Indo-US Symposium on Genetic Neuromuscular Disorders &
Sixth Annual Conference of the Society for Indian Academy of Medical Genetics
(SIAMGCON 2019)
SCIENTIFIC PROGRAM
Theme: Translational Research in Genetic Neuromuscular Disorders: Bench to Bedside & Beyond
21st to 23rd November 2019. Hyderabad, India
| >> Day 1 | >> Day 2 | >> Day 3 | ||
| From the Bench…. | …To the Bedside | & Beyond…… |
Day 1: From the Bench
Molecular Biology and Preclinical Aspects of Genetic Neuromuscular Disorders
| 8.00 am - 9.00 am: Registration |
| Session 1: Molecular Diagnosis of Genetic Neuromuscular Disorders 9 am – 10.30 am Chairpersons: Dr G R Chandak, Dr Girisha KM, Dr Thangaraj |
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| Time | Topic | Speaker |
| 9.00 am – 9.30 am | Molecular diagnostic modalities for genetic neuromuscular disorders | Dr Madhuri Hegde Emory University, USA |
| 9.30 am – 10.00 am | Next generation sequencing for discovery of new causative genes for heritable and mosaic disorders | Dr Leslie Biesecker NHGRI, USA |
| 10.00 am – 10.30 am | The importance of genetic diagnosis for Duchenne muscular dystrophy | Dr Annemieke Aartsma-Rus Leiden University, Netherlands |
| Tea Break 10.30 am - 11.00 am |
| Session 2: Understanding the Pathophysiology of Genetic Neuromuscular Disorders and Identification of Therapeutic Targets 11.00 am – 1.00 pm Chairpersons: Dr Aravind Asokan, Dr Charles Gersbach, Dr Sumita Danda |
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| Time | Topic | Speaker |
| 11.00 am -11.30 am | Cell biology of neuro-muscular disorders: opportunities for discovery of therapeutic avenues | Dr Jyotsna Dhawan CCMB, Hyderabad, India |
| 11.30 am – 12 noon | Insights and advances in muscle Glycogen storage diseases (GSD III, V, and VII) | Dr Priya Kishnani Duke University, USA |
| 12 noon – 12.30 pm | Role of transcriptomics and metabolomics in understanding the pathophysiology of genetic neuromuscular disorders | Dr Madhuri Hegde Emory University, USA |
| 12.30 pm – 1.00 pm | Gaucher Disease: Are all L444Ps Neurological? | Dr Jayesh Sheth FRIGE, Ahmedabad |
| Lunch Break: 1.00 pm – 2.00 pm |
| Session 3: Emerging Diagnostic and Therapeutic Modalities
2.00 pm – 3.00 pm Chairpersons: Dr Meenakshi Bhat, Dr SH Subramony, Dr Koumudi Godbole |
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| Time | Topic | Speaker |
| 2.00 pm – 2.30 pm | Antisense mediated exon skipping for Duchenne muscular dystrophy | Dr Annemieke Aartsma-Rus Leiden University, Netherlands |
| 2.30 pm – 3.00 pm | Next-generation phenotyping using artificial intelligence: uses in the clinic and laboratory | Dr Nicole Fleischer FDNA, USA |
| Dr SS Aggarwal Young Scientist Award Paper Presentation &
Oral Paper Presentations (Case Reports & Case Series Category)
3.00 pm – 4.00 pm Judges: Dr Leslie Biesecker, Dr Shubha Phadke, Dr Sankar VH |
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| Time | Topic | Speaker |
| 3.00 pm– 4.00 pm | (Selection based on review by panel of experts) | |
| Dr SS Aggarwal Young Scientist Award paper presentation (15 mins) | Dr Anusha Uttarilli Bangalore, India | |
| Oral papers – 4 (7 mins for presentation + 2 mins for discussion for each paper) | Dr Dhanya Lakshmi N/
Dr Girisha KM KMC, Manipal Dr Amrita Bhattacherjee/Dr Shagun Aggarwal CDFD & NIMS, Hyderabad Dr Sumita Danda CMC, Vellore Dr Lekshmi Nair/ Dr Prajnya Ranganath NIMS, Hyderabad |
|
| Tea Break 4.00 pm - 4.20 pm |
| Role of the Industry in Molecular Diagnosis and Therapy
4.20 pm – 5.00 pm Chairpersons: Dr Jayesh Sheth, Dr Annie Hasan, Dr Reena Gulati |
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| Time | Topic | Speaker |
| 4.20 pm– 4.40 pm | Critical aspects of increasing diagnostic yield in NGS based genetic testing | Dr Ramprasad V Medgenome Lab, Bengaluru |
| 4.40 pm – 5.00 pm | Hits and misses in Clinical Exome sequencing - Need of WES as first line genomic sequencing? | Dr Divya Agarwal LifeCell Lab, Mumbai |
| Inaugural Function 5.00 pm – 6.00 pm |
| Cultural program and Dinner 7.30 pm – 10.00 pm |
Day 2: To the bedside
Clinical Diagnosis and Management of Genetic Neuromuscular Disorders
| Session 4: Clinical evaluation of genetic neuromuscular disorders
9.00 am – 10.00 am Chairpersons: Dr Subhash Kaul, Dr Kuldeep Singh, Dr Inusha Panigrahi |
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| Time | Topic | Speaker |
| 9.00 am – 9.20 am | Role of muscle and nerve biopsy in the diagnosis of genetic neuromuscular disorders | Dr Megha Uppin NIMS, Hyderabad, India |
| 9.20 am – 9.40 am | Role of electrophysiological studies in the diagnosis of genetic neuromuscular disorders | Dr A K Meena NIMS, Hyderabad, India |
| 9.40 am -10.00 am | Many faces of hereditary sensory autonomic neuropathies | Dr Lokesh Lingappa RCH, Hyderabad, India |
| Dr S S Aggarwal Oration 10.00 am – 11.00 am Oration by Dr Madhuri Hegde, Adjunct Professor, Emory University School of Medicine and Chief Scientific Officer, Perkin Elmer Inc. Topic: 'Integrating Large-Scale "omics" Information into Clinical Practice' Chairpersons: Dr Shubha Phadke, Dr Shrikant Mane |
| Tea Break 11.00 am – 11.30 am |
| Session 5: Practical issues and dilemmas in diagnosis of genetic neuromuscular disorders in the clinic
11.30 am – 1.00 pm Chairpersons: Dr Rashid Merchant, Dr Seema Kapoor, Dr Neerja Gupta |
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| Time | Topic | Speaker |
| 11.30 am – 12.00 noon | Diagnosis of genetic neuromuscular disorders - the Indian scenario | Dr Shubha Phadke SGPGIMS, Lucknow, India |
| 12.00 noon – 12.30 pm | Clinical phenotyping: Importance in directing genetic testing | Dr A Nalini NIMHANS, Bangalore, India |
| 12.30 pm – 1.00 pm | Limb girdle muscular dystrophies in children - a forest with many trees | Dr V Viswanathan KKCTH, Chennai, India |
| Lunch Break: 1.00 pm – 2.00 pm |
| Session 6: Recent therapeutic developments for genetic neuromuscular disorders
2.00 pm – 3.30 pm Chairpersons: Dr JMK Murthy, Dr V Viswanathan, Dr A K Meena |
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| Time | Topic | Speaker |
| 2.00 pm – 2.30 pm | Metabolic manipulation with Pompe disease as prototype | Dr Priya Kishnani Duke University, USA |
| 2.30 pm – 3.00 pm | Recent therapeutic advances for Duchenne muscular dystrophy | Dr Edward C Smith Duke University, USA |
| 3.00 pm – 3.30 pm | Towards treating genetic neuromuscular disorders related to nucleotide expansions (Friedreich ataxia and Myotonic dystrophy) | Dr S H Subramony University of Florida, USA |
| Poster Viewing & Judging Session (Case Reports & Case Series Category) Tea will be served during the session 3.30 pm – 4.30 pm |
| Session 7: Supportive care and genetic counseling
4.30 pm – 6.00 pm Chairpersons: Dr Radha Ramadevi, Dr Sheela Nampoothiri, Dr Kalpana Gowrishankar |
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| Time | Topic | Speaker |
| 4.30 pm – 5.00 pm | Supportive and symptomatic multidisciplinary care for patients with genetic neuromuscular disorders | Dr Edward C Smith Duke University, USA |
| 5.00 pm – 5.30 pm | Genetic counseling for neuromuscular disorders | Ms Stephanie Austin Duke University, USA |
| 5.30 pm – 6.00 pm | Rehabilitation management of neuromuscular disorders | Dr Laura Case Duke University, USA |
| Cultural program and Banquet Dinner 7.30 pm – 10.00 pm |
Day 3: And beyond….
Emerging Therapies for Genetic Neuromuscular Disorders and the Way Forward
| Oral Paper Presentations (Clinical Research & Basic Sciences Category)
8.00 am – 9.00 am Judges: Dr Shrikant Mane, Dr Sheela Nampoothiri, Dr SJ Patil |
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| Time | Topic | Speaker |
| 8.00 am - 9.00 am | Oral papers – 6 (8 mins for presentation + 2 mins for discussion for each paper) | (Selection based on review of submitted abstracts by experts panel) Dr Sameer Bhatia/ Dr Ratna Puri, SGRH, New Delhi. Ms Divya Udyawar. KMC, Manipal. Dr Shagun Aggarwal. NIMS & CDFD, Hyderabad. Dr Shalini Nayak. KMC, Manipal. Dr Sumita Danda. CMC, Vellore. Dr Amrita Bhattacherjee. CDFD, Hyderabad. |
| Session 8: Emerging therapies for genetic neuromuscular disorders
9.00 am – 11.30 am Chairpersons: Dr Priya Kishnani, Dr S J Patil, Dr Mamta Muranjan |
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| Time | Topic | Speaker |
| 9.00 am – 9.30 am | Challenges in translational research in Friedreich ataxia and Myotonic dystrophy | Dr S H Subramony University of Florida, USA |
| 9.30 am 10.00 am | CRISPR gene editing for neuromuscular disorders | Dr Charles Gersbach Duke University, USA |
| 10.00 am – 10.30 am | Recent therapeutic advances for Spinal muscular atrophy | Dr Edward C Smith Duke University, USA |
| 10.30 am – 11.00 am | Engineering viruses for neuromuscular gene therapy | Dr Aravind Asokan Duke University, USA |
| 11.00 am – 11.30 am | What is a diagnosis? Mosaic disorders provide an answer | Dr Leslie Biesecker NHGRI, NIH, USA |
| Poster Viewing & Judging Session (Clinical Research & Basic Sciences Category)
& General Body Meeting of SIAMG Tea will be served during the session 11.30 am – 12.30 pm |
| Dr I C Verma Outstanding Researcher Award Oration by Dr Ratna D Puri, Professor and Chairperson, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi 12.30 pm – 1.30 pm Chairpersons: Dr Shubha Phadke, Dr Girisha KM |
| Lunch Break 1.30 pm – 2.30 pm |
| Session 9: Creation of an Indo-US Consortium on Genetic Neuromuscular Disorders
2.30 pm – 3.20 pm |
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| Time | Topic | Speaker |
| 2.30 pm – 3.20 pm | Panel discussion on: Creation of an Indian and Indo-US Consortium on Genetic Neuromuscular Disorders | Moderator: Dr Sankar VH, SAT, Trivandrum Panelists: Dr Priya Kishnani, Duke University, USA Dr SH Subramony. University of Florida, USA Dr Edward Smith. Duke University, USA Dr Jyotsna Dhawan. CCMB, Hyderabad Dr V Viswanathan. KKCTH, Chennai Dr Naveen Sankhyan. PGIMER, Chandigarh Dr Prajnya Ranganath. NIMS, Hyderabad |
| Session 10: Recent advances in diagnosis and therapy
3.20 pm – 4.00 pm Chairpersons: Dr Ashutosh Halder, Dr Kausik Mandal, Dr Anju Shukla |
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| Time | Topic | Speaker |
| 3.20 pm – 3.40 pm | Utility of exome sequencing in neuromuscular disorders | Dr Gaurav Verma Lal Path Lab, New Delhi |
| 3.40 pm – 4.00 pm | Role of patient support groups in driving therapeutic advances | Dr Arun Shastry DART, Bangalore, India |
| Tea Break 4.00 pm – 4.30 pm |
| Valedictory Function & Prize Distribution 4.30 pm – 5.30 pm |