Research & Development is one of the most important aspects of progress. Genome Foundation wants to help scientists and researchers unlock their potential and grow exponentially. We offer the most comprehensive and most accurate molecular diagnostic and genomic services at affordable costs.

Genome Foundation

Research Projects:

The following projects are completed already:

  • Epidemiological Study of various common hereditary disorders, at Kalwari, Jaunpur, U.P.
  • Epidemic of childhood obesity, its prevalence, genetics of pathways regulating body weight its control through natural tribal resources, State S&T Program Dept. of Science & Technology Govt. of India.
  • Effect of Malnutrition on cognitive development of Tribal children of Eastern Uttar Pradesh with special reference to psychosomatic Constitution, State S&T Program, Dept. of science & Technology Govt. of India.
  • Micro profiling of Beta Thalassemia mutations in Telangana population. To map mutation profile of Beta Thalassemia, dreadful blood disorder in the region to aid prenatal diagnosis and prevention.
  • Whole Genome Association Study in High-Risk Indian Population by identifying vulnerable population for suicide via genetic association analysis in bringing into academic and administrative forum, the importance of suicide as a disease and its biological basis.

Research Publications:

  • “Identification of c.286C>T mutation in the SLURP1 gene in a patient with Mal de Meleda from India” by V. R. Rao & Ms. Gargi Deshmukh [Polymorphism, 2023].
  • “Artificial Intelligence in Cardiac Topographic Ultrasonographic Screening: The Journey to Gitam SHK Probe (Shishu Hridya Kavach)” by G. V. V. S. Kanaka Bhushanam & others [EC Cardiology SI.02 (2020)].
  • “D190Y mutation in C-terminal tail region of TNNI3 gene causing severe form of restrictive cardiomyopathy with mild hypertrophy in an Indian patient” by V. R. Rao & others [Meta Gene, 2020].
  • “Identification and Development of a High-Risk District Model in the Prevention of β-Thalassemia in Telangana State, India” by V. R. Rao & others [Hemoglobin, 2020].
  • “Re-testing reported significant SNPs related to suicide in a historical high - risk isolated population from north east India” by V. R. Rao & others [Hereditas, 2020].
  • “Mutation Analysis of MTHFR Gene in Indian Women with Unexplained Recurrent Miscarriages; Folic Acid Supplementation Improves Pregnancy Outcomes” by Nalini. J. Gupta & others [Amer Journal of Stem Cells, 2019].
  • “Development and Characterization of Hematopoietic Stem Cells from Human Embryonic Stem Cells” by Nalini. J. Gupta & others [Journal of Stem Cells, 2019].
  • “NR5A1 mutations are not associated with male infertility in Indian men” by Nalini. J. Gupta & others [Andrologia, 2018].
  • “Familial Hypertrophic Cardiomyopathy - Identification of cause and risk stratification through exome sequencing” by V. R. Rao & others [Gene, 2018].
  • “Explaining Suicide attempt with Personality traits of Aggression and Impulsivity in a High-Risk Tribal Population of India” by V. R. Rao & others [PLoS One, 2018].
  • “Attitudes and beliefs among high- and low-risk population groups towards ß-thalassemia prevention: a cross-sectional descriptive study from India” by V. R. Rao & others [J Community Genet, 2017].
  • “Mutations in hot spot region of MYH7 gene exon 23 associated with restrictive cardiomyopathy” by V. R. Rao & others [Cardiogenetics].
  • “Metallomic Biomarkers in Cerebrospinal fluid and Serum in patients with Parkinson’s disease in Indian population” by V. R. Rao & others [Scientific Reports.Sci Rep., 2016]
  • “Highly stratified population sickle cell frequencies and prevention in India” by V. R. Rao & others [Human Biology Review].

Research work in-progress:

  • Evaluation of variants with clinical potential to predict tumor metastasis and drug resistance in Triple Negative Breast Cancer (TNBC) in collaboration with Osmania University, KIMS Hospital, Basavatarakam Cancer Hospital, Hyderabad and Mahatma Gandhi Cancer Hospital, Vishakhapatnam.
  • Screening and identification of pathogenic gene variants for Autism Spectral Disorder (ASD) in India in collaboration with KIMS Hospital.

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