Mese: Luglio 2025

Hi! I’m Kedar, a PhD student at The University of Manchester and part of the ChromRare project, where I focus on understanding the biology behind Kabuki Syndrome and related rare developmental disorders. 

This past year has been a journey of both growth and discovery. My research explores how early brain development is affected in these conditions by studying patient-derived neurons in the lab. It’s been fascinating to observe these cells change over time, and even more fascinating to uncover how those changes differ in Kabuki Syndrome compared to normal development. The aim is to better understand what’s happening at the molecular level so that one day, this knowledge might guide new therapeutic approaches. 

Working on a rare disease comes with its own set of challenges, from limited existing knowledge to the complexity of piecing together subtle biological clues. But that’s also what makes it exciting—every result, even a small one, feels meaningful. There have been days where progress felt slow, and times I doubted if I was heading in the right direction. But those moments were balanced by breakthroughs and the incredible support from mentors and peers who remind me of the bigger picture. 

Being part of the ChromRare network has been a highlight of my PhD so far. Collaborating with other researchers across Europe, each bringing their own perspective and expertise, has made me appreciate the power of working together across disciplines and borders. It’s not just about the science—we’re building a community driven by shared curiosity and a common goal. 

Looking ahead, I’m excited to keep pushing forward—one experiment, one idea, and one unexpected insight at a time. 

#PhDLife #RareDiseases #iPSC #Epigenetics #Neuroscience #Chromatin #ResearchLife #KabukiSyndrome #ScienceTwitter #CellBiology

Hi everyone! I’m Pol, a PhD student at the Institute of Molecular Genetics of Montpellier, and part of the Chrom_Rare consortium team. I’m originally from Barcelona in Spain, and I ended up in France doing my PhD. I’m passionate about understanding how our genes control brain development — and what happens when this goes wrong.

My research focuses on a gene called CDK13. Mutations in CDK13 can cause neurodevelopmental disorders that look a lot like Kabuki syndrome, a rare condition linked to facial differences, developmental delays, and learning difficulties. I’m trying to figure out why this happens.

To do this, I use different types of cells such as stem cells, neural cells, and patient derived primary cells, to study how CDK13 regulate transcription and how its dysfunction may disrupt epigenetic modifiers like KMT2D and KDM6A, which are key players in Kabuki syndrome. I hope to uncover the molecular roots of these disorders — and maybe, one day, help find new ways to treat them.

For me, science is about asking questions that matter — not only to satisfy curiosity, but to bridge the gap between molecular biology and human health. Working with both cutting-edge techniques and real patient material reminds me why translational research is so powerful.

#PhDLife #Neuroscience #RareDiseaseResearch #KabukiSyndrome #Epigenetics #StemCells #MarieCurieFellow