About this episode

The episode discusses classical homocystinuria with experts, covering its clinical spectrum, diagnosis challenges, and future treatment options.

Season 2 of the JIMD Research Round-Up begins with a deep dive into classical homocystinuria (CBS deficiency). Hosts Silvia Radenkovic and Rodrigo Starosta are joined by two internationally recognised experts, Dr Andrew Morris (Royal Manchester Children's Hospital, UK) and Professor Kim Chapman (Children's Hospital Los Angeles, USA). In this episode, they explore: - The clinical spectrum of homocystinuria, from childhood presentations to adults diagnosed after thrombosis - Why the condition is still frequently missed or misdiagnosed - The overlap with Marfan syndrome and the unanswered questions surrounding disease mechanisms - The strengths and limitations of current newborn screening programmes - Dietary treatment, pyridoxine responsiveness, and the challenges faced by patients and families - Emerging therapies including enzyme substitution therapy, chaperone therapies, and ongoing clinical trials - Why there is genuine optimism for the future of homocystinuria care and research A fascinating discussion covering six decades of progress in homocystinuria and the next generation of treatments that may transform care.

People in this episode

Hosts: Silvia Radenkovic, Rodrigo Starosta

Guests: Dr Andrew Morris, Professor Kim Chapman

Topics covered

• classical homocystinuria
• clinical spectrum
• newborn screening
• dietary treatment
• emerging therapies
• future of care

Keywords

• homocystinuria
• CBS deficiency
• thrombosis
• Marfan syndrome
• newborn screening
• dietary treatment
• enzyme substitution therapy
• clinical trials

Mentioned in this episode

Organizations: Royal Manchester Children's Hospital, Children's Hospital Los Angeles

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