Snehal Patel, M.D., Ph.D.

Snehal Patel, M.D., Ph.D.
Assistant Research Physician
Molecular Diagnostics Section

Team Member of:

Dr. Patel attended Vanderbilt University for his undergraduate studies where he majored in mathematics and biomedical engineering (B.Eng., 2001). Later, he enrolled in the medical scholars program at the University of Illinois at Urbana-Champaign (M.D./Ph.D. - Biochemistry, 2011). He completed his residency in anatomic and clinical pathology (2015) and fellowship in molecular genetic pathology (2016) at the Cedars-Sinai Medical Center. Dr. Patel was selected to be in the clinical scholars program at Cedars-Sinai Medical Center (2015-2016). In October 2016, he joined the Laboratory of Pathology's Molecular Diagnostics Section at the National Cancer Institute as a molecular pathologist. His academic interests are teaching residents and fellows and investigating the role of aberrant splicing in cancer parthenogenesis.

Areas of Expertise
1) biochemistry 2) cell biology 3) pre-mRNA splicing 4) molecular oncology 5) germline cancer genetics 6) cytogenetics

Contact Info

Snehal Patel, M.D., Ph.D.
Center for Cancer Research
National Cancer Institute
Building 10, Room 3S235A
Bethesda, MD 20892-1500
Ph: 301-480-8475

The focus of Dr. Patel's investigations during his graduate studies was to understand how the spliceosomal small nuclear ribonucleoprotein particles (snRNPs) traffic through the nuclear compartment, mature into splicing-competent particles, and are ultimately recruited to their substrate, the pre-mRNA transcript. It had been shown previously that splicing snRNPs were recruited to nascent pre-mRNAs being transcribed from RNA polymerase II transcriptional units of the lampbrush chromosomes in Xenopus laevis oocytes. Dr. Patel showed that the snRNPs were not only recruited but were actively engaged in the splicing of these transcripts at all active RNA polymerase II transcription units. This was one of the first in vivo demonstrations that splicing at least begins co-transcriptionally for most pre-mRNAs in advanced metazoa, a finding with significant implications for alternative splicing and differential gene regulation. Furthermore, he showed that the recruitment of snRNPs to chromosomes could be uncoupled from their role in splicing, which indicated that the initial recruitment of the snRNPs to nascent transcripts was independent of their role in pre-mRNA splicing. Dr. Patel also made the first live observation of lampbrush chromosomes, which was exploited to explore the in vivo kinetics with which cohesin molecules associate with chromatin.

During his residency and fellowship training, Dr. Patel shifted the focus of his research to understanding the molecular genetics of cancer. He explored clonal evolution of primary and metastatic colorectal and lung cancer. These studies corroborated previous work which showed that driver mutations in oncogenes are frequently conserved between primary and metastatic tumors, supporting the idea that they were early events in tumorigenesis. He exploited this finding to distinguish between intrapulmonary metastases and independent primary lung adenocarcionmas using next generation sequencing. Bilateral primary lung cancers are staged separately, whereas a metastasis to the contralateral lung is assigned the highest stage (Stage IV). Thus, the translation of next generation sequencing technology for this clinical use has the potential to impact staging and patient management.

Dr. Patel's current research aims to investigate the mechanisms of aberrant splicing in cancer and its role in tumor development and/or progression using existing data available from large-scale genomics projects. Aberrant splicing has been demonstrated in cancer for single genes and has been shown to be clinically relevant (e.g. drug resistance). Investigations of splicing on a grander scale, however, are in still in their infancy, albeit, rapidly proliferating. Much remains to be learned about how abnormal splicing contributes to disease.


Scientific Focus Areas:
Cancer Biology, Cell Biology, Chromosome Biology, Genetics and Genomics, Molecular Biology and Biochemistry

Selected Key Publications

  1. PATHPrimer: A Comprehensive Web-Based Pathology Resource.
    Patel SB, et al.
    The Netherlands: Elsevier 2016. [ Book ]
  2. Patel SB, Novikova N, and Bellini M.
    J Cell Biol. 178(6): 937-49, 2007. [ Journal Article ]
  3. Patel S, Novikova N, Beenders B, Austin C, Bellini M.
    Chromosome Res. 16(2): 223-32, 2008. [ Journal Article ]
  4. Patel SB, Bellini M.
    Nucleic Acids Res. 36(20): 6482-93, 2008. [ Journal Article ]
  5. Aggarwal N, Pongpruttipan T, Patel SB, Bayer MG, Alkan S, Nathwani B, Surti U, Kitahara S, Chinthammitr Y, Swerdlow SH.
    Am J Surg Pathol. 16: 2015.

Dr. Patel attended Vanderbilt University for his undergraduate studies where he majored in mathematics and biomedical engineering. There, he became fascinated with gene regulation at the level of post- and co-transcriptional mRNA processing in his first college biology class, which led him to pursue a combined degree program at the University of Illinois at Urbana-Champaign. During his medical training, Dr. Patel realized that pathology was an excellent career choice for those interested in integrating basic science and medicine. He entered residency training in anatomic and clinical pathology at the Cedars-Sinai Medical Center, where he became intrigued by molecular pathology in his very first rotation. Dr. Patel recently completed his training as a clinical scholar and a molecular genetic pathology fellow at Cedars-Sinai Medical Center. He joined the Laboratory of Pathology, Molecular Diagnostics Section at the NIH as a molecular pathologist in October of 2016.