Dear All,
We are pleased to announce Manchester Rare Disease Symposia series. This 4-6 monthly series will highlight recent developments in the field of rare diseases. We hope that in addition to being informative this series will help to link professionals, from diverse backgrounds, who are interested in rare diseases. We intend to have a designated theme for each symposium. The first symposium focuses on Developmental disorders and Malformations. Attached is the programme for the Thursday 13th June.
Please register via the Eventbrite link
10:30 - 10:35 Dr. Siddarth Banka Welcome
10:35 - 10:40 Sir Mike Deegan Launch of Manchester Rare Disease Symposia Series
10:45 - 11:15 Professor Katta Girisha Keynote lecture: Investigation of 600 families with skeletal dysplasias
11:15 - 11:35 Miss Shalini S Nayak Perinatal autopsy in 500 fetuses: lessons learnt
11:35 - 11:55 Dr Anju Shukla Insights from genomic testing of neurodevelopmental disorders: Manipal experience
11:55 - 12:05 Dr Neethukrishna Kausthubham An optimized variant dataset from Indian population to prioritize candidate variants for rare Mendelian disorders
12:05 - 12:30 Dr Hilary Martin Quantifying the contribution of recessive coding variation to developmental disorders
12:30 - 1:30 Lunch
13:30 - 2:00 Prof Bill Newman Personalised Medicine and clinical practice: what it means for patients and healthcare delivery
2:00 - 2:20 Dr Priyanka Upadhyai IFT52 and EXOC6B in primary cilia biology and regulation of skeletal differentiation using in vitro and Drosophila models
2:20 - 2:40 Dr Sara Cuvertino Restricted spectrum of missense KMT2D variants cause a malformation syndrome distinct from Kabuki syndrome
2:40 - 3:00 Dr John McDermott Hypomorphic PCYT2 variants cause a novel recessive complex hereditary spastic paraplegia syndrome
3:00 - 3:15 Prof Bill Newman & Dr Siddarth Banka Closing remarks/ discussion
