Rare Diseases

Prof Alessandra Ferlini presents on Screen4Care at ESHG 2024

Prof Alessandra Ferlini presents on Screen4Care at ESHG 2024

As Scientific Coordinator for Screen4Care, a major public-private consortium focused on evaluating the potential of next-generation sequencing and digital tools for newborn screening in Europe, Prof Alessandra Ferlini plays a leading role in an important research initiative that aims to drive early detection and proactive treatment of serious genetic disorders. In this recent presentation at a […]

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Improving rare disease diagnostics in Korea: spotlight on Prof Jong-Hee Chae

Improving rare disease diagnostics in Korea: spotlight on Prof Jong-Hee Chae

Widely recognised as one of Korea’s top experts in rare genetic diseases, Prof Jong-Hee Chae serves as Professor in the Department of Clinical Genomic Medicine and Director of the Rare Disease Centre at Seoul National University Hospital (SNUH), one of the country’s leading academic medical institutions. Among her many responsibilities, Prof Chae plays a key

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Screen4Care, NGS and newborn screening in Europe: Q&A with Prof Alessandra Ferlini and Enrico Bertini

Screen4Care, NGS and newborn screening in Europe: Q&A with Drs Alessandra Ferlini and Enrico Bertini

Launched in 2021 via a major public-private consortium in Europe, Screen4Care is a 5-year research project to evaluate the potential of next-generation sequencing (NGS) and digital tools to improve newborn screening (NBS) systems, accelerate the diagnosis of rare genetic diseases, and ultimately link patients with treatments or interventions that can drive better health outcomes. After

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How Taiwan screens newborns for Duchenne muscular dystrophy

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Taiwan is one of only a small group of countries and territories around the world that routinely screens most newborns for Duchenne muscular dystrophy (DMD), a serious genetic disease that primarily affects boys. Amid ongoing advances in the scientific understanding and treatment of DMD, however, more countries are likely to consider adding the condition to their

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BabySeq, ICoNS and the power of newborn sequencing: Q&A with Dr Robert Green

BabySeq, ICoNS and the power of newborn sequencing: Q&A with Dr Robert Green

Dr Robert Green is a physician-scientist who has spent much of his career at the forefront of the exciting field of translational genomics. In this Q&A with Will Greene, Healthcare Engagement Lead at Roche Diagnostics Asia Pacific, Dr Green talks about his pioneering work in newborn sequencing, including via the BabySeq project and the International

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Undiagnosable? This clinical research network can help

Undiagnosable? This clinical research network can help

Until recently, having a rare or undiagnosed disease almost invariably meant that a person would have to suffer through a years-long diagnostic odyssey, enduring batteries of expensive tests with little promise of getting an answer. While this fate is still inevitable for some people, expanding access to affordable, comprehensive sequencing has radically changed the prospects

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Exome sequencing improves rare disease diagnostics in Taiwan

Exome sequencing improves rare disease diagnostics in Taiwan

With ongoing advances in next-generation sequencing (NGS) technology, clinical geneticists and researchers around the world are exploring the role of whole exome sequencing for rare disease diagnostics. In the Asia Pacific region, Taiwan is emerging as a leader in the use of exome sequencing for both research and clinical applications. Compared to single gene or

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Genomic newborn screening and the BeginNGS project: Q&A with Dr Stephen Kingsmore (Part 2)

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Rady Children’s Institute for Genomic Medicine (RCIGM) is widely regarded as a key player in the global ecosystem of research groups that are exploring the role of whole genome sequencing for newborn screening. In this Q&A with Will Greene, Healthcare Engagement Lead for Roche Diagnostics Asia Pacific, RCIGM President & CEO Dr Stephen Kingsmore provides

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Diagnostic whole genome sequencing for rare diseases: Q&A with Dr Stephen Kingsmore (Part 1)

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As President & CEO of Rady Children’s Institute for Genomic Medicine, Dr Stephen Kingsmore plays a key role in driving access to diagnostic whole genome sequencing (WGS) services for children with symptoms of genetic disease. In this Q&A with Will Greene, Healthcare Engagement Lead for Roche Diagnostics Asia Pacific, Dr Kingsmore discusses how the institute provides

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