I am happy my team obtained a collaborative grant with @cajaneklab.bsky.social from Czech Science Foundation to study #IFT, #kinesin KIF14 and #TubulinCode in #cilia and #BardetBiedlSyndrome @imgprague.bsky.social
November 28, 2025 at 7:32 AM
I am happy my team obtained a collaborative grant with @cajaneklab.bsky.social from Czech Science Foundation to study #IFT, #kinesin KIF14 and #TubulinCode in #cilia and #BardetBiedlSyndrome @imgprague.bsky.social
Today is the global Rare Disease Day 2026 and we together with colleagues from @imgprague.bsky.social want to raise awareness of research on rare diseases #ciliopathy #BardetBiedlSyndrome
February 28, 2026 at 1:43 PM
Today is the global Rare Disease Day 2026 and we together with colleagues from @imgprague.bsky.social want to raise awareness of research on rare diseases #ciliopathy #BardetBiedlSyndrome
I am grateful for the opportunity to chat with Dr Stephen Johnston from A Race Against Blindness youtu.be/XUZMrMG4WKg?...
#raredisease #medsky #bardetbiedlsyndrome
#raredisease #medsky #bardetbiedlsyndrome
Multispecialty care for BBS @ the Marshfield Clinic BBS Center of Excellence with Dr. Jeremy Pomeroy
YouTube video by A Race Against Blindness - Nonprofit Organization
youtu.be
April 7, 2025 at 12:53 AM
I am grateful for the opportunity to chat with Dr Stephen Johnston from A Race Against Blindness youtu.be/XUZMrMG4WKg?...
#raredisease #medsky #bardetbiedlsyndrome
#raredisease #medsky #bardetbiedlsyndrome
Tiny projections on the surface of human cells can determine whether we stay healthy or develop a genetic disorder. Cell biologist Helen May-Simera is an expert on the hair-like structures called #cilia 👉 www.magazine.uni-mainz.de/the-big-impa...
#CellBiology #MolecularBiology #BardetBiedlSyndrome
#CellBiology #MolecularBiology #BardetBiedlSyndrome
August 11, 2025 at 5:39 PM
Tiny projections on the surface of human cells can determine whether we stay healthy or develop a genetic disorder. Cell biologist Helen May-Simera is an expert on the hair-like structures called #cilia 👉 www.magazine.uni-mainz.de/the-big-impa...
#CellBiology #MolecularBiology #BardetBiedlSyndrome
#CellBiology #MolecularBiology #BardetBiedlSyndrome
Congratulations to Sindija Šmite for obtaining the funding from the Grant Agency of the @charlesuni.cuni.cz, & her co-worker Hanka Hajšmanová 🤩 🎉 Looking forward to the new discoveries in the amazing world of cilia biology in neuronal cell behavior #cilia #BardetBiedlSyndrome @imgprague.bsky.social
April 1, 2026 at 5:37 PM
Congratulations to Sindija Šmite for obtaining the funding from the Grant Agency of the @charlesuni.cuni.cz, & her co-worker Hanka Hajšmanová 🤩 🎉 Looking forward to the new discoveries in the amazing world of cilia biology in neuronal cell behavior #cilia #BardetBiedlSyndrome @imgprague.bsky.social
An updated diagnostic algorithm of the rare #ciliopathy #bardetbiedlsyndrome #raredisease
onlinelibrary.wiley.com/doi/full/10....
onlinelibrary.wiley.com/doi/full/10....
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagn...
onlinelibrary.wiley.com
May 23, 2026 at 3:14 PM
An updated diagnostic algorithm of the rare #ciliopathy #bardetbiedlsyndrome #raredisease
onlinelibrary.wiley.com/doi/full/10....
onlinelibrary.wiley.com/doi/full/10....
Very pleased to see this published online. Clinical Registry Investigating Bardet Biedl Syndrome used to create external natural history cohort as comparator to clinical trial cohort. Demonstrates one of the many important benefits of natural history cohorts
onlinelibrary.wiley.com/doi/10.1002/...
onlinelibrary.wiley.com/doi/10.1002/...
Setmelanotide in Bardet‐Biedl Syndrome: A 52‐Week Comparison of Phase 3 Trial Participants With a Matched Registry Cohort
Objective This analysis aimed to assess the efficacy of setmelanotide over 52 weeks in patients with Bardet-Biedl syndrome (BBS) compared with an external natural history cohort from the internation...
onlinelibrary.wiley.com
February 18, 2026 at 8:12 PM
Our girl Izzie has been suffering from stage 4 kidney failure due to 2 rare genetic conditions that are attacking her kidneys. Kidney function is currently at 18%. We need to find a live donor asap. All expenses covered. #Kidney4Izzie #fsgsrarekidneydisease #bardetbiedlsyndrome #kidneytransplant
December 24, 2024 at 3:34 AM
Our girl Izzie has been suffering from stage 4 kidney failure due to 2 rare genetic conditions that are attacking her kidneys. Kidney function is currently at 18%. We need to find a live donor asap. All expenses covered. #Kidney4Izzie #fsgsrarekidneydisease #bardetbiedlsyndrome #kidneytransplant
An 18-year-old patient with #BardetBiedlSyndrome presented with blurry vision and reduced peripheral awareness.
Read the full case report here: https://bit.ly/4xKsdPA
#Optometry #RetinalDisease #GeneticDisorders
Read the full case report here: https://bit.ly/4xKsdPA
#Optometry #RetinalDisease #GeneticDisorders
Optometry Dx: The Retinal Manifestations of Bardet-Biedl Syndrome
How can a patient’s history of Bardet-Biedl syndrome, a rare genetic condition, explain his visual blur and other eye and retina symptoms?
bit.ly
June 15, 2026 at 5:29 PM
An 18-year-old patient with #BardetBiedlSyndrome presented with blurry vision and reduced peripheral awareness.
Read the full case report here: https://bit.ly/4xKsdPA
#Optometry #RetinalDisease #GeneticDisorders
Read the full case report here: https://bit.ly/4xKsdPA
#Optometry #RetinalDisease #GeneticDisorders