ABT-888
potentiates the cytotoxic activity of temozolomide in leukemia cells: influence
of mismatch repair status and O6-methylguanine-DNA methyltransferase activity. Mol Cancer Ther. 2009 Aug;8(8):2232-42. Epub
2009 Aug 11.
SV, Singh RK, Hegde M, Urtizberea A, Love DR, Chong B Spectrum of mutations in
sarcoglycan genes in the Mumbai region of western India: high prevalence of
525del T. .Neurol India. 2009
- Mulle JG,
Patel VC, Warren ST, Hedge MR,
Cutler DJ, Zwick ME, Empirical evaluation of probe selection for DNA
microarrays. PLoS One. 2010 Mar
- Askree, Syed Hussain Mehdi; Hjelm, L Nick; Pervaiz, Muhammad A; Adam Margaret;
Bean, Lora H; Hegde, Madhuri; Coffee, Brad. Allelic Dropout Can Cause
False-Positive Results for Prader-Willi and Angelman Syndrome Testing. J Mol
Diagnostics. In press.
- Hjelm, L Nick; Chin, Ephrem Lip Hon; Hegde, Madhuri; Coffee, Brad; Bean,
Lora H. A Simple Method to Confirm and Size Deletion, Duplication, and
Insertion Mutations Detected by Sequence Analysis. J Mol Diagnostics. In press.
- Patrick Yu-Wai-Man, Suma P. Shankar, Valerie Biousse, Neil R. Miller,
Bean, Bradford Coffee, Madhuri Hegde, Nancy J. Newman. Genetic Screening for
OPA1 and OPA3 Mutations in Patients with Suspected. Inherited Optic
Neuropathies. Journal of Opthalmology.