Dr. Stephanie Bielas Awarded NIH Global Brain and Nervous System Disorders Grant

The UMMS-India partnership of Drs. Stephanie Bielas (shown at right) and Katta Mohan Girisha received notice of award for their grant application submitted under the NIH “Global Brain and Nervous System Disorders Research Across the Lifespan Funding Opportunity.“ Dr. Bielas, who is Assistant Professor of Human Genetics, Neuroscience, and Cell and Molecular Biology at the University of Michigan, will serve as PI for this exploratory/developmental research grant, while Dr. Girisha will serve as Co-PI.  Dr. Girisha is Professor and Head, Department of Medical Genetics, Kasturba Medical College, Manipal University (MU), Manipal, Udupi, Karnataka, India. Grant funding of $341K will be split equally between UM and MU throughout the grant period, which runs 9/1/2015 to  8/31/2017.

The investigators believe that improvements in health care have led to a decrease in mortality (including and especially among children) and an increase in life expectancy in LMICs over the past several decades. These positive trends have set the stage for a complex and paradoxical epidemiology of health and disease as more children survive into adulthood and are affected by the sequelae of combined early disorders, malnutrition, and adverse experiences. They propose to address the genetic causes of neurodevelopmental disorders by providing more genetic diagnoses to/for children and their families in an effort to reduce the global burden of inherited developmental disorders.

The goal of this project is to build infrastructure that will allow whole exome sequencing (WES) to be used in the Department of Medical Genetics at MU to identify genetic causes of neurodevelopmental disorders. Infrastructure to achieve this goal include identifying quality sequencing partners, establishing bioinformatics analysis tools to optimize the use of WES data for research and clinical applications, and educating medical genetics professional regarding the indications for WES and interpretation of results.

BACKGROUND:

  • The significant healthcare burden of genetic disorders in India is enormous due to its high birth rate, consanguineous marriages, and widespread occurrence of genetic diseases.
  • A recent NIH study revealed that 14.7% of Indian children ages 2-9 years had one or more neurodevelopmental disorders as compared to the 3-8% observed in the US and Europe.
  • Defining the genetic cause of an inherited condition is important in the prevention of inherited disorders.
  • Whole exome sequencing (WES) has risen to the forefront of genetic testing in HMICs and the World Health Organization recently recommended the use of community genetics to combat the high burden of inherited disorders at the population level in LMICs

Visit Dr. Bielas' laboratory website here.