Do global efforts enhance clinical care for children with rare genetic diseases?

Last Updated on April 5, 2025 by Joseph Gut – thasso

March 25, 2025 – There are more than 10’000 rare genetic diseases, of which about three-quarters affect children. Overall,  rare diseases are becoming increasingly common, affecting about 300 million people globally. One in three children with a rare disease will die before the age of 5.

Global partnerships that embed scientific research into clinical care are revolutionizing the diagnosis and treatments for children with rare genetic diseases, according to a new report. However, despite the advances in genomic technologies that can detect rare genetic diseases within days, there are significant challenges to ensuring this leads to improved child health outcomes. But global collaborations, such as the International Precision Child Health Partnership/Consortium (IPCHiP), using evidence-based approaches to inform decisions in real-time, are overhauling patient care.

More than 70% of rare diseases have a genetic cause. In the recent past, identifying a genetic diagnosis was the first step in delivering personalized/recision medicine. In the process, advances in genomic technologies, especially exome sequencing and genome sequencing, and integrating these tests into clinical settings have considerably improved diagnostic yields for rare diseases, Dr. Howell, a driving advocate in the IPCHiP, stated. Thus, genetic diagnosis often informs clinical management, treatment, prognosis and access to resources and support. Over 600 rare disease genes that often emerge in childhood and cause severe disorders have treatment available, underscoring the urgency for improving diagnosis rates.

A report, published in npj Genomic Medicine on Rare Diseases Day 2025, found that with limited and often inequitable access to genomic testing, wide-sweeping international efforts were needed to accelerate accurate diagnosis and implement evidence-based practice changes. The paper issued / led  by Murdoch Children’s Research Institute (MCRI), The Hospital for Sick Children (SickKids), Boston Children’s Hospital, UCL Great Ormond Street Institute for Child Health (GOS ICH) and Great Ormond Street Hospital (GOSH) suggested that a coordinated approach on a global scale can energize collaboration and maximize research output by building on the diverse expertise and existing efforts, reducing duplication and creating frameworks for responsible data collection and sharing.

This means that multidisciplinary collaborations are also required to connect clinicians with scientists to advance the understanding of diseases and forge partnerships with industry, foundations, and patient advocacy groups to identify opportunities for the development of new therapies and rapidly translate them to the clinic. Here comes IPCHiP in in order to leverage the medical and scientific expertise from MCRI, SickKids, Boston Children’s Hospital, GOS ICH and GOSH  to use genomic data to accelerate discovery and therapeutic options. IPCHiP was recently  designated a “Driver Project” of the Global Alliance for Genomics and Health (GA4GH).

In fact, IPCHiP is the first major global clinical collaboration around genomics and precision child health. Thanks to these international partnerships focused on rare diseases, innovative diagnostic solutions and work towards new treatments that improve health outcomes can be forged; In IPCHiP’s initial flagship project, Gene-STEPS found that rapid genome sequencing was highly effective at diagnosing babies with epilepsy and led to better, more targeted treatment options in most cases. The research, published in The Lancet Neurology in 2023, reported that rapid genome sequencing had a high diagnostic rate of 43% for infantile epilepsy, supporting the need for greater access to the cutting-edge technology in clinical care.

While this cited study relies on obtaining genome sequencing data from childhood epilepsy, which is not so uncommon in the population and certainly widespread, it may be more difficult to obtain globally sufficient clinical examples from children affected with even rarer diseases, and obtain the huge amount of genetic data needed to establish the predictive genetic correlations for the predictive phenotype in a single child. Thus, it might be a true challenge, even globally, to have access to children with, for example, PURA Syndrome or Hamamy syndrome, just to name a few examples.

Nevertheless, the concept behind IPCHiP has great potential for the enhancement of clinical care for children with genetic diseases, One of the next  intended cohort studies will focus on newborns with hypotonia, where a baby is born with low muscle tone, which can lead to difficulties in feeding, holding their head up and achieving developmental milestones. This study certainly will further strengthen the concept behind IPCHiP and confirm that global efforts will enhance clinical care for children with rare genetic diseases. More information on the topic could be obtained from Dr. Katherine B. Howell, one of the driving forces at the International Precision Child Health Partnership (IPCHiP).

Disclaimer: Images and/or videos (if any) and some text passages in this blog may be copyrighted. All rights remain with the owner of such rights.