Rare Diseases

How haemophilia diagnostics and treatments help drive ‘Access for All’

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April 17th is World Haemophilia Day, an international campaign designed to honour the people and families coping with this rare condition and raise awareness of the disease. This year’s campaign focuses on “Access for All: Prevention of bleeds as the global standard of care” and ensuring that treatments are available globally. Clinical lab diagnostics can […]

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Newborn screening for SMA: Australia’s Dr Michelle Farrar on why ‘every day counts’

Newborn screening for SMA in Australia: Q&A with Dr Michelle Farrar

A paediatric neurologist and clinical academic researcher with deep experience in spinal muscular atrophy (SMA), Dr Michelle Farrar played a central role in Australia’s efforts to add SMA to newborn screening panels. In this Q&A for Lab Insights, Dr Farrar discusses the process of piloting and launching SMA testing for newborns.  “What we learned is

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Newborn screening innovation ramps up at Murdoch Children’s in Australia

Newborn screening innovation ramps up at Murdoch Children’s Australia

  As interest and investment in newborn bloodspot screening (NBS) grows across Australia, the Murdoch Children’s Research Institute in Melbourne is gaining momentum as an important centre for NBS research and innovation in the country. Based at the Royal Children’s Hospital in Melbourne, the capital of the State of Victoria in south-eastern Australia, Murdoch Children’s

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Rare genetic disease and the diagnostic odyssey: a caregiver’s journey

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In December 2021, Arihai Greene was born with signs of Prader-Willi syndrome (PWS), a rare and serious genetic disorder that includes a complex spectrum of cognitive, behavioural and developmental problems. In this session, his father will discuss the diagnostic odyssey, including the emotional experience of navigating the Singapore healthcare system and coping with a PWS

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Angelman syndrome caregiver shares benefits of early diagnosis

Angelman caregiver highlights benefits of early diagnosis_thumb

  With the advent of newborn screening tests (NBS) for Angelman syndrome, a rare genetic condition that causes serious neurodevelopmental challenges, patients and caregivers may soon have new tools for achieving early diagnosis [1]. The clinical utility and cost-effectiveness of these tests are still being evaluated [2], but they raise hope that more Angelman patients

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Dr Phil Reilly on newborn screening: past, present and future

Dr Phil Reilly on newborn screening: past, present and future

Dr Phil Reilly is a physician, clinical geneticist, biotech entrepreneur, venture capitalist and author with deep experience in rare disease diagnostics, including newborn screening (NBS). In this Q&A with Will Greene, Healthcare Engagement Manager and Project Strongbow Co-Lead at Roche Diagnostics Asia Pacific, we learn more about the history and future of NBS technologies in

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Emerging haemophilia therapies highlight a need for quality diagnostics

Emerging haemophilia therapies highlight a need for quality diagnostics

This article is part 2 in a series on haemophilia diagnostics and therapeutics. The first article, which can be viewed here, provides an overview of its clinical presentation, diagnosis and treatment. As researchers develop innovative new treatments for haemophilia, clinical lab professionals should be aware of these developments and their potential impact on diagnostic workflows.

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Newborn screening in Taiwan: Q&A with Dr Yin-Hsiu (Nancy) Chien

Newborn screening in Taiwan: Q&A with Dr Yin-Hsiu (Nancy) Chien

As Director of the Newborn Screening Centre at National Taiwan University Hospital, Dr Yin-Hsiu (Nancy) Chien is at the forefront of Taiwan’s newborn screening (NBS) efforts. In this Q&A, we speak with Dr Chien about how NBS works in Taiwan, drawing upon her experience as a clinician-researcher and lab director to explore key considerations around

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How Early Check shapes newborn screening policy with better evidence

How Early Check shapes newborn screening policy with better evidence

  Newborn screening (NBS) is an important tool to improve human health—particularly for children with rare diseases who might benefit from early intervention. Yet in many countries, it can take years to generate the data and build the infrastructure necessary to add new conditions to NBS panels. In the United States, health policymakers face an

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Haemophilia diagnostics and therapeutics: a brief introduction

Haemophilia diagnostics and therapeutics: a brief introduction

With new haemophilia therapeutics on the horizon, greater attention must be paid to accurate and timely diagnosis of the disease. To help clinical lab professionals better understand haemophilia and support emerging innovations that can improve patient outcomes, this article provides a brief introduction to its clinical presentation, diagnosis and treatment. What is haemophilia and how

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