Modeling of rare haematological diseases using iPSCs- Dr. Shaji Velayudhan Shaji R Velayudhan spoke on iPSCs for Fanconi anemia by inducible complementation, investigation of TGFbeta pathway and ferroptosis in disease pathogenesis Manipal Academy of Higher Education CSIR, India SERB DBT/WT India Alliance

#MGU7 Dr. Nampoothiri shared her experience diagnosing and managing Mucopolysaccharidosis type II with enzyme replacement therapy. Manipal Academy of Higher Education Medical Genetics Manipal CSIR, India SERB DBT/WT India Alliance

Dr Perundurai Dhandapany Perundurai talked about his team’s focus on identifying new genes and mechanisms associated with cardiomyopathies, elaborated on hypertrophic cardiomyopathies in Noonan syndrome, and focused on PRKCA gene Manipal Academy of Higher Education CSIR, India SERB DBT/WT India Alliance

Dr Aarti Sevilimedu Aarti Sevilimedu spoke on the zebrafish Fragile X syndrome model for drug screening and FMRP mediated regulation of translation and no. of mitochondria during oogenesis. Manipal Academy of Higher Education Medical Genetics Manipal CSIR, India SERB DBT/WT India Alliance

Dr Sonal Nagarkar Jaiswal spoke on modeling IER3IP1 associated rare neurological syndrome with Drosophila. Its fly ortholog inseparable is required for brain development Manipal Academy of Higher Education Medical Genetics Manipal @CSIR_IN SERB DBT/WT India Alliance

#MGU7 Dr Sanjiban Chakrabarty Sanjiban Chakrabarty talked about genes involved in mitochondrial DNA replication, repair & maintenance pathways egs. POLG, LIG3 involved in rare diseases such as MELAS Manipal Academy of Higher Education Medical Genetics Manipal CSIR, India SERB DBT/WT India Alliance

Investigating vesicular trafficking pathways in Griscelli syndrome - Dr Ravi Manjithaya Ravi Manjithaya Manipal Academy of Higher Education Medical Genetics Manipal CSIR, India SERB DBT/WT India Alliance

#MGU7 Dr. Priyanka Priyanka Upadhyai shared 3 research studies that used drosophila models to study skeletal ciliopathies. Manipal Academy of Higher Education Medical Genetics Manipal CSIR, India SERB DBT/WT India Alliance

#MGU7 Bi-allelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations - Dr Anshika Srivastava Manipal Academy of Higher Education Medical Genetics Manipal CSIR, India SERB DBT/WT India Alliance

#MGU7 The VAPB social network in ALS: A versatile influencer at ER-membrane contact sites by Dr Girish Ratnaparkhi RatnaparkhiLab IISER Pune Manipal Academy of Higher Education Medical Genetics Manipal CSIR, India SERB DBT/WT India Alliance

Modeling a spectrum of early-onset human developmental brain disorders: timing, mechanism, and therapy -Dr Achira Roy Achira Roy Manipal Academy of Higher Education Medical Genetics Manipal CSIR, India SERB DBT/WT India Alliance

#MGU7 Artificial intelligence, Data and clinical genetics by Dr. Meena Agarwal MedGenome Manipal Academy of Higher Education Medical Genetics Manipal CSIR, India SERB DBT/WT India Alliance

#MGU7 Current and innovative therapies in the management of plexiform neurofibromas by Dr Harsha Prasada Harsha Prasada L AstraZeneca India Manipal Academy of Higher Education Medical Genetics Manipal CSIR, India SERB DBT/WT India Alliance

#MGU7 #PrizeDistibution Congratulations to all the winners @MAHE_Manipa Medical Genetics Manipal CSIR, India SERB DBT/WT India Alliance

#MGU7 team whole heartedly thanks all for attending Manipal Genetics Update VII That's all folks. Manipal Academy of Higher Education Medical Genetics Manipal CSIR, India SERB DBT/WT India Alliance