Konstantin Deutsch, MD
Konstantin Deutsch, MD
2021 George B. Rathmann Research Fellowship
Institution: Boston Children's Hospital
Project Title: Recapitulating the Human SRNS Phenotype in CRISPR/Cas9 Zebrafish Models by Circumventing NMD
How would you sum up your research in one sentence?
I am working on the identification and characterization of genes that, if mutated, can cause severe kidney diseases in children, with a particular focus on the characterization of these genes in zebrafish models.
Provide a brief overview of the research you will conduct with help from the grant.
Zebrafish are a very well-established and highly cost-efficient model of many diseases in humans, amongst them genetic kidney diseases. The relatively new CRISPR/Cas9 system is a highly precise way to induce mutations in zebrafish. Unfortunately, we are currently experiencing that fish carrying CRISPR-induced mutations often do not show the same symptoms as humans with the corresponding gene mutations. By developing novel knock-out strategies using the CRISPR/Cas9 system, I aim to generate zebrafish models which reliably reproduce the human disease phenotype.
What impact do you hope your research will have on patients?
In-vivo characterization of mutations identified in our pediatric patients with genetic kidney diseases is crucial in delineating novel pathogenic pathways. I aim to develop strategies to generate zebrafish models of these mutations that reliably recapitulate the human phenotype, which is fundamental in helping us understand why these patients get kidney disease and what we can do to help them.
What inspired you to focus your research in this area?
As a matter of fact, the very first lecture I saw in medical school was about polycystic kidney disease. I have been researching the molecular genetics of kidney diseases since my second year in medical school, when I met my doctoral thesis advisor, a nephrologist. I spent a year in Bar Harbor for my dissertation identifying contributors to proteinuria and nephrotic syndrome in fish and mice, did clinical training in nephrology and hypertensiology, and finally decided to join a nephrology research team at Boston Children's Hospital. I do not think that there was a single inspiring moment. It just happened, I love it, and I wouldn't change my specialty for the world.
In one sentence, please describe the importance of having grant funding available through KidneyCure.
My KidneyCure grant provides me with the opportunity to continue working on a project I am very adamant about and that I am proud of in a research group that has become something of a second family to me and in a city that I am thrilled to call home.
What advice would you give to others to encourage them to apply for this grant funding?
Writing grants and getting feedback from reviewers is the best way to get scientific writing practice and reflect on your project with the help of input from outsiders. And eventually, it will pay off.
In my free time, I like to…
read, enjoy good food and spend time with my husband and our little black pug, Meatloaf.