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June 2023 Education Forum with

Dr. Carlos Rose and Dr. Carine Wouters




Dr. Ruth J. Napier
Assistant Professor
Molecular Microbiology and Immunology
Oregon Health & Science University
Principal Investigator, Research Microbi
ologist VA Portland Health Care System

TOPIC: A NOD2 T cells: New insights into the pathogenesis of Blau Syndrome

SUMMARY: Dr. Napier runs a translational immunology laboratory located at the VA Hospital in Portland. Dr. Napier’s research program is focused on understanding how microbial sensors, including the NOD2 gene, control pathogenic cellular responses in autoimmune and autoinflammatory diseases. She hopes to use this information to advance therapeutics for Blau syndrome. Dr. Napier presented her latest research, which had discovered an unexpected role for NOD2 in suppressing pathogenic T cells that cause arthritis and uveitis. These findings contribute to the understanding of the immunopathogenesis of Blau Syndrome and provide insight into new therapeutic options for patients. The focus of the presentation was the potential of IL-17 as a treatment for Blau. Dr. Napier is one of the very few researchers in the world, who has Blau mice in her lab. She was able to show images of mice who have Blau syndrome and how they respond to IL-17. One of the most controversial findings presented was the possibility that Blau syndrome may be a loss of function, rather than a gain of function mutation, as previously believed. Dr. Napier explained how her exciting new findings are limited by the limited patient samples she currently has.

Dr. Naotomo Kambe
Associate Professor
Department of Dermat
Kyoto University Gradua
te School of Medicine

TOPIC: Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan

SUMMARY: Dr Kambe has co-authored more than 100 publications on Blau syndrome and autoinflammatory disorders. His most recent publication followed 50 patients with Blau syndrome – with such a small population this is one of the largest cohorts that has been studied. Dr Kambe presented his clinical observations and disease specifics. In many patients, disease onset was recognized after BCG vaccination. Most patients who became blind were treated with non-biologics, whereas none of the patients treated with biologics from a young age were blind. Dr. Kambe’s presentation highlighted the need for more research and better treatment options.


Dr. Gregory D. Fairn
Associate Professor
Departments of Biochemistry and Surgery
University of Toronto
Keenan Research Centre for Biomedical Science
St. Michael's Hospital, Unity Health Toronto


TOPIC: Acylation of NOD2 controls its subcellular targeting and signaling

SUMMARY: Dr. Fairn presented his latest findings from a grant on  Chron’s research, which offered insight for Blau syndrome. The team discovered that the peptidoglycan sensor NOD2 requires the post-translation addition of fatty acids (acylation) to localize properly in the cell and transduce signals in response to peptidoglycan. They also found that a large number of human NOD2 mutations associated with Crohn’s disease are inefficiently acylated thus explaining their loss-of-function phenotype. Conversely, the C495Y mutant associated Blau Syndrome displays hyper-acylation in the absence of peptidoglycan while stimulating inflammatory signaling.  Restoring the acylation levels of the NOD2 C495Y to baseline reduces the pro-inflammatory signaling in cells. Thus, manipulating the levels of NOD2 acylation could be beneficial for treating Blau syndrome.

Jean-Marie Brusq
Senior Program Director - Head of Translational Pharmacology
Oncodesign Biotech Business Unit – France


TOPIC: Discovery of ODS-101, a RIPK2 inhibitor, for the treatment of inflammatory diseases, via Nodosome regulation.

SUMMARY: Mr Brusq is a former GlaxoSmithKline investigator and he joined Oncodesign in 2016 to lead a team that has spent the past 3 years developing a new RIPK2 inhibitor – ODS-101, that holds promise as a potential treatment for inflammatory disorders. There has been a lot of talk about RIPK2 and it is exciting to hear that this could be a new option for a more targeted treatment for Blau syndrome. According to the latest research, strong genetic evidence directly link the NOD2-RIPK2 axis to Blau syndrome. Therefore, RIPK2 was chosen as the most tractable target in this pathway to inhibit the nodosome overactivation.

Kourosh Ahmadzadeh

PhD student at the Rega Institute, KU Leuven, Belgium under the supervision of Prof. Dr. Carine

Wouters, Prof. Dr. Patrick Matthys and Dr. Carlos Rosé


TOPIC: Study of granuloma and giant cell formation in Blau syndrome.

SUMMARY: Mr. Ahmadzadeh presented his findings from examining the process of giant cell and granuloma formation in autoinflammatory diseases with a focus on Blau syndrome. He has used complementary and cutting-edge technologies, including live cell analysis, advanced flow cytometry, RNA sequencing and proteomics, with the aim of finding a better therapy for Blau patients. Mr. Ahmadzadeh has been working under the supervision of world-renowned Blau experts – Dr. Wouters, Dr. Matthys and Dr. Rose, who also joined in for the question and answer session.


Rare Humans: 

Turning Research into Action

This documentary showcases eight rare disease families changing the future of medicine as they pursue their missions to cure the incurable. These inspiring stories of love, loss and determination prove that every one of us has the ability to turn hope into action.


The following rare diseases foundations are represented:

Cure Blau Syndrome Foundation


Project MD

CSNK2A1 Foundation 

CRMO Foundation

Sanfilippo Foundation 

Mila's Miracle Foundation 

 Blau Syndrome Podcasts



Me, My Sister and Blau

Cheryl-Lynn Townsin is the mom to Lexi and Felix and the Director of the film, Me, My Sister and Blau. I fell in love with this family when I saw their film and their story has really stuck with me. Cheryl is joining me to share memories of Lexi and the grief that remains from their loss. Lexi's older brother Felix is changing the world and he's incredible. This family fights every day to continue Lexi's legacy of love and they're determined to find a cure for those affected by Blau Syndrome.



Advocates Come in Small Packages - My Life with Blau Syndrome with Keira Howell

Keira Howell is a twelve year old living with Blau Syndrome joining me to share her story of living with a chronic disease.

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