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Past and present scholars of Medical Genetics Manipal attending and presenting #ASHG2023, proud of the team and their work Purvi Majethia @thrumybluwindow Prince Jacob Parneet Kaur, PhD KMC Manipal Manipal Academy of Higher Education

Thank you #ASHG23 for a wonderful scientific conference! Heartfelt gratitude to #SERB for international travel support and JSS Academy of Higher Education & Research for giving an oppurtunity to showcase the institute's research work at a place where world class geneticist meet together!

👀60 individuals homozygous for Phe508del (ΔF508) in the new version of gnomAD (v.4.0.0) (~1 in 12,000). Reminder that individuals with CF exist in UKBB (doi.org/10.1101/2023.0…) and pen. estimate in line with Boussaroque et al 2020 (doi.org/10.1016/j.jcf.…) (see graph)

We are looking to add an enthusiastic and committed member to our team. While working with us, the incoming student will be exposed to a variety of in vitro and Drosophila techniques and assays as we investigate the mechanistic basis of this #raredisease. Repost appreciated!

Fifth case report of PRKACA-related skeletal dysplasia onlinelibrary.wiley.com/doi/10.1002/aj…

Running for a cause! To spread awareness about rare diseases! Join us! #Runforrare #ORDI #Racefor7 #Mysuru

Dear all, following vacancies are available at our Department of Medical Genetics, JSS Medical College, Mysore. Interested contacts, kindly apply before 8th June, 2024. Please circulate this among your circle and refer genuine candidates! Thank you! JSS Medical College JSS Academy of Higher Education & Research

Research fellow position available to work on interesting aspects of rare genetic diseases Medical Genetics Manipal KMC Manipal Manipal Academy of Higher Education, please RT

New publication! The bird's eye view of our complete PhD work is finally published! Have a look in the link below: nature.com/articles/s4143…. Grateful to all the authors for the colloborative work! #raredisease #skeletaldysplasia #PhD

Register now for EMBO Practical Course on Genome sequencing, assembly, curation, and downstream analyses, 8 – 12 September 2025 in Florence, Italy ✍️ Abstract submission & registration deadline: 31 May 2025 🔗 meetings.embo.org/event/25-genom… #EMBOgenomeSeq