Advances in chromosomal microarray analysis: Transforming neurology and neurosurgery
Over the past two decades, genomics has transformed our understanding of various clinical conditions, with Chromosomal Microarray Analysis (CMA) standing out as a key technique. Offering unparalleled sensitivity, CMA detects submicroscopic chromosomal imbalances, enabling the examination of DNA for...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-01-01
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| Series: | Brain and Spine |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2772529425000165 |
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| author | Wireko Andrew Awuah Muhammad Hamza Shah Vivek Sanker Krishitha Meenu Mannan Sruthi Ranganathan Princess Afia Nkrumah-Boateng Mabel Frimpong Kwadwo Darko Joecelyn Kirani Tan Toufik Abdul-Rahman Oday Atallah |
| author_facet | Wireko Andrew Awuah Muhammad Hamza Shah Vivek Sanker Krishitha Meenu Mannan Sruthi Ranganathan Princess Afia Nkrumah-Boateng Mabel Frimpong Kwadwo Darko Joecelyn Kirani Tan Toufik Abdul-Rahman Oday Atallah |
| author_sort | Wireko Andrew Awuah |
| collection | DOAJ |
| description | Over the past two decades, genomics has transformed our understanding of various clinical conditions, with Chromosomal Microarray Analysis (CMA) standing out as a key technique. Offering unparalleled sensitivity, CMA detects submicroscopic chromosomal imbalances, enabling the examination of DNA for copy number variations, deletions, duplications, and other structural differences. In neurology, CMA has revolutionised diagnoses, personalised treatment plans, and patient outcomes. By identifying genetic anomalies linked to neurological conditions, CMA allows clinicians to tailor treatments based on individual genetic profiles, enhancing precision medicine. CMA's clinical utility spans numerous neurological conditions, providing crucial insights into neurodevelopmental disorders, CNS tumours, neurodegenerative diseases, cerebrovascular diseases, and epilepsy. In neurodevelopmental disorders, CMA aids in diagnosing autism and intellectual disabilities, facilitating early interventions that improve long-term outcomes. In epilepsy, CMA helps identify genetic causes of drug-resistant seizures, enabling more targeted therapies and reducing adverse reactions. CMA also aids in stratifying risk for cerebrovascular diseases, enabling preventive interventions that improve patient prognosis. Despite its potential, challenges remain, such as interpreting variants of uncertain significance (VOUS), the lack of standardised testing guidelines, and issues of cost and accessibility. Addressing these challenges will optimise CMA's impact, advancing personalised medicine and reshaping neurology. This review discusses CMA's pivotal role in bridging the gap between genomics and clinical practice, underscoring its potential to transform neurogenetics and ultimately improve patient care. |
| format | Article |
| id | doaj-art-0d11f787dd0a420ca9eab28c45f932ae |
| institution | Kabale University |
| issn | 2772-5294 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Brain and Spine |
| spelling | doaj-art-0d11f787dd0a420ca9eab28c45f932ae2025-02-05T04:32:50ZengElsevierBrain and Spine2772-52942025-01-015104197Advances in chromosomal microarray analysis: Transforming neurology and neurosurgeryWireko Andrew Awuah0Muhammad Hamza Shah1Vivek Sanker2Krishitha Meenu Mannan3Sruthi Ranganathan4Princess Afia Nkrumah-Boateng5Mabel Frimpong6Kwadwo Darko7Joecelyn Kirani Tan8Toufik Abdul-Rahman9Oday Atallah10Toufik's World Organization, Antonova 10, Sumy, 40007, Ukraine; Corresponding author.School of Medicine, Queen's University Belfast, Belfast, United KingdomDepartment of Neurosurgery, Trivandrum Medical College, India; Department of Neurosurgery, Stanford University, CA, USASchool of Medicine, Queen's University Belfast, Belfast, United KingdomDepartment of Medicine, University of Cambridge, Cambridge, United KingdomUniversity of Ghana Medical School, Accra, GhanaBryn Mawr College, 101 N Merion Avenue, Bryn Mawr, PA, USADepartment of Neurosurgery, Korle Bu Teaching Hospital, Accra, GhanaFaculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, United KingdomToufik's World Organization, Antonova 10, Sumy, 40007, UkraineDepartment of Neurosurgery, Carl Von Ossietzky University Oldenburg, Oldenburg, GermanyOver the past two decades, genomics has transformed our understanding of various clinical conditions, with Chromosomal Microarray Analysis (CMA) standing out as a key technique. Offering unparalleled sensitivity, CMA detects submicroscopic chromosomal imbalances, enabling the examination of DNA for copy number variations, deletions, duplications, and other structural differences. In neurology, CMA has revolutionised diagnoses, personalised treatment plans, and patient outcomes. By identifying genetic anomalies linked to neurological conditions, CMA allows clinicians to tailor treatments based on individual genetic profiles, enhancing precision medicine. CMA's clinical utility spans numerous neurological conditions, providing crucial insights into neurodevelopmental disorders, CNS tumours, neurodegenerative diseases, cerebrovascular diseases, and epilepsy. In neurodevelopmental disorders, CMA aids in diagnosing autism and intellectual disabilities, facilitating early interventions that improve long-term outcomes. In epilepsy, CMA helps identify genetic causes of drug-resistant seizures, enabling more targeted therapies and reducing adverse reactions. CMA also aids in stratifying risk for cerebrovascular diseases, enabling preventive interventions that improve patient prognosis. Despite its potential, challenges remain, such as interpreting variants of uncertain significance (VOUS), the lack of standardised testing guidelines, and issues of cost and accessibility. Addressing these challenges will optimise CMA's impact, advancing personalised medicine and reshaping neurology. This review discusses CMA's pivotal role in bridging the gap between genomics and clinical practice, underscoring its potential to transform neurogenetics and ultimately improve patient care.http://www.sciencedirect.com/science/article/pii/S2772529425000165Chromosomal microarray analysisNeuro-geneticsNeurologyNeurosurgery |
| spellingShingle | Wireko Andrew Awuah Muhammad Hamza Shah Vivek Sanker Krishitha Meenu Mannan Sruthi Ranganathan Princess Afia Nkrumah-Boateng Mabel Frimpong Kwadwo Darko Joecelyn Kirani Tan Toufik Abdul-Rahman Oday Atallah Advances in chromosomal microarray analysis: Transforming neurology and neurosurgery Brain and Spine Chromosomal microarray analysis Neuro-genetics Neurology Neurosurgery |
| title | Advances in chromosomal microarray analysis: Transforming neurology and neurosurgery |
| title_full | Advances in chromosomal microarray analysis: Transforming neurology and neurosurgery |
| title_fullStr | Advances in chromosomal microarray analysis: Transforming neurology and neurosurgery |
| title_full_unstemmed | Advances in chromosomal microarray analysis: Transforming neurology and neurosurgery |
| title_short | Advances in chromosomal microarray analysis: Transforming neurology and neurosurgery |
| title_sort | advances in chromosomal microarray analysis transforming neurology and neurosurgery |
| topic | Chromosomal microarray analysis Neuro-genetics Neurology Neurosurgery |
| url | http://www.sciencedirect.com/science/article/pii/S2772529425000165 |
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