cmgg-Pr Bert CALLEWAERT

Astrazeneca awarded its « Scientific Prize 2024 » to Pr Bert Callewaert .

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On 12th December 2024, Astrazeneca awarded its « Scientific Prize 2024 » to Pr Bert Callewaert .

We are very happy and proud that Pr Callewaert is one of the rare worldwide experts on Cutis Laxa. He is awarded the prize for his research on congenital rare diseases of elastic fibers, including Cutis Laxa and profibrotic diseases such as Myhre’s syndrome. His research has contributed to the molecular and clinical characterization of these diseases.

Together with his team, he works on very rare forms of Cutis Laxa and identified several new genes and entities within the Cutis Laxa spectrum.

« Elastic fibers play a crucial role in the elasticity and mechanical properties of tissues such as the skin, lungs and blood vessels. We studied cutis laxa, a group of conditions characterized by loose and excessive skin folds, and Myhre’s syndrome, in which tissues harden or heal, to understand the structure and function of elastic fibers. This knowledge offers the possibility of finding treatments for age-related disorders. » (Pr Bert Callewaert ©Fondation AstraZeneca)

The AstraZeneca Award recognizes the innovative nature of his work and his contribution to the advancement of science.

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Thesis on cases of Cutis Laxa

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Dr Thatjana Gardeitchik was a successful candidate with her thesis defence on 9th September 2024.

The title is: « Curious cases of Cutis Laxa , Insights into the diagnostics and patho-mechanisms of metabolic cutis laxa syndromes”.

You can find it online, in English only

(https://www.globalacademicpress.com/ebooks/thatjana_gardeitchik/)

Dermatology Days of Paris

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03rd-06th December 2024

Dermatology Days of Paris (JDP)

Thanks to our stand during the JDP, I have had the great joy, more than 30 years later, to see again Dr Karim CHERTI.

At that time, he was a junior doctor in the genodermatosis unit at Hôpital Saint Louis in Paris. He was a member of the team who diagnosed my daughter, Cécile, and wrote his thesis on her case.

It was a very moving moment for both of us.

FIMARAD Annual Meeting

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08th November 2024

FIMARAD Annual Meeting

Patient organisation representatives attended the Annual Meeting of the French Network for Rare Skin Disorders.

On this occasion, they especially mentioned the progress of the working group  « Diagnosis roving and impasse » with the analysis of the patient survey. The results of this survey are planned for publication

European Elastin Meeting

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28th-31st October 2024

European Elastin Meeting (EEM 2024) in Reims.

All the scientists working on Elastin were gathered together on the initiative of the teams at Reims University.

These days were fascinating, instructive and created therapeutic hope.

To top it all, it was a great joy to meet Pr Zsolt URBAN from Pittsburgh as well as researchers from Pr Romain DEBRET’s team in Lyon.

All the exchanges, shared moments, the possibility to give patients’ point of view, as well as relaxing times: these were the keys to the success for these 3 days. We also know that future collaborations will  result from them.

It was really important to be there.

ERN-Skin Board Meeting

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24th-25th October 2024

ERN-Skin Board Meeting at “Institut Imagine” in Necker Hospital in Paris.

This important annual gathering allow us not only to meet again and make time for face-to-face exchanges on future projects, but also to take stock of what we have achieved during the past year.

Cutis Laxa : What’s new

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Cutis Laxa update

During the World Congress in Paris in June 2024, an update of the knowledge on Cutis Laxa was presented.

Pathophysiology of CL is represented as a defect of the elastic fibers. In the inherited forms, it is a defect of synthesis/assembly of elastic fibers, due to genetic mutations. When looking at the acquired form of Cutis Laxa, the process is different as it is instead a destruction of elastic fibers that were , at first, normal.

As of today, 18 sub-types have been identified in the inherited forms, together with related disorders such as Arterial Tortuosity Syndrome or MACS Syndrome. These identifications allow a new classification.

The forms with prominent connective tissue features (Tortuosity, Skin, Bones, Emphysema) and those with main neurological features with or witout intra-uterin growth retardation are still there. The validation of this new classification is still ongoing. It will be a better tool for diagnosis, integrating clinical data, ultrastructural findings and pathophysiology. It will be the basis for novel guidelines..

Infographics

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 5 % of the global population are suffering from a rare disorder

Equity for people living with a rare disorder means equitable access to diagnosis, treatments, care, social protection and opportunities

300 million people worldwide live with a rare disorder. That is equivalent to the population of the 3rd biggest country.

CONECT PROJECT

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After two years of hard work, the CONECT project (Cardio-Ocular Network for Connective Tissue disorders) has come to the end of its funding.

It was important to meet to thing about the future of CONECT and the funding it requires, but also about common projects that may concern some of  CONECT’s members. This is why we gathered together in Philadelphia 24th to 26th July.

Besides the pleasure to see us without any screen and sharing special moments, we had a whole day of work and reflection about future projects.

 

They are still in preparation, but I will certainly have the opportunity to let you know about them in future issues of CLI-News. It also was very important to exchange and see how our lives follow similar and parallel pathways.

World Congress on Rare Skin Diseases

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The most important event for rare skin disorders was held in Paris from 12th to 14th June.

The  World Congress on Rare Skin Disorders (WCRSD) gathered together doctors, researchers,patients and industries.

 The patient’s point of view was at the core of common interests with a plenary session organised by the patients which attracted over 150 participants.

The session gave a voice to patient representatives coming from South America, Africa, Nepal and the Philippines.

Two other sessions provided a large space for patients’ participation.

One was dedicated to Patient Education Programmes

and the other touched on the future and how to increase our togetherness to improve diagnosis and treatments.

These were three intense days full of exchanges, discussions and future projects for patients’ improved condition.