{"id":13818,"date":"2025-04-29T00:00:00","date_gmt":"2025-04-28T21:00:00","guid":{"rendered":"https:\/\/www.sidra.org\/?p=13818"},"modified":"2025-05-05T10:10:58","modified_gmt":"2025-05-05T07:10:58","slug":"sidra-medicine-zebrafish-study-investigates-gene-linked-to-autism-and-epilepsy","status":"publish","type":"post","link":"https:\/\/www.sidra.org\/media\/news\/2025\/sidra-medicine-zebrafish-study-investigates-gene-linked-to-autism-and-epilepsy\/","title":{"rendered":"Sidra Medicine Zebrafish Study Investigates Gene Linked to Autism and Epilepsy"},"content":{"rendered":"\n

First-of-its-kind study in collaboration with QBRI offers hope for neurodevelopmental disorders research<\/strong><\/em><\/p>\n\n\n\n

29 April 2024, Doha, Qatar<\/strong> \u2013 Sidra Medicine<\/a> and Qatar Biomedical Research Institute<\/a> (QBRI) at Hamad Bin Khalifa University, have published a groundbreaking study marking the first creation of an autism zebrafish model in Qatar, to investigate a rare genetic mutation associated with both autism and epilepsy. The study highlights the power of precision medicine in advancing our understanding of complex neurodevelopmental disorders.<\/p>\n\n\n\n

Titled “Seizure-like behavior and hyperactivity in NAPB<\/a> knockout zebrafish as a<\/a> model for autism and epilepsy<\/a>,” the research focused on a gene called NAPB1<\/sup>, which was identified by the QBRI team, as a risk factor in a rare case involving identical Qatari triplets diagnosed with both autism and epilepsy. Using advanced CRISPR-Cas9 gene-editing technology, researchers at Sidra Medicine’s Zebrafish Facility created zebrafish with the same genetic mutation.<\/p>\n\n\n\n

The collaborative research was led by: Dr. Sahar Isa Da\u2019as, Research Manager and Mr. Waseem Hasan, Research Specialist III from Sidra Medicine and Dr. Yongsoo Park, Senior Scientist and Dr. Kyung Chul Shin, Postdoc from QBRI.<\/p>\n\n\n

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\"\"<\/figure><\/div>\n\n\n

Dr. Sahar Isa Da\u2019as, Research Manager at the Zebrafish Facility at Sidra Medicine, said: \u201cOur zebrafish research is an important step in translating rare genetic discoveries into real-world disease models. The zebrafish used in this study showed seizure-like movements and hyperactivity, which mirror the symptoms of autism and epilepsy seen in patients. This demonstrates how zebrafish can be a powerful tool for drug screening and testing personalized treatments.\u201d<\/p>\n\n\n\n

Dr. Yongsoo Park<\/a>, Senior Scientist at QBRI, said: \u201cBy combining behavioral studies with electrophysiological tests, such as microelectrode array (MEA) recordings, we gained insights into the mutation’s impact on brain development and nerve cell communication. Electrophysiological functional assays are useful to study the pathophysiology of neurodevelopmental disorders and develop personalized medicine\u201d.<\/p>\n\n\n\n

Unlike traditional in-vitro methods, which do not fully capture the complexities of neurodevelopmental disorders, zebrafish provide a dynamic and accurate model to study disease mechanisms. The approach also enables researchers to evaluate potential treatments tailored to the unique genetic profiles of individual patients, especially for conditions like heart disease, epilepsy and autism.<\/p>\n\n\n\n

Prof. Khalid Fakhro<\/a>, Chief Research Officer at Sidra Medicine, said: \u201cThis study marks a pivotal moment in Qatar\u2019s scientific progress, highlighting how integrated efforts across disciplines and institutions, such as our collaboration with QBRI, can advance biomedical research. By leveraging Qatar\u2019s growing expertise in genomics and functional biology, we are advancing our understanding of disease mechanisms at the molecular level and moving closer to developing innovative treatments that could transform patient care locally and globally.\u201d<\/p>\n\n\n\n

Prof. Omar Albagha<\/a>, Acting Executive Director at QBRI said: \u201cOur collaboration with Sidra Medicine reflects QBRI\u2019s commitment to advancing precision medicine and tackling neurodevelopmental disorders through cutting-edge research. By combining our scientific strengths, we are able to accelerate discoveries that hold real promise for children and families affected by rare genetic conditions.\u201d<\/p>\n\n\n\n

The Zebrafish Functional Genomics Facility at Sidra Medicine is leading research into inherited disorders, with a focus on rare diseases affecting children. Equipped with advanced technologies, the facility accelerates the identification of genetic causes and explores potential treatments. This project further strengthens Sidra Medicine\u2019s precision medicine approach, solidifying its position at the forefront of neurogenetic research in the region. To read the full study, click here<\/a>. <\/p>\n","protected":false},"excerpt":{"rendered":"Sidra Medicine and Qatar Biomedical Research Institute (QBRI) at Hamad Bin Khalifa University, have published a groundbreaking study marking the first creation of an autism zebrafish model in Qatar, to investigate a rare genetic mutation associated with both autism and epilepsy. The study highlights the power of precision medicine in advancing our understanding of complex neurodevelopmental disorders.","protected":false},"author":4,"featured_media":13819,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13176],"tags":[195598,195596,166832,195600],"class_list":["post-13818","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news","tag-autism-and-epilepsy","tag-genetic-mutation","tag-precision-medicine","tag-zebrafish-model"],"acf":[],"yoast_head":"\nSidra Medicine Zebrafish Study Investigates Gene Linked to Autism and Epilepsy - Sidra Medicine<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.sidra.org\/media\/news\/2025\/sidra-medicine-zebrafish-study-investigates-gene-linked-to-autism-and-epilepsy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Sidra Medicine Zebrafish Study Investigates Gene Linked to Autism and Epilepsy - Sidra Medicine\" \/>\n<meta property=\"og:description\" content=\"Sidra Medicine and Qatar Biomedical Research Institute (QBRI) at Hamad Bin Khalifa University, have published a groundbreaking study marking the first creation of an autism zebrafish model in Qatar, to investigate a rare genetic mutation associated with both autism and epilepsy. 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