Trainee Paper Spotlight: February 14, 2017

 

 

Trainee Author: Sureni Mullegama, PhD

ABMGG Clinical Molecular Genetics Fellow

University of California, Los Angeles

(Photo courtesy Dr. Mullegama)

 

Sureni Mullegama et al. Clinical and Molecular Aspects of MBD5-Associated Neurocevelopmental Disorder (MAND). European Journal of Human Genetics, 24, 1235-1243, (2016).

 

This review provides a comprehensive description of the current state of research for a group of disorders recently classified as MBD5-Associated Neurodevelopment Disorder (MAND). MANDs share similar clinical phenotypes and are reported to be caused by deletions, duplications, or pathogenic variants of MBD5, a gene that has been implicated in Autism Spectrum Disorder (ASD) and shares pathways with other ASD-associated genes.

 

Training & Development Committee: Could you describe your research for us?

 

Dr. Mullegama: My research focuses on understanding the genetic etiology and phenotype of rare neurodevelopmental genetic disorders. I have spent many years studying 2q23.1 deletion and duplication syndrome through genotype-phenotype, neural progenitor stem cells, and RNA-seq studies.  Currently, as an ABMGG fellow, my research interests are more translational. I utilize Clinical Exome Sequencing and molecular genetics techniques to help end a patient's diagnostic odyssey.

 

TDC: What are your career goals?

 

Dr. Mullegama: My overall career goal is to become an accomplished and recognized contributor to the field of clinical molecular genetics through my research, contribution to education, and patient care. My immediate plan is to complete, this year, my ABMGG Clinical Molecular Genetics Fellowship and hopefully secure a position in an academic clinical molecular laboratory that is comprised of clinical and translational molecular research, contribution to education, and excellence in patient care.

  

TDC: Why did you choose genetics as your field of study?

 

Dr. Mullegama: The allure of the field of human genetics to me is that it is the one discipline that can explain why we are the way we are. I love puzzles and mystery stories. Many of the individuals I study have unexplained genetic diseases and it is up to me to identify what they have. In that way, I feel like I am solving puzzles/mysteries every day.

 

TDC: Describe yourself in three words.

 

Dr. Mullegama: Compassionate, Driven, Bookworm

 

The Trainee Paper Spotlight is a quarterly feature highlighting outstanding papers written by trainee members of ASHG.

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