Diagnostic Clinic
At the Diagnostic Clinic, we focus on accelerating the diagnosis for individuals with suspected rare genetic disorders, enabling faster access to therapies and appropriate care. A quick and accurate diagnosis is essential for every patient, as it prevents a prolonged search for the cause and the associated uncertainties.
A diagnosis is often only the beginning: the next step involves finding available treatments or developing new therapies. For many diseases, especially metabolic disorders, speed and accuracy are warranted for timely identification and intervention before irreversible damage is done. Emma CPM is committed to reducing the time between diagnosis and the start of treatment.
We apply (epi-)genetic techniques to improve the diagnostic process. By utilizing epigenetic analysis (Episign) and Polygenic Risk Scores, we gain further insight into the pathogenesis in rare genetic disorders. Our aim is to develop and offer the best personalized treatment. Additionally, we compose a cohort registry with detailed information of genotype, phenotype, and accurate mapping of disease progression. This registry is a vital tool for advancing our understanding of disease mechanisms and predicting outcomes through natural history studies.
The rise of artificial intelligence is playing an increasingly important role. It has the potential to contribute to the interpretation of gene variants identified through genetic diagnostics. By integrating these variants with -omics data, such as transcriptomics, proteomics, and metabolomics, we can predict whether a gene variant is causing the disease or not.
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The Emma Center for Personalized Medicine organizes multidisciplinary clinics where healthcare providers collaborate with scientists to ensure the right care is provided at the right place.
The Diagnostic Clinic of Emma CPM offers the following outpatient clinics:
- Precision Diagnostics Clinic
The Precision Diagnostics Clinic is for patients in whom standard genetic diagnostics has not yet provided a diagnosis. At this clinic, we try to solve these unknown cases.
- CRISPR Q&A Clinic visit
The CRISPR Q&A Clinic offers a unique opportunity to consult with a clinical geneticist and a scientific CRISPR researcher about the future possibilities of CRISPR-based therapies. This is a collaboration between the CRISPR Center and the Emma Center for Personalized Medicine.
The Emma CPM is a center of expertise at the Amsterdam UMC focusing on patients and families with a rare genetic disorder.
A collaboration between the Emma Children's Hospital, the Department of Human Genetics, the Laboratory of Genetic Metabolic Diseases, and various departments and laboratories.