Revolutionize Diagnosis and Management of Rare and Neurological Diseases: The Challenges. Journal of Clinical and Health Sciences, 9 (1). S1-S1. ISSN 0127-984X (2024)
Abstract
Rare diseases present intricate diagnostic challenges, particularly within diverse populations like Malaysia. Malaysia's genetic diversity, stemming from its multicultural
makeup, underscores the urgency of transforming rare disease diagnosis. Conventional diagnostic methods often fall short in uncovering the genetic variants responsible for these conditions, leading to misdiagnoses or diagnostic delays.
Recognizing the potential of innovative approaches is crucial for addressing this gap. Transforming rare disease diagnosis necessitates the collaboration of multiple stakeholders. Collaborations between research institutions and private companies can drive innovation, making advanced diagnostics more accessible and affordable, while government entities provide policy frameworks and funding support. Policy initiativescan incentivize private sector involvement in rare disease research and diagnostics.
Funding for research, infrastructure development, and training programs can facilitate
the integration of genomic insights into clinical practice. Regulatory frameworks can
ensure the ethical and responsible use of genetic information while protecting patient
rights and privacy. On successful example of such endeavor is the 100,000 Genomes
Project, a partnership between the government, National Health Service, and private
companies, aimed to sequence 100,000 genomes from patients with rare diseases
and cancers. This initiative had revolutionized diagnostics and personalized
treatments. In 2023, a group of clinicians and researchers in Malaysia have come
together in collaboration to set up the Consortium of Genomics for Rare and
Neurological Diseases with a shared vision of improving patient outcomes and
healthcare quality of patients with rare and neurological diseases. The main focus of
the consortium is to use Next-generation sequencing (NGS) platform in the quest to
identify elusive genetic variants responsible for rare diseases. The ability to uncover
intricate genetic variations, especially within the context of a diverse population, holds
immense promise for accurate diagnosis, novel therapeutic avenues, and enhanced
patient care. We believed that by harnessing the collective strengths of all
stakeholders, Malaysia can revolutionize diagnosis and management of rare and
neurological disease, improving the lives of affected individuals and families.
| Item Type: | Article |
|---|---|
| Keywords: | Rare disease, neurological diseases, Next-generation sequencing (NGS |
| Taxonomy: | By Niche > Genome > Genomes By Niche > Genome > Human Genome |
| Local Content Hub: | Niche > Genome |
| Depositing User: | Hazrul Amir Tomyang (Puncak Alam) |
| Date Deposited: | 30 May 2025 02:41 |
| Last Modified: | 30 May 2025 02:41 |
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