To play, press and hold the enter key. To stop, release the enter key.

About us 

We are a motivated and enthusiastic group of scientists working on rare diseases. The long term goal of our research group is to identify and characterize novel genes that underlie development, function and pathologies of the nervous system. We apply next generation sequencing technology to prioritize potentially causative variants in undiagnosed neurodevelopmental disorders. For functional validation of prioritized variants we undertake a multidisciplinary approach and aim to harness our discoveries for genetic diagnoses and development of efficient and personalized therapeutic strategies.

Rare diseases


Aphorism “when you hear hoofbeats behind you, don’t think zebras”  is often used to train students of medicine to exclude rare and exotic diagnoses when seeing their patients. For exactly this reason, the zebra became a symbol for rare diseases. There are more than 7000 different known rare disorders, collectively affecting approximately 350 million people worldwide, and 35 million in Europe alone.

Our logo design is a colorful zebra patterned human brain to represent different rare diseases of the nervous system, each unique and rare, as are all rare disease patients. 


We are always interested in motivated and enthusiastic scientists to join our team! If you don't see the position you are interested in listed below, please contact us by clicking the button on the right.

Full-time Technical Assistant position

We are seeking a team oriented, motivated and hard-working individual to support the stem cell activities of the lab. A strong background in sterile tissue culture techniques and an interest in neuroscience is desired. For more information please click on the link below and contact us! The position is available immediately!

Full-time PhD position

We are seeking a curious, independent and hard working individual with interest in neurology, genetics, and intellectual disabilities to join our team. Strong background in molecular and cellular neuroscience is a plus. We recruit through the Ce-M-M- PhD Program, for more information, please click the button on the right.

Upcoming events

Nov. 11 2021 at 11:00 am 

Invited talk:

Medical University of Vienna; Centre of Physiology & Pharmacology; Institute of Pharmacology 

Vanja will be presenting our work on characterizing novel neurodevelopmental disorders using genetic mouse and fly models as well as human stem cells. 

Nov. 08-16 2021  

Society for Neuroscience Conference, Chicago, IL, USA

Visit Chris' poster "Fibcd1 is a conserved receptor for CS-4S of the brain's extracellular matrix" and find out more about this exciting project. Virtual: November 8-11, In-Person: November 13-16, Chicago, IL --> date and time information TBA!

News and announcements

9. Nov. 2021

We congratulate our collaborators, Joerg Menche and his team from Max Perutz Labs Vienna, for their tour de force publication today at Nature Communications! Their PhD student, Pisanu Buphamalai, has generated a multiplexed network of 20 million gene interactions on multiple biological scales, for a comprehensive analysis  from gene to phenotype. 3700 causative rare disease genes are included. Discover the power of this mammoth network, and how it can help in your research! We are very proud to have been invited to contribute in small part to this impressive project. 


7-8 Oct. 2021

At our second annual lab retreat at Prein am der Rax we celebrated our 5th birthday! With a future focused theme, we discussed introducing new cutting-edge technologies into the research, career plans of all the members, as well as inspiring talks from Sejla Sejlic from discovery, Joshua Bagley from a:head bio AG and Michael Orthofer  from JLP Health. We are grateful to all of our guests, and look forward to another 5 years!


30 Sept. 2021

We congratulate our postdoc Dr. Swaroop Achuta for the poster award he received at the 17th Austrian Neuroscience Association meeting in Salzburg, Austria! We are grateful to the organizers for a fantastic meeting and look forward to seeing everyone next year. Great way to start in-person meetings again!  

27 Sept. 2021

Studying genes causing very rare diseases that affect only a few people around the world can teach us about basic biology underlining diseases that affect a large number of us. In our latest paper out today, we describe the function of PRDM12, a transcriptional regulator that is involved in a rare disorder of the peripheral nervous system that causes a complete absence of pain perception, Congenital Insensitivity to Pain. There are only a few 100 people out there with this rare disease. We report that PRDM12 is critical during development but also still active in adults. These data are hopeful, as they imply PRDM12 to be a viable therapeutic target for chronic pain that affects 30% of people sometime in their life world wide. Check out our work and let us know what you think. Link on the right!     


27 Sept. 2021

We are excited for the publication of our first case report in Human Genome Variation titled "Expanding the known phenotype of Mullegama-Klein-Martinez syndrome in male patients". First author, Fiona Freyberger, used whole exome sequencing to identify a rare causative mutation in STAG2 gene in a young patient with a complex neurodevelopmental disorder. This is only the 19th case of this disease published so far. Click to the link on the right for more information. We are grateful to our clinical collaborators and especially to the patient and his family.


23 Sept. 2021

We were excited to join our colleagues from the Medical University of Vienna to support Michael Craig Gradwell on his 2,800 km bike ride to raise awareness for the rare disease ALS and to raise financial support for ALS research. Read all about his journey on his facebook page:   

We wish him luck and good health!!      


11 Sept. 2021

We are proud to announce our first preprint in bioRxiv! A collaborative effort spearheaded by Chris Fell and Astrid Hagelkruys from the J. Penninger group describing a novel role of the chitin receptor FIBCD1 in neuronal function and pathophysiology of a rare neurodevelopmental disorder. The link to the paper on the right! Check it out and let us know what you think!            

14 June 2021

Another really fun lab outing just to celebrate the privilege of getting vaccinated, the beauty of the summer heat, and reopening of public spaces and restaurants in Vienna! We started with Indiana Jones-themed escape room and topped it off with a nice outdoor restaurant that ended in high speed scooter rides through the Vienna center!             

lab outing june 2021.jpg

10 May 2021

We are thrilled to have been accepted as members to the Undiagnosed Diseases Network International (UDNI)! We look forward to participating in and contributing to this excellent organization!          

3d brain.JPG

14 April 2021

Congratulations to our postdoc Dr. Swaroop Achuta for being one of the finalists for the 3Brain Massimo Grattarola Award for innovative ideas in technological advancement in neuroscience research!         

22 March 2021

The Nagy team welcomes its first MD undergraduate student, Haluk Caliskan, who will as part of his thesis project work on whole-exome sequencing and genetics analysis of undiagnosed neurodevelopmental cases. Welcome Haluk!          

genomics conference.JPG

14-16 April 2021

Chris Fell will be presenting his work on a novel lectin receptor and its role in neural development and function in poster and lightning talk format at the Genomics of Brain Disorders Virtual Conference.          

15-16 March 2021

The first European Syngap1 and Related Neurodevelopmental Disorders Symposium was a smashing success! We heard talks from a combination of renown neuroscientists, top notch clinicians, patient organizations and parents with affected children. We are grateful to our fellow organizers and admins' support, and especially thankful to the patient organization group Leon&Friends for making all of this happen. Special thanks to Chris Fell for his superb IT skills during the conference. Looking forward to next year!


Get to know this wonderful and active patient advocacy organization Leon&Friends by visiting their website by clicking their logo.


12 March 2021

During times of lockdowns, quarantines, social distancing and shift work it is harder than even to keep your research group motivated and team oriented. CellMentor discusses some fun ideas for the virtual lab meeting, mentioning some of our ideas as well!        

cell mentor.JPG
lbi rud logo.JPG

18-19th March 2021

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases welcomes its Scientific Advisory Board. This year in online format, we are looking forward to interacting with the board members and showcasing our recent accomplishments.        


28 Feb. 2021

February 28th is rare disease day. Due to COVID restrictions worldwide efforts to raise awareness of rare diseases and fundraiser activities will, unfortunately, be challenging. Check out the official Rare Disease Day page to learn how you can get involved and contribute.            

rare disease day.JPG

18 Feb. 2021

14:00-17:00 Edenhofer/Nagy Gene Editing in Neural Cells Workshop

Workshop is organized to foster collaboration and communication between the two research groups with a common interest in genome editing screens in neurons.   

25 Feb. 2021

Nagy lab outing! The weather is finally warming up, Spring is almost here, its time to be outside! There are not many opportunities to spend time together during COVID quarantines, so we are off to a peri-Vienna hike. 

lab pict.jpg

March 2021

March issue of the journal Trends in Molecular Medicine not only includes Chris' Opinion article "Cellular Models and High-Throughput Screening for  Genetic Causality of Intellectual Disability" but also highlights Vanja's scientific journey as part of their Stories in Molecular Medicine segment. Our unbiased opinion is that this is definitely the issue to check out!   

Trends bio.jpg

12. Feb. 2021

There are more than 7000 different rare diseases, most without any treatments. Amazingly, for a metabolic disorder erythropoietic protoporphyria (OMIM# 177000), marked by light sensitivity and extreme pain, there is an EMA approved treatment, Afamelanotide, which has been shown to allow people with this condition to live a nearly normal, pain-free life! Shockingly, in Austria, Afamelanotide is only available to 5 people (?!) Luckily, you can do something about this. Make your voice heard and help people with this rare and difficult condition see the light of day (literally!!) Simply, sign the petition! Its the least you can do for rare disease month.           


02 Jan. 2021

PhD Student Christopher Fell's Opinion article titled "Cellular Models and High-Throughput Screening for  Genetic Causality of Intellectual Disability" is online at Trends in Molecular Medicine! Congrats Chris!


01 Nov. 2020

New postdoctoral fellow, Dr. Swaroop Achuta joins the lab. Welcome Swaroop!


08 Aug. 2020

PhD Students Sophie Imhof and Dr. Tomislav Kokotovic's forum article titled "PRDM12: New Opportunity in  Pain Research" published in Trends in Molecular Medicine! congrats Sophie and Tomislav! 



03 Aug. 2020 

The Nagy team is awarded the FWF 1000s Ideas Programme grant for their work titled:"Reverse Engineering of Neurodevelopmental Disorders". The grant was co-authored by PhD Student Christopher Fell and will be spearheaded by PhD student Victoria Kartysh.

Read more:

01 Aug. 2020 

New PhD student Victoria Kartysh joins the lab. Welcome Victoria!