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Precision medicine ...
Precision medicine in rare diseases : What is next?
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- Tesi, Bianca (författare)
- Karolinska Institutet
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- Boileau, Catherine (författare)
- Département de Génétique, APHP, Hôpital Bichat-Claude Bernard, Université Paris Cité, Paris, France
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- Boycott, Kym M. (författare)
- Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
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- Canaud, Guillaume (författare)
- INSERM U1151, Unité de médecine translationnelle et thérapies ciblées, Hôpital Necker-Enfants Malades, Université Paris Cité, AP-HP, Paris, France
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- Caulfield, Mark (författare)
- William Harvey Research Institute, Queen Mary University of London, London, UK
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- Choukair, Daniela (författare)
- Division of Pediatric Endocrinology and Diabetes, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany and Center for Rare Diseases, University Hospital Heidelberg, Heidelberg, Germany
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- Hill, Sue (författare)
- Chief Scientific Officer, NHS England, London, UK
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- Spielmann, Malte (författare)
- Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany
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- Wedell, Anna (författare)
- Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden
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- Wirta, Valtteri (författare)
- KTH,Science for Life Laboratory, SciLifeLab,Genteknologi,Science for Life Laboratory, Department of Microbiology, Tumour and Cell Biology, Karolinska Institutet, Stockholm, Sweden
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- Nordgren, Ann, 1964 (författare)
- Gothenburg University,Göteborgs universitet,Karolinska Institutet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine
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- Lindstrand, Anna (författare)
- Karolinska Institutet
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(creator_code:org_t)
- Wiley, 2023
- 2023
- Engelska.
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Ingår i: Journal of Internal Medicine. - : Wiley. - 0954-6820 .- 1365-2796. ; 294:4, s. 397-412
- Relaterad länk:
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https://doi.org/10.1...
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https://urn.kb.se/re...
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Abstract
Ämnesord
Stäng
- Molecular diagnostics is a cornerstone of modern precision medicine, broadly understood as tailoring an individual's treatment, follow-up, and care based on molecular data. In rare diseases (RDs), molecular diagnoses reveal valuable information about the cause of symptoms, disease progression, familial risk, and in certain cases, unlock access to targeted therapies. Due to decreasing DNA sequencing costs, genome sequencing (GS) is emerging as the primary method for precision diagnostics in RDs. Several ongoing European initiatives for precision medicine have chosen GS as their method of choice. Recent research supports the role for GS as first-line genetic investigation in individuals with suspected RD, due to its improved diagnostic yield compared to other methods. Moreover, GS can detect a broad range of genetic aberrations including those in noncoding regions, producing comprehensive data that can be periodically reanalyzed for years to come when further evidence emerges. Indeed, targeted drug development and repurposing of medicines can be accelerated as more individuals with RDs receive a molecular diagnosis. Multidisciplinary teams in which clinical specialists collaborate with geneticists, genomics education of professionals and the public, and dialogue with patient advocacy groups are essential elements for the integration of precision medicine into clinical practice worldwide. It is also paramount that large research projects share genetic data and leverage novel technologies to fully diagnose individuals with RDs. In conclusion, GS increases diagnostic yields and is a crucial step toward precision medicine for RDs. Its clinical implementation will enable better patient management, unlock targeted therapies, and guide the development of innovative treatments.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
Nyckelord
- data sharing
- gene therapy
- genome sequencing
- molecular diagnosis
- precision medicine
- rare diseases
- data sharing
- genome sequencing
- gene therapy
- molecular diagnosis
- precision medicine
- rare diseases
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Tesi, Bianca
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Boileau, Catheri ...
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Boycott, Kym M.
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Canaud, Guillaum ...
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Caulfield, Mark
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Choukair, Daniel ...
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Hill, Sue
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Spielmann, Malte
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Wedell, Anna
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Wirta, Valtteri
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Nordgren, Ann, 1 ...
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Lindstrand, Anna
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Kungliga Tekniska Högskolan
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Karolinska Institutet
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Göteborgs universitet