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Stay up to date with the release of new educational materials on melanocortin-4 receptor (MC4R) pathway diseases.
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Educational information on rare MC4R pathway diseases and how they can lead to hyperphagia and early-onset, severe obesity
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Educational information about hyperphagia, including its characteristics and behaviours and its association with rare MC4R pathway diseases
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Educational information on the clinical features of rare MC4R pathway diseases and the importance of genetic confirmation once these features have been identified
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Educational information about LEPR and POMC deficiency, including what it is, key characteristics/clinical features in patients with these conditions, prevalence and route to diagnosis
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Educational information about Bardet-Biedl syndrome (BBS), its association with obesity, characteristics and route to diagnosis
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Infographic: Rare genetic causes of obesity: Diagnosis and management in clinical care
Prof Beatrice Dubern et al
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Discover important information relating to the field of MC4R pathway diseases in the latest edition of The MC4R Journal below
This edition of The MC4R Journal highlights four scientific articles relevant to the field of rare MC4R pathway diseases. Each article is accompanied with an explanatory mini-slide deck, infographic and animation, each of which can be accessed via the links below.
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MC4R Journal
Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study
The CARE-BBS study reports on the caregiver burden associated with hyperphagia and obesity among patients with BBS. A multi-country survey was used to quantify the caregiver burden, which was found to be multifaceted and complex.
Forsythe E, et al. Orphanet J Rare Dis. 2023;18(1):181.
MC4R Journal
Burden of hyperphagia and obesity in Bardet-Biedl syndrome: a multicountry survey
Research into the impact of hyperphagia on the lives of caregivers and patients with BBS has been limited, until now. The CARE-BBS study launched a multi-country survey to quantify the physical and emotional burden associated with hyperphagia in BBS, which was described amongst others as "broad" and "negative".
Forsythe E, et al. Orphanet J Rare Dis. 2023;18(1):182.
MC4R Journal
Clinical and molecular diagnosis of Bardet-Biedl syndrome
This article explores the extensive clinical heterogeneity and main features of BBS. It aims to define the role of the different BBS genes and discuss various strategies for the clinical and molecular diagnosis of BBS.
Solarat C, Valverde D. Methods in Cell Biology. 2023;176:125–137.
MC4R Journal
Genetic contributors to obesity
The current research landscape of obesity caused by genetic impairments is summarised in this article. There is a focus on the known prevalence and hidden burden of obesity caused by genetic impairments, genetic drivers of appetite regulation, the importance of genetic testing and clinical features of monogenic and syndromic obesity.
Sivasubramanian R, Malhotra S. Gastroenterol Clin N Am. 2023;52:323–332.
MC4R Journal
Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study
The CARE-BBS study reports on the caregiver burden associated with hyperphagia and obesity among patients with BBS. A multi-country survey was used to quantify the caregiver burden, which was found to be multifaceted and complex.
Forsythe E, et al. Orphanet J Rare Dis. 2023;18(1):181.
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Check out our events for 2024
16-18 November 2024
European Society for Paediatric Endocrinology (ESPE)
We had a fantastic speaker line-up at this congress to inform you about the latest information on rare melanocortin-4 receptor (MC4R) pathway-related diseases.
Recording will be available soon!
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