European Study Group on Lysosomal Diseases

Promoting Collaboration and Exchange

The ESGLD promotes collaboration and exchange between European research groups in laboratory and clinical disciplines which are interested in lysosomal storage diseases.

The Study Group was founded in 1978 as a small informal group of scientists and has grown to become an organisation of over 90 groups from 22 European countries including laboratories as well as diagnostic and clinical groups.

ESGLD board membership election:

With Andrea Ballabio and Eeva-Liisa Eskelinen both standing down from the board we have two places available. After asking for nominations from the membership the following two candidates were proposed and seconded.

Nicole Maria Muschol ( – Proposed by Brian Bigger, Seconded by Paul Saftig
Nicolina Cristina Sorrentino ( – proposed by Brian Bigger, seconded by Pim Pijnappel

Please read their info below and if you are happy with their candidacy vote for them to join the board, we have two places available so both Nicole and Nicolina will be welcome additions. Voting will close on the 7th February at Noon UK Time.

Nicole Maria Muschol

Nicole Muschol is a paediatrician and metabolic specialist. She is head of the lysosomal working group and spokeswoman of the International Center for Lysosomal Disorders (ICLD) at the University Medical Center Hamburg-Eppendorf in Germany. She is interested in basic science and clinical research, especially in MPS III and mucolipidosis and has been principal investigator or actively involved in many international clinical trials for lysosomal storage disorders.

Nicolina Cristina Sorrentino

Nicolina Cristina Sorrentino was graduated with honors in Biology Science at University of Naples “Federico II”. After working as fellow at the Telethon Institute of Genetics and Medicine of Naples (TIGEM), she started a PhD in “Life and biomolecular Sciences“ at Open University. Her main research interest is the development of new therapeutic strategies for the treatment of inherited neurodegenerative disorders.

In Memoriam:  Prof. Dr. med. Michael Beck

Prof. Dr. med. Michael Beck

Obituary – Georg Schetter

Shortly before this year’s Family Conference, we received the sad news that Prof. Dr. Michael Beck passed away unexpectedly on 6.9.2022.

Michael Beck would have been at the Family Conference as he has been for so many years. He would have taken part in the panel discussion this year, he would have had many conversations as always. Together we would have celebrated and we would have toasted his 75th birthday. All that has now turned out quite differently.

We have all been deeply affected by the unexpected death of Michael Beck. Many know Michael Beck because of his work as an outstanding physician – the “Villa Metabolica” will always be associated with his name – , as a teacher of many such wonderful doctors who are at our side today, and not least as a human being.

Today, so many things seem self-evident to us. There are therapies, new therapeutic approaches, an active research community and a vibrant MPS Society. In 1986, the year we were founded, things looked very different. Back then, there was nothing. Scientists and doctors had to be won over to deal with these so rare disease patterns, to do research and to develop therapies. Patient care had to be established and the enthusiasm of young doctors for metabolic diseases had to be awakened, as well as teaching had to be built up. Michael Beck has played a decisive and driving role in ensuring that an international community of scientists, doctors and MPS sufferers has dedicated itself to the topic of MPS. We cannot thank Michael Beck enough for this. Behind it all is not only a scientific and medical interest and a vocation. There is also an enormous private commitment behind it. For example, Michael Beck had a very special connection to us as the MPS Society, because he had been on the board of the MPS Society for many years in various positions since 1988.

It has affected us all deeply that Micheal Beck passed away so unexpectedly and so early. We have lost one of the great and important personalities of our German and international MPS community.

Dear Michael, we owe you so much. We miss you. You will always have a firm place in our community.

Yours, Georg, on behalf of the German MPS Society

In Memoriam: Prof. Dr. Eduard Paschke

Prof. Dr. Eduard Paschke – 04.05.1949-14.07.2022

Obituary – Barbara Plecko – Silvija Tokic – Werner Windischhofer

Dear friends and colleagues,

It is with great sadness that, we wish to inform you that Prof. Eduard Paschke died unexpectedly of a heart attack on July 14th. We still can hardly believe his sudden death.

Eduard received his PhD in 1975 in clinical biochemistry in Prof. Hans Kresse ́s Lab at the Institute of Medical Chemistry in Graz, Austria. In 1979 he followed him to Münster where his research work focused on lysosomal metabolism. After returning to Graz in 1982 he founded the Laboratory of Metabolic Diseases at the Department of Paediatrics and Adolescent Medicine in close collaboration with Prof. Adelbert A. Roscher, Prof. Sylvia Stöckler and Prof. Wolfgang Erwa. From 1987 on he was the head of the research group for Biochemistry and Inborn errors of metabolism at our Children ́s University Hospital in Graz.

In the 1990s, Eduard made significant contributions to the molecular characterization of GM1 gangliosidosis versus Morquio B disease. For many years, actually decades, Eduard Paschke participated and contributed to the annual meeting of the Austrian MPS society, in collaboration and friendship with Michaela Weigl, Prof. Susanne Kircher and the MPS community. Eduard thus exemplified translational research long before this term was coined. He also had the foresight to implement genetic diagnostics and analytical techniques in the mid-nineties, along mass spectrometry for the determination of new biomarkers at our diagnostic laboratory in cooperation with Prof. Wolfgang Erwa and PD Günter Fauler. This enabled a comprehensive view of the individual patient’s phenotype, the metabolite pattern, residual enzyme activity and underlying genotype. His last active professional years until his retirement in 2014 he devoted to a joint research project with Prof. Tanja Wrodnigg and Prof. Arnold Stütz (Univ. of Technology Graz) on the development of
pharmacological chaperones as a mutation-specific therapy for lysosomal diseases. Concerning his employees, Eduard always had an open mind and heart as well as high social competence for the creation of new perspectives.

An unforgettable highlight of Eduard’s academic vita was the organization of the World MPS Conference in Vienna in 1999 together with Prof. Susanne Kircher and lastly the ESGLD Meeting in Seggau in 2013 as a farewell to the international LSD community.

As a private person Eduard was always in a good mood and very approachable. He preferred to spend the summers in his Greek adopted country, together with his beloved wife Dagmar and his three children and grandchildren. They have our deepest sympathy.

We will miss Eduard very much, not only in Graz, but certainly also in the circle of the Austrian working group for inborn errors of metabolism, and we will always honor his service to our department and to LSD patients and families. Eduard’s work in highly specialized lab-diagnostics and basic research will be continued with full enthusiasm by his successors and the whole team at our metabolic center.

On behalf of the entire Graz metabolism team,
Barbara Plecko, Silvija Tokic, Werner Windischhofer

24th ESGLD Workshop and Graduate Course
… Quick Report

We’ve had some great teachers,
we learnt a lot,
we scratched our heads a lot!

You had a flash talk task,
and little time to complete it,
“a bit” of stress,
but you all did a brilliant job!

We had excellent talks,
and some very democratic judges (!).

We explored caves, aqueducts,
and you made it to the castle somehow!

Some of you can still play ping-pong, pool and darts after a few drinks,
some of us not so good afterwards..

We made tons of new friends,
looking forward to new collaborations,
and who knows…
the DJ might still show up one day

It’s been a blast!

See you in 2024.

On behalf of the organising committee.
Tereza Andreou


Thank you to Brian, Susannah, Laura, Stuart, Shaun, Fabio and Jan for contributing photos.

ESGLD are seeking…
New Board Members…

Dear ESGLD Members,

I hope you are all well and those who attended enjoyed our recent workshop and graduate course!

I am writing to inform you that two of our long standing board members have decided to step down and therefore we would like to invite the membership to propose new ESGLD board candidates. The plan will be to hold an AGM in December (date tbc) and ask the members to vote for their preferred candidates. If you have someone that you would like to propose please email who will compile a list of candidates. It is essential that each candidate has a proposer and a seconder so please include both on your email.

The ESGLD Board would like to sincerely thank Prof. Eeva-liisa Eskelinen and Prof Andrea Ballabio for all their hard work on the board over the last few years.

I would also like to let the membership know that I have decided to step down as Chairman after 9 years in post. I will continue on the ESGLD board but feel it is time for a new chairperson to guide the group going forward. I will stay as caretaker chairman until a new chair is appointed.

Best Regards
Brian Bigger, ESGLD Chair

A Big Thank You

We would like to say a big THANK YOU to everyone who participated in the recent 24th ESGLD Workshop and Graduate Course. It was great to have an in-person meeting again to discuss our science and meet old (and new) friends.

We would like to take this opportunity to congratulate our Prize Winners once again!
Best Oral Presentations:
Catarina Pechincha – The lysosomal enzyme trafficking factor LYSET enables nutrient generation from extracellular proteins.
Fabio Catalano – Brain targeting of GAA Promotes Full Correction of Murine Pompe Disease at a Clinically Relevant Dosage of Lentiviral Gene Therapy.
Edoardo Ratto – Direct control of lysosomal catabolic activity by mTORC1 through regulation of V-ATPase assembly.

Best Poster:
Jan van der Beek – Loss of the HOPS complex induces hybrid early-late endosomes that accumulate endocytic, biosynthetic and autophagic cargo.

Best Flash talk groups exercise:
Catarina Pechincha, Drosos Katsavelis, Anastasia Laudicina

See you in Israel in 2024!

On behalf of the organising committee,
Tereza Andreou

Latest News…

24th ESGLD Workshop and Graduate Course

Dear ESGLD members,

The ESGLD Chairman, Local Organising Committee and Scientific Committee are happy to announce that Registration and Abstract submission for the 24th ESGLD Workshop and Graduate Course to be held face to face in Lancaster, UK between 7th – 11th September 2022 is now open!!!

Key meeting dates:
     7th – 8th September 2022: Graduate course
     8th – 11th September 2022: 24th ESGLD workshop

Please go to to check your lab membership (100 Euros) is up-to-date for the period 2022/2023 – this allows ALL members of your lab to register for the 24th ESGLD Workshop and Graduate Course.

For details of this event and to register and submit your abstracts please follow this link REGISTER NOW

Abstract submission deadline is open – go direct using this ABSTRACT SUBMISSION LINK.

For any queries about the 24th ESGLD Workshop and Graduate Course please contact:

We look forward to seeing you there!

Thank you for your continued collaboration and support,
Brian Bigger Chairman ESGLD
Pim Pijnappel Treasurer ESGLD
Paul Saftig Secretary ESGLD

Please email Chairman for website enquiries, Treasurer for payment enquiries and Secretary for new membership enquiries.

FEBS 2022 Advanced Course

360° Lysosome: from Structure to Genomics, from Function to Disease

4th – 9th, October, 2022 │ Kusadasi / Izmir, Turkey

We’re delighted to invite you to the FEBS Advanced Course, ”360-degree Lysosome; from structure to genomics, from function to disease-update”, which will be held in Kusadası in October, 2022. This course will focus on lysosome biology and function, new metabolic and signalling insights into the function of lysosomes, pathophysiological mechanisms of lysosomal dysfunction in living cells. This course will bring together Basic Scientists & lab researchers & clinicians working on this unique field on the molecular and cellular aspects of lysosomal storage diseases.

This workshop intends to create a scientific platform to discuss advances in the field as well as to establish novel networks among the participants for future collaborations. In order to maximize the opportunities for interactions between young researchers and all participants, the workshop is planned in a dynamic format of plenaries, panels, round-table discussion, poster and oral presentation sessions. A specific meeting slot is allocated for Breakfast & Young Scientists Professional Development. This meeting is a preferential slot which will deal with hot issues in the postgraduate education and further academic and/or industrial careers of young scientists.

Social events (Welcome party, Ephesus& Virgin Mary’s house tour) will create social networks and fruitful interactions during the course.

We are indebted very much to FEBS for their great support for the meeting and Youth Travel Fund. In addition, we wish to express our thanks to Turkish Biochemical Society, EFLM and IFCC for their auspices.

Our previous FEBS-Advanced Lecture Course on Lysosomes was completed with huge success in 2014, we were honoured to receive the positive and rewarding feedbacks from all participants. On behalf of the Organizing Committee, we promise a productive and enjoyable meeting with a high scientific level.

Prof. Dr. Eser Y. SozmenScientific Coordinator

Prof. Dr. Konrad Sandhoff – Scientific Coordinator 


FEBS 2022 Website

Registration Options:

Workshop only Single room £650

Workshop only Twin room £550

Partner rate (Twin or double room)
      no attendance to talks £450

Workshop only Student rate £300

Graduate Course £100


Get Involved… Become a Member Laboratory

The ESGLD is comprised of over 90 member groups from 22 European countries. Membership is open to European laboratories, clinical and diagnostic groups who are actively engaged in research on lysosomal disorders and basic research on lysosomal physiology.

There are three forms of membership:

Group Membership

…whereby a group is represented by a Principal Investigator (PI) or senior researcher. All scientists/practitioners working in this group at any given time are automatically considered members of the ESGLD

Associate Membership

…is for groups that are outside of Europe but have substantive links to ESGLD. This is awarded on a case by case basis at the ESGLD boards discretion

Honorary Membership

…which is for retired individuals who are no longer associated with their previous group but maintain an active interest in the ESGLD. This is awarded at the ESGLD boards discretion

Application Criteria

Applications for membership of the ESGLD are considered and approved by the ESGLD board solely based on the following criteria, with equal opportunities for all.

In order to be become a member group of the ESGLD you must:

1) Be based in the wider European area, (unless approved as an associate member).
2) Be a laboratory, clinical or diagnostic group actively engaged in work on Lysosomal Diseases or Lysosomal Biology.
3) Not be a commercial enterprise or work mainly for commercial enterprise.
4) Associate members must have substantive links to ESGLD member groups

The subscription fee is paid every two years and is €100 per group. Please fill out the application form and include an up to date CV for the consideration of the ESGLD board.

Contact ESGLD

For further information please contact:
Prof. Dr. Paul Saftig
Biochemisches Institut
CAU Kiel
Olshausenstr. 40
D-24098 Kiel
Tel: ++ 49-(0)431-8802216

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