Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision
作者： Hugo J Bellen , Monte Westerfield10 , None
DOI: 10.1186/S13023-021-01839-9
关键词:
摘要: Decreased sequencing costs have led to an explosion of genetic and genomic data. These data revealed thousands candidate human disease variants. Establishing which variants cause phenotypes diseases, however, has remained challenging. Significant progress been made, including advances by the National Institutes Health (NIH)-funded Undiagnosed Diseases Network (UDN). However, 6000-13,000 additional genes remain be identified. The continued discovery rare diseases their underpinnings provides benefits affected patients, whom there are more than 400 million worldwide, also understanding mechanisms common diseases. Platforms employing model organisms enable novel gene-disease relationships, help establish variant pathogenicity, often lead exploration underlying pathophysiology that suggest new therapies. Model Organism Screening Center (MOSC) UDN is a unique resource dedicated utilizing informatics functional studies in organisms, worm (Caenorhabditis elegans), fly (Drosophila melanogaster), zebrafish (Danio rerio), aid diagnosis. MOSC directly contributed diagnosis challenging cases, multiple patients with complex, multi-organ phenotypes. In addition, framework for how basic scientists clinicians can collaborate drive diagnoses. Customized experimental plans take into account patient presentations, specific variant(s), appropriateness each organism analysis. generates bioinformatic tools reagents wider scientific community. Two elements instrumental its success (1) multidisciplinary teams expertise bioinformatics genetics, (2) ongoing communication clinical teams. Here we provide position statement regarding central role genes, advocate continuation expansion MOSC-type research entities as Organisms (MON) funded through grant applications submitted NIH, family groups focused on other philanthropic organizations, industry partnerships, sources support.
biomedcentral.com
sci-hub.st 参考文章(75)
Ann K. Corsi, A Transparent window into biology: A primer on Caenorhabditis elegans WormBook. pp. 1- 31 ,(2015) , 10.1895/WORMBOOK.1.177.1
John Postlethwait, Angel Amores, Allan Force, Yi-Lin Yan, THE ZEBRAFISH GENOME Methods in Cell Biology. ,vol. 60, pp. 149- 163 ,(1999) , 10.1016/S0091-679X(08)61898-1
Jessica X Chong, Kati J Buckingham, Shalini N Jhangiani, Corinne Boehm, Nara Sobreira, Joshua D Smith, Tanya M Harrell, Margaret J McMillin, Wojciech Wiszniewski, Tomasz Gambin, Zeynep H Coban Akdemir, Kimberly Doheny, Alan F Scott, Dimitri Avramopoulos, Aravinda Chakravarti, Julie Hoover-Fong, Debra Mathews, P Dane Witmer, Hua Ling, Kurt Hetrick, Lee Watkins, Karynne E Patterson, Frederic Reinier, Elizabeth Blue, Donna Muzny, Martin Kircher, Kaya Bilguvar, Francesc López-Giráldez, V Reid Sutton, Holly K Tabor, Suzanne M Leal, Murat Gunel, Shrikant Mane, Richard A Gibbs, Eric Boerwinkle, Ada Hamosh, Jay Shendure, James R Lupski, Richard P Lifton, David Valle, Deborah A Nickerson, Michael J Bamshad, None, The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities American Journal of Human Genetics. ,vol. 97, pp. 199- 215 ,(2015) , 10.1016/J.AJHG.2015.06.009
Ana Rath, Annie Olry, Ferdinand Dhombres, Maja Miličić Brandt, Bruno Urbero, Segolene Ayme, Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users. Human Mutation. ,vol. 33, pp. 803- 808 ,(2012) , 10.1002/HUMU.22078
Michael F. Wangler, Shinya Yamamoto, Hugo J. Bellen, Fruit Flies in Biomedical Research Genetics. ,vol. 199, pp. 639- 653 ,(2015) , 10.1534/GENETICS.114.171785
Kerstin Howe, Matthew D Clark, Carlos F Torroja, James Torrance, Camille Berthelot, Matthieu Muffato, John E Collins, Sean Humphray, Karen McLaren, Lucy Matthews, Stuart McLaren, Ian Sealy, Mario Caccamo, Carol Churcher, Carol Scott, Jeffrey C Barrett, Romke Koch, Gerd-Jörg Rauch, Simon White, William Chow, Britt Kilian, Leonor T Quintais, José A Guerra-Assunção, Yi Zhou, Yong Gu, Jennifer Yen, Jan-Hinnerk Vogel, Tina Eyre, Seth Redmond, Ruby Banerjee, Jianxiang Chi, Beiyuan Fu, Elizabeth Langley, Sean F Maguire, Gavin K Laird, David Lloyd, Emma Kenyon, Sarah Donaldson, Harminder Sehra, Jeff Almeida-King, Jane Loveland, Stephen Trevanion, Matt Jones, Mike Quail, Dave Willey, Adrienne Hunt, John Burton, Sarah Sims, Kirsten McLay, Bob Plumb, Joy Davis, Chris Clee, Karen Oliver, Richard Clark, Clare Riddle, David Elliott, Glen Threadgold, Glenn Harden, Darren Ware, Sharmin Begum, Beverley Mortimore, Giselle Kerry, Paul Heath, Benjamin Phillimore, Alan Tracey, Nicole Corby, Matthew Dunn, Christopher Johnson, Jonathan Wood, Susan Clark, Sarah Pelan, Guy Griffiths, Michelle Smith, Rebecca Glithero, Philip Howden, Nicholas Barker, Christine Lloyd, Christopher Stevens, Joanna Harley, Karen Holt, Georgios Panagiotidis, Jamieson Lovell, Helen Beasley, Carl Henderson, Daria Gordon, Katherine Auger, Deborah Wright, Joanna Collins, Claire Raisen, Lauren Dyer, Kenric Leung, Lauren Robertson, Kirsty Ambridge, Daniel Leongamornlert, Sarah McGuire, Ruth Gilderthorp, Coline Griffiths, Deepa Manthravadi, Sarah Nichol, Gary Barker, Siobhan Whitehead, Michael Kay, Jacqueline Brown, Clare Murnane, Emma Gray, Matthew Humphries, Neil Sycamore, Darren Barker, David Saunders, Justene Wallis, Anne Babbage, Sian Hammond, Maryam Mashreghi-Mohammadi, Lucy Barr, Sancha Martin, Paul Wray, Andrew Ellington, Nicholas Matthews, Matthew Ellwood, Rebecca Woodmansey, Graham Clark, James D Cooper, Anthony Tromans, Darren Grafham, Carl Skuce, Richard Pandian, Robert Andrews, Elliot Harrison, Andrew Kimberley, Jane Garnett, Nigel Fosker, Rebekah Hall, Patrick Garner, Daniel Kelly, Christine Bird, Sophie Palmer, Ines Gehring, Andrea Berger, Christopher M Dooley, Zübeyde Ersan-Ürün, Cigdem Eser, Horst Geiger, Maria Geisler, Lena Karotki, Anette Kirn, Judith Konantz, Martina Konantz, Martina Oberländer, Silke Rudolph-Geiger, Mathias Teucke, None, The zebrafish reference genome sequence and its relationship to the human genome. Nature. ,vol. 496, pp. 498- 503 ,(2013) , 10.1038/NATURE12111
Michael J. Bamshad, Jay A. Shendure, David Valle, Ada Hamosh, James R. Lupski, Richard A. Gibbs, Eric Boerwinkle, Richard P. Lifton, Mark Gerstein, Murat Gunel, Shrikant Mane, Deborah A. Nickerson, , The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. American Journal of Medical Genetics Part A. ,vol. 158, pp. 1523- 1525 ,(2012) , 10.1002/AJMG.A.35470
Hugo J. Bellen, Chao Tong, Hiroshi Tsuda, 100 years of Drosophila research and its impact on vertebrate neuroscience: a history lesson for the future Nature Reviews Neuroscience. ,vol. 11, pp. 514- 522 ,(2010) , 10.1038/NRN2839
James R. Lupski, John W. Belmont, Eric Boerwinkle, Richard A. Gibbs, Clan Genomics and the Complex Architecture of Human Disease Cell. ,vol. 147, pp. 32- 43 ,(2011) , 10.1016/J.CELL.2011.09.008
Kyota Aoyagi, Elsa Rossignol, Fadi F Hamdan, Ben Mulcahy, Lin Xie, Shinya Nagamatsu, Guy A Rouleau, Mei Zhen, Jacques L Michaud, None, A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis Human Mutation. ,vol. 36, pp. 753- 757 ,(2015) , 10.1002/HUMU.22797