Special Interest Group on Human Genomics & Rare Disorders

Special Interest Group on Human Genomics & Rare Disorders consists of people who belong to different disciplines from basic science, preclinical to clinical departments and have a passion for the field of genetics. This group works in the areas of (a) Human Genetics and Genomics (b) Rare Inherited Disorders (c) Pharmacogenomics and (d) Metabolic disorders. The group aims to

• Facilitate early diagnosis, counseling, and management of rare disorders
• Prepare SOPs that facilitates a multidisciplinary approach to any genetic disorders
• Organize symposia/workshops/seminars
• Conduct collaborative research projects
• Promote research activities among group members through group discussion and expert advice
• Work together towards establishing a biobank to store clinical specimens of rare inherited disorders.

The group has established Cytogenetics Laboratory at JSS Hospital with state-of-the-art equipment and facilities to cater to the diagnostic needs of the patients in and around the Mysuru district by performing

• Karyotyping to diagnose birth defects, genetic anomalies, mental retardation, neurological and muscular problems, bad obstetric history, infertility, amenorrhea, ambiguous genitalia any other conditions with a familial basis.
• Fluorescent In-situ Hybridization (FISH) on blood, cord blood, and amniotic fluid for prenatal genetic studies to diagnose syndromes like Down syndrome, Edward's syndrome, Patau syndrome, Klinefelter syndrome, and Turner syndrome,
• FISH - BCR/ABL1 for hematological malignancies
• HER2/neu tissue FISH for breast cancer patients.

Newborn screening to detect common treatable metabolic errors and maternal serum screening for the detection of fetal aneuploidy initiated by this group since 2019 has helped several families to date.