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Educate HCPs on rare MC4R pathway diseases and how they can lead to hyperphagia and early-onset, severe obesity
Opuscolo
Educational information about hyperphagia, including its characteristics and behaviours and its association with rare MC4R pathway diseases
Opuscolo
Educate HCPs on the clinical features of rare MC4R pathway diseases and the importance of genetic confirmation once these features have been identified
Opuscolo
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
Opuscolo
Educational information about Bardet-Biedl syndrome (BBS), its association with obesity, characteristics and route to diagnosis
Dr Andrea Melluso et al
Opuscolo
Infographic: Rare genetic causes of obesity: Diagnosis and management in clinical care
Prof Beatrice Dubern et al
Opuscolo
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Domande specifiche?
Se non trovi quello di cui hai bisogno o se desideri approfondire un particolare argomento, puoi contattare il nostro team.Leggi di seguito l'ultima edizione del The MC4R Journal per scoprire informazioni importanti nel campo delle malattie associate al pathway del MC4R.
Questa edizione del The MC4R Journal è dedicata a quattro articoli scientifici che approfondiscono le malattie rare associate al pathway del MC4R. Ogni articolo è accompagnato da una sezione introduttiva, infografiche e animazioni, tutte disponibili tramite i link sottostanti.
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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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I nostri eventi in programma per il 2024
Webinar su richiesta
Understanding hyperphagia: a root cause, recognition & burden
Durante questo webinar sponsorizzato da Rhythm, il prof. Carel Le Roux e il prof. Martin Wabitsch esplorano il ruolo del pathway del MC4R nell'iperfagia e nell'obesità grave a esordio precoce, analizzando la gravosità della convivenza con l'iperfagia dalla prospettiva dei pazienti.
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