Positions

Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, US
Vice Chair of Research
Molecular and Human Genetics
Baylor College of Medicine
Chief Scientific Officer
Baylor Genetics
Senior Vice President
Baylor Genetics
Co-Program Director
American Board of Medical Genetics and Genomics (ABMGG) Laboratory Genetics Fellowship, Molecular and Human Genetics
Baylor College of Medicine
Houston, Texas
Member
Dan L Duncan Comprehensive Cancer Center
Baylor College of Medicine
Houston, Texas, United States

Education

Clinical Fellowship at Harvard Medical School, Brigham and Women's Hospital
Fellowship at Hammersmith Hospital, Imperial College
PhD from All India Institute of Medical Sciences
Medical Genetics

Certifications

Clinical Molecular Genetics and Genomics
American Board of Medical Genetics and Genomics
Clinical Cytogenetics and Genomics
American Board of Medical Genetics and Genomics

Professional Statement

My research focuses on the following related areas:

1) Understanding cancer genomes by elucidating various classes of genomic alterations and discovering recurring mutations relevant for pathogenesis: We use whole genome, exome, and transcriptome sequencing to discover recurring mutations that are potentially relevant for Acute Myeloid Leukemia (AML) pathogenesis and to understand clonal diversity and relapse (Cell and Nature 2012; NEJM 2013). Although this information has changed our understanding of the disease, it is not yet clear how to perform optimal genomic testing for each AML patient to improve clinical outcomes. As a proof of concept, we have successfully performed clinical whole genome sequencing on AML patients with diagnostic uncertainty in clinically relevant time-frame to find clinically actionable findings (JAMA 2012). These efforts are being extended to evaluate the clinical utility of genomic sequencing in AML. We are exploring the following projects: A) genome sequencing before and after induction therapy to define the mutational spectrum and clonal architecture of each sample and to precisely define the response to initial therapy; B) RNA-seq to assess the expression of all somatic mutations identified will be performed, to identify expressed fusion genes and to identify dysregulated genes that are not mutated.

2) Developing Standards and Guidelines for the Interpretation of Sequence Variants: One of the major bottlenecks for implementation of individualized genomic medicine is lack of clinical grade genomic knowledgebase to facilitate consistent clinical interpretation of sequence variants. Our group is one of several participating laboratory of a major NHGRI/NIH funded multi-institutional effort called ClinGen (Clinical Genome Resource Program). The purpose of ClinGen (http://clinicalgenome.org) is to create a centralized repository and interconnected resources of clinically relevant variants, which are critically needed by the clinical and research communities. We are expanding the scope of this effort by creating somatic variant expert curation of clinically actionable knowledge. This expert curated variant interpretation somatic variation database which will be housed at publically available NCBI’s ClinVar database.

3) Design and Optimization of Next-Generation Sequencing Technical and Informatics Pipelines for Clinical Laboratory Practice: We are actively involved in defining standards for next generation sequencing in clinical diagnostics in collaboration with the Centers for Disease Control and Prevention through the Clinical Next-Generation-Sequencing Quality Standards National Working Group comprised of key opinion leaders in the field (Nat Biotech 2012, Nat Biotech 2015). Additionally, we are working with Clinical Laboratory Standards Institute’s (www.CLSI.org) professional guidelines committee for whole genome copy number assays for clinical diagnostics. CLSI standards and guidelines are considered as gold standard and are followed by clinical labs nationally and internationally for raising levels of quality, safety, and efficiency in laboratory testing and reporting.

Selected Publications