Program Overview

The DM Medical Genetics program at Kasturba Medical College (KMC), Manipal, was started in 2019. It is a premier superspecialty training program focused on the diagnosis, management, and research of genetic and metabolic disorders. The program integrates clinical services with advanced laboratory diagnostics and research, providing comprehensive training in modern medical genetics.

Current Faculty and Research Leads

The department consists of a multidisciplinary team of clinical geneticists, scientists, and bioinformaticians:

• Dr. Anju Shukla: Professor & HOD (Clinical Genetics)
• Dr. Vivekanand Bhatt: Assistant Professor (Clinical Genetics)
• Dr. Shalini S. Nayak: Scientist (Diagnostics and Fetal Autopsy)
• Dr. Priyanka Upadhyai: Scientist (Human Genetics and Disease Mechanisms)
• Dr. Rama Rao Damerla: Scientist (Cancer Genetics)
• Dr. Sanket Limaye: Scientist (Bioinformatics)

Laboratory Infrastructure

The department maintains state-of-the-art laboratory facilities providing a wide range of genomic and biochemical investigations:

• Cytogenetics: Karyotyping from blood, tissues, chorionic villi (CVS), amniotic fluid, and products of conception (POC).
• Molecular Diagnostics:
  • QF-PCR: Rapid aneuploidy detection in prenatal samples.
  • Sanger Sequencing: Targeted testing for single-gene disorders (e.g., Thalassemia, Sickle Cell Anemia, Achondroplasia).
  • MLPA: Deletion/duplication analysis for DMD, SMA, and microdeletion syndromes.
  • TP-PCR: Specialized for triplet repeat disorders (Myotonic Dystrophy, Huntington Disease, Fragile X).
• Biochemical Genetics: Comprehensive testing for inborn errors of metabolism via TMS, GCMS, and enzyme assays.
• Advanced Genomics: Chromosomal/SNP Microarray and Next-Generation Sequencing (WES and gene panel testing).

Clinical and Prenatal Services

Outpatient and Counseling Services

The department provides expert evaluation and counseling for a broad spectrum of genetic conditions, including neurogenetics and metabolic disorders.

• Genetic Counseling: Detailed pre-test and post-test counseling for families.
• Prenatal Diagnosis:
  • Aneuploidy Screening: Dual, Triple, and Quadruple markers, and NIPS.
  • Fetal Imaging: Ultrasound scanning for fetal malformations.
  • Invasive Procedures: CVS, Amniocentesis, and Cordocentesis.

Fetal Autopsy

The department offers a specialized Fetal Autopsy service, which is instrumental in identifying the cause of fetal malformations and recurrent pregnancy loss, providing families with essential information for future reproductive planning.

Alumni (Session-wise)