Indo-US Symposium on Genetic Neuromuscular Disorders &
Sixth Annual Conference of the Society for Indian Academy of Medical Genetics
(SIAMGCON 2019)
POST CONFERENCE WORKSHOP
"Decoding Genetic Investigations:
Interpretation of NGS and other Genetic Tests in the Clinical Setting"
24th November, 2019
Venue: Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India
Organized by: Department of Medical Genetics, Nizam's Institute of Medical Sciences (NIMS), Hyderabad &
Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad
PROGRAM
Time | Session | Speaker | Learning Objectives |
9.00-9.30 | Registration | ||
9.30 am-10.30 am | Session 1- Pedigree Drawing and Patterns of Inheritance | ||
9.30 am – 9.50 am | Autosomal dominant inheritance | Dr Ashwin Dalal | Pedigrees and principles of AD inheritance; case scenarios elucidating principles of reduced penetrance and variable expressivity |
9.50 am – 10.10 am | Autosomal recessive inheritance | Dr Shubha Phadke | Pedigrees and principles of AR inheritance; case scenarios elucidating principles of pseudodominance, double heterozygosity, compound heterozygosity, role of consanguinity and digenic inheritance |
10.10 am – 10.30 am | X-linked inheritance | Dr Shagun Aggarwal | Pedigrees and principles of X-linked inheritance; mechanisms for manifestations in female carriers; case scenarios highlighting X-linked recessive vs semi-dominant vs dominant patterns |
10.30 am – 10.50 am: Tea Break | |||
10.50 am-12.10 pm | Session 2- Common Monogenic Diseases | ||
10.50 am – 11.10 am | Beta Thalassemia | Dr Prajnya Ranganath | Targeted testing for common mutations and Sanger sequencing of single gene; prenatal testing (along with maternal cell contamination testing); carrier screening in the population |
11.10 am – 11.30 am | Duchenne muscular dystrophy | Dr Koumudi Godbole | Utility of genetic testing, MLPA for exonic deletions/ duplications; testing for MLPA-negative patients; carrier screening; prenatal genetic testing |
11.30 am – 11.50 am | Fragile X syndrome | Dr Dhanya Lakshmi N | Tests for trinucleotide repeat expansion; issues related to counseling of family members; testing for premutation status (for premature ovarian failure and Fragile X tremor ataxia syndrome) |
11.50 pm – 12.10 pm | Spinal muscular atrophy | Dr Chaitanya Datar | Genetic testing technique; utility of genetic testing including determination of copy numbers of SMN2 for targeted therapies; carrier screening of family and general population |
12.10 pm- 1.30 pm | Session 3- Conventional and Molecular Cytogenetics | ||
12.10 pm – 12.30 pm | Trisomy 21 | Dr Shagun Agarwal | Case scenarios of free trisomy, translocation, and mosaicism; prenatal screening options for Down syndrome; prenatal testing for Down syndrome |
12.30 pm – 12.50 pm | Chromosomal rearrangements in recurrent pregnancy losses/ fetal anomalies | Dr Meenal Aggarwal | Issues in counseling of couple and in prenatal testing; further evaluation and counseling related to identification of 'apparently balanced' translocation in fetus; further evaluation and counseling related to incidentally detected chromosomal rearrangement in fetus |
12.50 pm – 1.10 pm | Multiplex ligation-dependent probe amplification (MLPA) – for microdeletion/ microduplication syndromes | Dr Kausik Mandal | Technique of MLPA; analysis and interpretation; representative case scenarios; Methylation-specific (MS MLPA) |
1.10 pm – 1.30 pm | Chromosomal Microarray | Dr Shubha Phadke | Interpretation of CMA results; representative case scenarios; significance of LOH; copy number variants of uncertain significance; utility in prenatal scenario |
1.30 pm-2.30 pm: Lunch | |||
2.30 pm -4.10 pm | Session 4- Next Generation Sequencing | ||
2.30 pm – 2.50 pm | Next generation sequencing technique | Dr Karthik Bharadwaj | Variant filtering, software used for analysis |
2.50 pm – 3.10 pm | NGS- Large gene/ Multigene panel testing | Dr Anju Shukla | Utility for large gene sequencing versus Sanger sequencing; case scenarios |
3.10 pm – 3.30 pm | NGS- Clinical Exome Sequencing | Dr Sheetal Sharda | Utility; case scenarios; limitations |
3.30 pm – 3.50 pm | NGS- Whole Exome Sequencing | Dr Girisha KM | Utility in diagnostics; novel genes; variants of uncertain significance; limitations |
3.50 pm – 4.10 pm | NGS - Whole Genome Sequencing | Dr Ashwin Dalal | Utility in diagnostics and research; intronic variants; limitations |
4.10 pm-4.30 pm: Tea break | |||
4.30-5.30 | Interactive Quiz | Dr Prajnya Ranganath | Experts: Dr Shubha Phadke, Dr Girisha KM, Dr Ashwin Dalal |