Positions
- Distinguished Service Professor
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Molecular & Human Genetics and Neuroscience
ÌÇÐÄvlogÃÛÌÒ of Medicine
- Chair in Neurogenetics
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Jan and Dan Duncan Neurological Research Institute
- March of Dimes Chair in Developmental Biology
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ÌÇÐÄvlogÃÛÌÒ of Medicine
- Faculty Member
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Graduate Programs in Development, Disease Models, and Therapeutics; Genetics & Genomics; and Neuroscience
ÌÇÐÄvlogÃÛÌÒ of Medicine
- Faculty Senator
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ÌÇÐÄvlogÃÛÌÒ of Medicine
Education
- MBA from Université Libre de Bruxelles
- 07/1976 - Brussels, Belgium
- Solvay Brussels School Economics & Management
- DVM from Ghent University
- 07/1983 - Ghent, Belgium
- PhD from University Of California, Davis
- 12/1986 - Davis, California, United States
- Post-Doctoral Fellowship at University Of Basel
- 08/1989 - Basel, Switzerland
Honors & Awards
- Member of American Association of Arts and Sciences
- Member of the National Academy of Sciences
Professional Interests
- Mitochondria and neuronal degeneration, and technology development
Professional Statement
One of the main aims of the research in my lab is to elucidate the molecular basis of neurodegeneration. Since no unbiased genetic screens in model organisms were performed to sample genes that cause neurodegenerative phenotypes, we embarked on such a screen in fly photoreceptors and isolated 700 mutations corresponding to 165 complementation groups. This screen has provided a very rich resource of novel mutants for the fly community and has permitted us to dissect mechanisms for a variety of diseases, including Charcot-Marie-Tooth disease, Leigh Syndrome, and Friedreich’s ataxia. This screen has also led to the identification of mutations in 32 genes that encode proteins that are targeted to mitochondria. By exploring the molecular mechanisms of these rare diseases, we were able to determine biochemical pathways that also play a role in Parkinson’s disease, Amyotrophic Lateral Sclerosis, and Alzheimer’s Disease. These pathways are now being studied intensely in the lab.
My lab as well as the laboratories of Michael Wangler and Shinya Yamamoto here at BCM were selected by the Undiagnosed Diseases Network (UDN) as the Drosophila Model Organism Screening Center (MOSC). Through close collaborations with human geneticists and physicians, we have identified variants in numerous human genes that are associated with neurological diseases in children. We have participated in the discovery of the genetic causes of 60 human diseases in the past ten years. We are also studying some of these genes in depth to determine the molecular events that underlie these diseases to identify targets to develop drugs and have been successful in identifying FDA approved drugs for four diseases.
My lab also plays an important role in developing new tools to manipulate flies and to generate reagents for the fly community. I have been the PI of the Gene Disruption Project for more than 20 years. The reagents that we have produced include more than 25,000 single transposable element insertion stocks in more than 70 percent of all fly genes. These stocks are currently distributed by the Bloomington Drosophila Stock Center (BDSC). Most recently we created a novel transposable element named MiMIC that allows a staggering array of manipulations of the fly genome in vivo. So far more than 17,000 lines have been created, of which 7,500 have been deposited in the BDSC. We have used these lines to tag 1,000 genes with a multifunctional tag that allows us to determine gene expression patterns in vivo, immunoprecipitations, ChIP, and in vivo protein inactivation. Finally, in collaboration with Norbert Perrimon at Harvard, we have developed the CRIMIC technology. This allows us to insert a small multifunctional cassette in almost any gene using CRISPR. We are in the process of inserting these very versatile tags in thousands of genes and have generated more than 3,500 tagged genes so far. We have excellent resources via NIH and private foundations.
My lab as well as the laboratories of Michael Wangler and Shinya Yamamoto here at BCM were selected by the Undiagnosed Diseases Network (UDN) as the Drosophila Model Organism Screening Center (MOSC). Through close collaborations with human geneticists and physicians, we have identified variants in numerous human genes that are associated with neurological diseases in children. We have participated in the discovery of the genetic causes of 60 human diseases in the past ten years. We are also studying some of these genes in depth to determine the molecular events that underlie these diseases to identify targets to develop drugs and have been successful in identifying FDA approved drugs for four diseases.
My lab also plays an important role in developing new tools to manipulate flies and to generate reagents for the fly community. I have been the PI of the Gene Disruption Project for more than 20 years. The reagents that we have produced include more than 25,000 single transposable element insertion stocks in more than 70 percent of all fly genes. These stocks are currently distributed by the Bloomington Drosophila Stock Center (BDSC). Most recently we created a novel transposable element named MiMIC that allows a staggering array of manipulations of the fly genome in vivo. So far more than 17,000 lines have been created, of which 7,500 have been deposited in the BDSC. We have used these lines to tag 1,000 genes with a multifunctional tag that allows us to determine gene expression patterns in vivo, immunoprecipitations, ChIP, and in vivo protein inactivation. Finally, in collaboration with Norbert Perrimon at Harvard, we have developed the CRIMIC technology. This allows us to insert a small multifunctional cassette in almost any gene using CRISPR. We are in the process of inserting these very versatile tags in thousands of genes and have generated more than 3,500 tagged genes so far. We have excellent resources via NIH and private foundations.
Selected Publications
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³Û²¹³¾²¹³¾´Ç³Ù´Ç S, K²¹²Ô³¦²¹â€¯O, W²¹²Ô²µ±ô±ð°ù M¹ó,‵þ±ð±ô±ô±ð²Ô H´³.&²Ô²ú²õ±è;&±ç³Ü´Ç³Ù; " ±·²¹³Ù R±ð±¹â€¯G±ð²Ô±ð³Ù.. 2024 Jan ; 25 : 46–60.
Pubmed PMID: . -
³Ò´Ç´Ç»å³¾²¹²Ô L¶Ù, R²¹±ô³ó²¹²Ô I, L¾±â€¯X, L³Ü S, M´Ç³Ü±ô³Ù´Ç²Ô M´³, P²¹°ù°ì Y´³, Z³ó²¹´Ç P, K²¹²Ô³¦²¹â€¯O, G³ó²¹»å±ð°ù±è´Ç³Ü°ù Z³§, J²¹³¦±ç³Ü±ð³¾²â²Ô J, S³ó³Ü±ô³¾²¹²Ô J²Ñ, A²Ô»å´Ç K, S³Ü²Ô K, I´Ç²¹²Ô²Ô´Ç³Ü M³§,‵þ±ð±ô±ô±ð²Ô H´³.&²Ô²ú²õ±è;&±ç³Ü´Ç³Ù; " ±·²¹³Ù N±ð³Ü°ù´Ç²õ³¦¾±.. 2024 Oct ; 27 : 1918–1933.
Pubmed PMID: . -
¶Ù³Ü³Ù³Ù²¹â€¯D, K²¹²Ô³¦²¹â€¯O,‵þ²â±ð´Ç²Ô S°, M²¹°ù³¦´Ç²µ±ô¾±±ð²õ±ð P°ä, Z³Ü´Ç Z, S³ó°ù¾±»å³ó²¹°ù²¹²Ô R³Õ, P²¹°ù°ì J±á, L¾±²Ô G, G±ð M, H±ð¾±³¾±ð°ù G, K´Ç³ó±ô±ð°ù J±·, W³ó±ð±ð±ô±ð°ù M°Õ, K²¹¾±±è±è²¹°ù±ð³Ù³Ù³Ü‵þ´¡, P²¹²Ô»å±ð²â A,‵þ±ð±ô±ô±ð²Ô H´³.&²Ô²ú²õ±è;&±ç³Ü´Ç³Ù; " ±·²¹³Ù M±ð³Ù²¹²ú.. 2023 Sep ; 5 : 1595–1614.
Pubmed PMID: . -
°ä³ó³Ü²Ô²µâ€¯H³¢, Y±ð Q, P²¹°ù°ì Y´³, Z³Ü´Ç Z, M´Ç°ì J°Â, K²¹²Ô³¦²¹â€¯O, T²¹³Ù³Ù¾±°ì´Ç³Ù²¹â€¯S³Ò, L³Ü S, P±ð°ù°ù¾±³¾´Ç²Ô N, L±ð±ð H°,‵þ±ð±ô±ô±ð²Ô H´³.&²Ô²ú²õ±è;&±ç³Ü´Ç³Ù; " °ä±ð±ô±ô M±ð³Ù²¹²ú.. 2023 May ; 35 : 855–874.
Pubmed PMID: .
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