Dr. Hitesh Kumar Bhattarai

Department: School of Science/ Biotechnology

Desgnation: Assistant Professor

Topic:  “Development of Comprehensive Molecular Diagnostics for Diseases in Nepal”

Project Description: 

Nepal is far behind other developed countries in molecular diagnosis of diseases due to its poor diagnostic infrastructure, technology and human resources. Although basic diagnostic techniques such as X-ray, CT scan, MRI, ECG, biochemical assays etc. are commonly available in different corners of the country, molecular tests, necessary for the diagnosis of several common diseases, are limited except for a very few diseases.

So far, Real Time PCR methods have been used to detect the nucleic acid content of SARS-CoV-2. Before COVID-19 pandemic, nucleic acid detection method was routinely used for tuberculosis detection using GeneXpert. Although RT-qPCR and nucleic acid detection methods can be used to detect and quantitate many other microbial pathogens, the hospitals and diagnostic centers in Nepal have not been able to provide services to the people. Due to poor diagnostic services, people are obliged to go abroad for treatment or outsource test samples to International Molecular Diagnostic laboratories. While the rich can afford expensive tests and treatments, the low-income people, especially those from the rural areas of Nepal, are left with their diseases remaining undiagnosed and untreated.

Molecular diagnostics, including RT-qPCR, Sanger sequencing and next generation sequencing is used in several disease area such as molecular microbiology, genetics, solid tumor genomics, genetic aspect of hematopoietic malignancies, circulating tumor cells, prenatal diagnosis, pharmacogenetics and identity testing. Many monogenetic diseases are diagnosed and confirmed using sequencing. Common diseases like cystic fibrosis and sickle cell anemia and rare diseases, which have been characterized earlier can be confirmed by Sanger sequencing. Other rarer diseases can be diagnosed using exome or whole genome sequencing. Panel sequencing is also important in these cases. Furthermore, application of molecular diagnostics is found in solid and liquid cancers, fetal abnormality screens, circulating tumor cell detection, prenatal diagnosis and pharmacogenetics.

 

Objectives:

  • Build a comprehensive molecular diagnostics program to characterize diseases in Nepal.
  • Adapting RT-qPCR, Sanger sequencing and next generation sequencing assays to diseases in Nepal.

 

Expected Impacts: 

  • Molecular diagnosis of common diseases in Nepal
  • Diagnostic tests in Nepal minimize reporting time and facilitate early medical interventions
  • Utilization of KU IRDP/NTIC medical equipment (Real time PCR, DNA Extractor, Gene Sequencer) for improving the health of Nepalese people
  • Special focus on rural health care (Bridging NTIC’s high technology lab to the rural communities of Nepal)
  • Production of technical manpower in medical diagnostic field