Rhythm sponsored satellite symposium at the Joint Congress of ESPE and ESE 2025

Sunday, 11 May 2025, Copenhagen - DENMARK

Understanding rare melanocortin-4 receptor (MC4R) pathway diseases: From insights to precision medicine

About the event

Join us at the Joint Congress of ESPE and ESE 2025 on Sunday 11th May 2025, 12:50–14:05 CEST in Room C2, for the Rhythm sponsored satellite symposium entitled 'Understanding rare MC4R pathway diseases: from insights to precision medicine'.

The session will bring the journey of a “patient”, Alex (a fictional patient case study) to life, illustrating the need for strong collaboration between paediatric and adult endocrinologists.

During this session, Professor Martin Wabitsch (University Medical Center, Ulm - Germany), Dr Elizabeth Forsythe (Great Ormond Street Hospital, Guy's Hospital and St Thomas' Hospital, London - United Kingdom) and Professor Christine Poitou (Sorbonne Universités, Paris - France) will be discussing:

  • The impact of living with a rare MC4R pathway disease and the journey to diagnosis
  • The role of precision medicine and the most recent data
  • The impact of early intervention: Clinical experience with patients suffering from rare MC4R pathway diseases

Day 1 11 May 2025

  • 12:55

    The impact of living with a rare MC4R pathway disease and the journey to diagnosis

    by Dr Elizabeth Forsythe

  • 13:10

    The role of precision medicine and the most recent data

    by Prof. Martin Wabitsch

  • 13:35

    The impact of early intervention: Clinical experience with patients suffering from rare MC4R pathway diseases

    by Prof. Christine Poitou

Speakers:

Dr Elizabeth Forsythe is a consultant clinical geneticist working across Great Ormond Street Hospital, Guy’s Hospital and St Thomas’ Hospital in London. She has a specialist interest in rare obesity syndromes, clinical trials and delivering therapies for rare diseases. Dr Forsythe is part of the clinical leadership for the national Bardet-Biedl syndrome clinics in the United Kingdom and runs the setmelanotide treatment clinic for people with Bardet-Biedl syndrome at Great Ormond Street Hospital.

Dr Elizabeth Forsythe

Great Ormond Street Hospital, Guy's Hospital and St Thomas' Hospital, London, United Kingdom
Professor Martin Wabitsch is head of the Division of Pediatric Endocrinology and Diabetes and Chairman of the Center for Rare Diseases at the University Medical Center in Ulm. Professor Wabitsch’s research comprises the development of in vitro model systems to study human adipocyte biology. These models are applied in many research labs worldwide. He also investigates monogenic forms of early-onset obesity, particularly genetic defects in the leptin-​melanocortin system. He described several new disease-causing genetic variants including biologically inactive and antagonising leptin variants in humans.

Prof. Martin Wabitsch

Ulm University Medical Center, Ulm, Germany
Professor Christine Poitou currently works at Nutrinomics, an INSERM/Sorbonne University research unit. She does research in obesity and nutrition. Professor Poitou leads the Rare Disease Reference Center for Prader–Willi Syndrome and Behavioural Disorder Syndromes.

Prof. Christine Poitou

Sorbonne Universités, Paris, France

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