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.
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
Sept. 28- Oct. 01 2022
Invited talk:
Croatian Society of Biochemistry and Molecular Biology Conference: From Science to Knowledge, Brela, Croatia
Vanja will present the latest projects ongoing in the group at the FEBS Constituent Society. For more information on the conference check out their official page https://congress2022.hdbmb.hr/.
Nov. 7-8 2022
Co-organizer:
11th UDNI Conference on Rare and Undiagnosed Diseases, Vienna, Austria
Annual Undiagnosed Diseases Network International Congress will be be hosted by the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI_RUD) to showcase molecular genetics with a strong focus on ethical and societal issues pertinent to rare diseases, including data sharing and protection, single-patient clinical trials, resource allocation in research and healthcare, and the involvement of patients and advocacy groups. More information to follow.
News and announcements
12. 10. 2022
A big congratulations to our postdoctoral fellow, Dr. Swaroop Achuta, for obtaining the competitive and prestigious postdoctoral fellowship, the ESPRIT-Programm from the FWF Wissenschaftsfonds. This special granting scheme aims to support young promising scientists during their early career transition to an independent research position. Swaroop will continue to use his expertise in stem-cell technology to understand the pathology of a rare neurodevelopmental disorder caused by HACE1-deficiency. We are grateful to the FWF for their continued recognition of our accomplishments and our work, and for their continued financial support of our research objectives.
07. 9. 2022
We are very proud to share that the latest work from our research group is highlighted on this month's cover of EMBO Molecular Medicine where we describe novel variants within a gene, FIBCD1, that are potentially causative in a rare neurodevelopmental disorder in two unrelated patients. This work took over 10 years to complete and brought together 29 experts from 7 different countries together to complete it. It was spearheaded by our recently graduated PhD student, Dr. Chris Fell and Dr. Astrid Hagelkruys of the Josef Penninger team from IMBA, Vienna. We are grateful to Tibor Kulczar, IMBA, Vienna, Austria for his help in the cover design!
02. 8. 2022
Our manuscript titled "FIBCD1 is an endocytic GAG receptor associated with a neurodevelopmental disorder" is published today at EMBO Molecular Medicine. This mammoth project was collaboratively lead by our PhD student Chris Fell and Astrid Hagelkruys from IMBA, Vienna, and it represents the major portion of Chris' PhD thesis he recently defended. Here we identified variants within the FIBCD1 gene in two unrelated rare disease patients with an undiagnosed neurodevelopmental disease. To ascertain the causality of these variants, we analyzed 2 animals models of FIBCD1-deficiency to determine its role in the central nervous system function. We uncovered it is responsible for binding, internalizing and maintaining the abundance of a specific glycosaminoglycan, CS-4S, in the brain. We further developed a cellular assay that allowed us to conclude patient variants are deleterious to FIBCD1 protein function and could contribute to the symptoms observed in the patients. These data contribute to the understanding of the role of the extracellular matrix in brain function and will hopefully aid in diagnosis of other patients. We are grateful to the patients, their families and clinicians for their cooperation, as well as all of our collaboration partners and numerous individuals who have contributed their advice, expertise and help in this project.
08. 7. 2022
We are thrilled to announce the successful PhD thesis defense of Chris Fell, titled, "Insights into the Brain Extracellular Matrix Through the Identification of a Novel Neurodevelopmental Disorder". Chris has received the highest score possible for his work on the role of a novel glycosaminoglycan receptor, FIBCD1, in the pathogenesis on a complex neurodevelopmental disorder. His work has been accepted for publication at the EMBO Molecular Medicine journal. Chris will complete his postdoctoral fellowship at the Massachusetts Institute of Technology, USA. We will miss him a great deal and wish him lots of luck!
20. 5. 2022
Swaroop Achuta joined our friends and colleagues from LBI-RUD at the Long Night of Research hosted by the Medical University of Vienna to raise awareness of rare disease research and teach the community about his project working with stem cells and patient-derived neurons.
This event is always loads of fun:
and it was a pleasure to have it once again in person! We look forward to participating again next year.
13. 5. 2022
A big congratulations to our PhD student Victoria Kartysh for been awarded the prestigious DOC fellowship of the Austrian Academy of Sciences! The topic of Victoria’s PhD thesis is aiming to identify common molecular pathways of different monogenic forms of neurodevelopmental disorders (NDDs), specifically intellectual disabilities (IDs), to ultimately harness those discoveries for aiding in identification of novel causative genes as well as development of targeted therapeutic approaches. ID is associated with considerable morbidity and with high social and economic impact due to current lack of effective targeted treatments. While mutations in over 1000 genes are known to be causative of monogenic forms of ID, studies generally dissect individual gene contribution rather than integrating functional relations between groups of genes. Victoria will identify convergent signaling pathways within a selected ID-causing gene network using single-cell transcriptomics of a CRISPR-Cas9 based screen in iPSC-derived neurons.
16. 2. 2022
Homeobox-containing genes bind DNA and regulate transcriptional programs required for early embryonic patterning. There is a large number of homeobox-containing gene protein products expressed in sensory neurons in the dorsal root ganglia (DRG), however, their function has not yet been characterized. In our newest publication out today at FEBS Journal we report that a homeobox protein MEOX2 is expressed in the nervous system, particularly localized to nociceptive dorsal root ganglia neurons, responsible for pain detection. Our multidisciplinary study of haploinsufficient MEOX2 mouse model revealed that it is responsible for fine-tuning nociceptor action potential generation and behavioral responses to noxious stimuli by regulation of pain gene expression, including particular sodium channel subunits.
28. 2. 2022
Feb. 28th is Rare Disease Day. There are ~7000 different rare diseases that affect 350 million people world wide. Rare Disease Day is celebrated internationally, to raise awareness, promote advocacy for patients and their families, and to raise funds for research. This year we will join a virtual, international run to raise funds for Rare Diseases. Wont you join us?? Click on the link to the right to set up your own team, or get in touch with us to join our group. All are welcome!
01. 12. 2021
The Nagy lab welcomes its newest member, Maria Alejandra Silva Sifuentes, who joins us as a Technical Assistant to support the stem cell ambitions of the group.
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 bit.bio 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: https://www.facebook.com/Michaelcraiggr
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!
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!
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!
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!
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.
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.
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!
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!
Link: https://www.sciencedirect.com/science/article/pii/S1471491420303166
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!
Link: https://www.cell.com/trends/molecular-medicine/fulltext/S1471-4914(20)30186-6
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!
