Dr. Jayarama S Kadanahalle

Qualifications

PhD, Mysore University
Post-Doctoral Fellowship, University Tennessee Health Science Centre, USA

Research

The laboratory performs conventional and molecular cytogenetic analysis for the diagnosis of genetic disorders prenatally, postnatally and in cancer.

Over the past 14 years, the laboratory has analysed around 28,000 samples, including peripheral blood, skin, amniotic fluid, chorionic villi, cord blood, bone marrow, fine needle aspirates and tissue biopsies.

State-of-the-art technologies are employed to confirm or rule out particular chromosomal abnormalities.

Cytogenetic Approaches

Fluorescence in situ hybridization (FISH)
Primed in situ labelling (PRINS)
Spectral karyotyping (SKY)
Multiplex fluorescence in situ hybridization (mFISH)
mBANDing

Diagnostic Support & Training

The laboratory provides second opinions to other institutions in the diagnosis of difficult genetic and chromosomal disorders.

Regular training courses and workshops are conducted in conventional cytogenetics, FISH and immortalization of cells using the Epstein-Barr virus.

Training and other forms of support have been provided to doctors and laboratory scientists from about 14 hospitals and medical colleges in Karnataka and one institution in Chhattisgarh, supporting the establishment of basic chromosome laboratories.

Workshops & Capacity Building

An average of two hands-on workshops are conducted each year on diagnostic cytogenetics, human cell culture, transformation and cell banking.

Participants have included clinicians, postgraduate students, laboratory personnel from the biotechnology industry and hospital laboratories.

Specialized workshops have also been conducted on prenatal FISH, chromosome breakage syndromes and methods used in the diagnosis of leukemias.

Research Focus

Breakpoint Mapping of Chromosome Translocations

The main focus of the laboratory is breakpoint mapping of apparently balanced chromosome translocations in families with abnormal phenotypes.

Mapping breakpoints in disease-associated, apparently balanced chromosome rearrangements can aid in identifying disease genes and provide a shortcut for detecting genes involved in genetic disorders.

In many cases, the phenotype is caused by disruption or deletion of one or more genes in the breakpoint region. Molecular characterization of chromosomal breakpoints in disease-associated balanced translocations has contributed to the elucidation of hereditary diseases and the definition of candidate breakpoints.

Examples described in the laboratory's work include nail-patella syndrome, Prader-Willi syndrome, Schmidt syndrome, ataxia and ulna aplasia.

A notable example is the characterization of the BCR-ABL fusion protein associated with the (9;22) translocation in chronic myeloid leukaemia.

Selected Publications

Pre- and postnatal diagnosis of 5q35.1 and 8p23.1 deletion in congenital heart disease. Indian Journal of Pediatrics, 83: 1484–1485, 2016.
Shetty M, Srikanth A, Kulshreshtha P, Kadandale J, Hegde S.
Goldenhar syndrome. International Journal of Anatomy and Research, 4: 2076–2079, 2016.
R Lakshmi PS, Anupama D, Bhat M, Kadandale J, Harshal KL.
Next-generation sequencing reveals novel mutations in X-linked intellectual disability. OMICS, 21: 295–303, 2017.
Muthusamy B, Selvan LDN, Nguyen TT, Manoj J, Stawiski EW, Jaiswal BS, Wang W, Raja R, Ramprasad VL, Gupta R, Murugan S, Kadandale JS, Prasad TSK, Reddy K, Peterson A, Pandey A, Seshagiri S, Girimaji SC, Gowda H.
Clinical and molecular characterization of Prader-Willi syndrome. Indian Journal of Pediatrics, 84: 815–821, 2017.
Sanjeeva GN, Maganthi M, Kodishala H, Marol RKR, Kulshreshtha PS, Lorenzetto E, Kadandale JS, Hladnik U, Raghupathy, Bhat M.
Analysis of complex chromosomal abnormalities in a case of multiple myeloma using spectral karyotyping. Asian Journal of Pharmaceutical and Clinical Research, 11: 9–11, 2018.
Govindasamy P, Kulshrestha PS, Pandurangan P, Tarigopula A, Kadandale J, Samuel CR.