Human Birth Defects From Diagnosis to Gene Function

Lead Research Organisation: University College London
Department Name: Unlisted


Abstracts are not currently available in GtR for all funded research. This is normally because the abstract was not required at the time of proposal submission, but may be because it included sensitive information such as personal details.
Description BHF Programme Grant
Amount £1,000,000 (GBP)
Organisation British Heart Foundation (BHF) 
Sector Charity/Non Profit
Country United Kingdom
Start 09/2006 
End 08/2011
Title HDBR 
Description Human embryo and foetal material 
Type Of Material Database/Collection of Data/Biological Samples 
Year Produced 2006 
Provided To Others? Yes  
Impact Major support from Wellcome MRC for main part of this activity, but co-op provided additional finance. Several papers with data from HDBR material (but not primarily as a result of the co-op) 
Description EuroGeNet 
Organisation Telethon Foundation
Department Telethon Institute of Genetics and Medicine (TIGEM)
Country Italy 
Sector Charity/Non Profit 
PI Contribution We have conducted epistasis experiments in mouse and fish.
Collaborator Contribution We have received clones and mouse lines. We have shared information and publsihed jointly
Impact PMID: 19700621 PMID: 19855134 PMID: 20122914
Start Year 2008
Description UK10K 
Organisation The Wellcome Trust Sanger Institute
Department Human Genetics
Country United Kingdom 
Sector Academic/University 
PI Contribution We have collaborated with the UK10K "Rare" sequencing consortium and identified several novel genes mutated in ciliopathy spectrum disorders
Collaborator Contribution Sanger Centre provided the sequencing data and first pass bioinformatic analysis
Impact 1: Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ, Elçioglu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC, Kayserili H, Scambler PJ, Beales PL; UK10K, Knoers NV, Roepman R, Mitchison HM. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet. 2013 May;50(5):309-23. doi: 10.1136/jmedgenet-2012-101284. Epub 2013 Mar 1. PubMed PMID: 23456818; PubMed Central PMCID: PMC3627132. 2: Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanovic R, Peco-Antic A, Mache C, Hurles ME, Joksic I, Guc-Šcekic M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C. Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. Hum Mutat. 2013 May;34(5):714-24. doi: 10.1002/humu.22294. PubMed PMID: 23418020. 3: Onoufriadis A, Paff T, Antony D, Shoemark A, Micha D, Kuyt B, Schmidts M, Petridi S, Dankert-Roelse JE, Haarman EG, Daniels JM, Emes RD, Wilson R, Hogg C, Scambler PJ, Chung EM; UK10K, Pals G, Mitchison HM. Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. Am J Hum Genet. 2013 Jan 10;92(1):88-98. doi: 10.1016/j.ajhg.2012.11.002. Epub 2012 Dec 20. PubMed PMID: 23261303; PubMed Central PMCID: PMC3542455. 4: Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD; Uk10k, Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum Mutat. 2013 Mar;34(3):462-72. doi: 10.1002/humu.22261. Epub 2013 Feb 11. PubMed PMID: 23255504; PubMed Central PMCID: PMC3630464. 5: McInerney-Leo AM, Schmidts M, Cortés CR, Leo PJ, Gener B, Courtney AD, Gardiner B, Harris JA, Lu Y, Marshall M; UK10K Consortium, Scambler PJ, Beales PL, Brown MA, Zankl A, Mitchison HM, Duncan EL, Wicking C. Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60. Am J Hum Genet. 2013 Sep 5;93(3):515-23. doi: 10.1016/j.ajhg.2013.06.022. Epub 2013 Aug 1. PubMed PMID: 23910462; PubMed Central PMCID: PMC3769922.
Start Year 2009
Description Parents meetings - MAxAppeal!, Shwachman Diamond Support 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Primary Audience Participants in your research and patient groups
Results and Impact Annual meetings

Year(s) Of Engagement Activity 2006,2007,2008