Assistant Professor l Medical Genetics
Mysore
Joined October 2012
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Pinned Tweet
nature.com/articles/s41525-0…
Grateful! New publication! Do have a read! There's a story (thread below) behind every scientific publication a PhD student works on, and this one is special. Grateful to my mentors and institute! @girishakatta @hiteshshah1 #ProfGrigelioniene @kmc_manipal
Prince Jacob retweeted
SAVE THE DATE! 04/14/26 for our Genetics Clinical Grand Rounds at 10:15am, Dr. Prince Jacob, PhD presenting: " From Exome Sequencing Reanalysis to Multi-Omics Approaches: Elucidating Unresolved Mendelian Disorders in an Indian Cohort."
Link below...
medicine.yale.edu/event/genc…
Prince Jacob retweeted
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-g… #EMBOgenomeSeq
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/s41431-0….
Grateful to all the authors for the colloborative work!
#raredisease #skeletaldysplasia #PhD
There is no greater joy for a teacher than to see the growth of their students and to do research work together as a team that impacts lives!
We had a great opportunity to present our work on rare diseases at ORAH National conference, Thrissur.
#raredisease #neurodevelopmental
We strive to improve the molecular diagnosis of these rare souls.
We thank the organizers, Jubilee Centre for Medical Research, Thrissur for providing us with the travel and accommodation grant. Special thanks to Dr Deepa Bhat for giving us an opportunity to collaborate
Our sincere gratitude to Dr. AKILA Prashant, JSS Medical College, Mysore and JSS Academy of Higher Education & Research for providing us the facilities and conducive research environment.
#raredisease #neurodevelopmental #OMICS #researchforlife #JSSAHER #JCMR
Prince Jacob retweeted
Research fellow position available to work on interesting aspects of rare genetic diseases @GeneticsManipal @kmc_manipal @MAHE_Manipal, please RT
Running for a cause! To spread awareness about rare diseases! Join us!
#Runforrare #ORDI #Racefor7 #Mysuru
Fifth case report of PRKACA-related skeletal dysplasia
onlinelibrary.wiley.com/doi/…
Prince Jacob retweeted
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!
Prince Jacob retweeted
👀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/10.1101/2023.03.10.2…) and pen. estimate in line with Boussaroque et al 2020 (doi.org/10.1016/j.jcf.2020.0…) (see graph)
Validated the genetic cause, collaborated with multiple researchers internationally, and finally the first publication in a Nature communications Journal! Thankful to my mentors and colleagues from @GeneticsManipal and Karlionsek institution, Sweden for all the guidance!
We were able to diagnose the molecular basis of family 1 after 5 long years! Went in search for this patient family in a village area, as they were unable to come for checkup, and got the samples from all the affected individual's.
Prince Jacob retweeted
Past and present scholars of @GeneticsManipal attending and presenting #ASHG2023, proud of the team and their work @MajethiaPurvi @thrumybluwindow @princejacb @KParneet_ @kmc_manipal @MAHE_Manipal
