Blindness Genomics and Transcriptomics laboratory
- July 2021 AWARD! During the ClinGen Virtual retreat 2021 Susanne Roosing was awarded with a ClinGen Significant Collaborator Award. The link can be found here.
- July 2021 NEW PUBLICATION! A new publication from PhD-student Zeinab Fadaie is accepted in Human Genetics and Genomics Advances. The publication 'Long read technologies identify a hidden inverted duplication in a family with choroideremia' is can soon be found online! Congratulations!
- June 2021 FUNDING! The Foundation Fighting Blindness has awarded the Career Development Award to Susanne Roosing. This award supports her research using long read approaches in currently unsolved cases! The award will support the research for 5 years. Thank you, Foundation Fighting Blindness!
- June 2021 NEW PUBLICATION! The first publication of PhD-student Janine Reurink 'Molecular inversion probe-based sequencing of USH2A exons and splice sites as a cost-effective screening tool for USH2 and arRP cases' is now published in International Journal of Molecular Sciences. The publication can be found here. Congratulations!
- May 2021 NEW PUBLICATION! The first publication of PhD-student Tabea Riepe 'Benchmarking deep learning splice prediction tools using functional splice assays' is now published in Human Mutation. The publication can be found here.
- April 2021 Former PhD-student Sanne Verbakel has won the prestigious Donders Binkhorst thesis award from the Dutch Ophthalmology Society (Nederlands Oogheelkundig Gezelschap). Congratulations, Sanne!
- March 2021 PhD-student Suzanne de Bruijn has been invited for an oral presentation during the virtual ARVO 2021! The abstracts of Susanne Roosing, and PhD student Janine Reurink are selected for an oral presentation! What a great achievement!
- March 2021 NEW PUBLICATION! A review is published by PhD-student Suzanne de Bruijn and Zeinab Fadaie in International Journal of Molecular Sciences.'The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss' Congratulations! The publication can be found here.
- March 2021 Susanne Roosing has joined the Retina International Panel Discussion organised for the International Women's Day on March 11th, 2021.
- March 2021 NEW PUBLICATION! A new publication from PhD-student Zeinab Fadaie is accepted in Journal of Medical Genetics. 'BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa' Congratulations!
- March 2021 TRAVEL GRANTS PhD-students Janine Reurink and visiting PhD-student Laura Whelan receive an ARVO travel grant to join the worldwide largest ophthalmology conference and present their work virtually in May 2021.
- February 2021 PhD-student Suzanne de Bruijn has won the 2020 best paper prize for her first-author publication on 'RP17' in American Journal of Human Genetics during the Sensory Disease Talent Award from the Sensory Disease Themed group. Congratulations, Suzanne!
- January 2021 Susanne Roosing has developed an explanatory newsletter for families with the RP17-defect. This letter explains in details our findings and opportunities for family-planning. An example can be found here.
- December 2020 The Radboud University magazine VOX published a non-corona edition including an interview with Susanne Roosing on the 'RP17' research in corona-times. The item (Dutch) can be found here.
- November 2020 The local newspaper 'Maasdriehoek' published (57.500 prints) an interview with an RP17-patient and Susanne Roosing on the impact of the 'RP17' research. The page-filling item (Dutch) can be found here (page 31).
- November 2020 During the digital Retina2020 meeting PhD-student Suzanne de Bruijn presented her recent AJHG-publication on the 'RP17' genetic finding. Also, PhD-student Janine Reurink and Zeinab Fadaie presented their work with a 'sizzler' in the poster-session.
- November 2020 Local newspaper 'Udens weekblad' published (31.000 prints) an interview with two RP17-patients on our recent 'RP17' publication. The page-filling item (Dutch) can be found here (page 7).
- October 2020 During the digital American Society of Human Genetics 2020 meeting Susanne Roosing and PhD-student Suzanne de Bruijn both presented a poster on recent whole genome sequencing efforts and the AJHG-publication on the 'RP17' genetic finding.
- October 2020 A podcast was recorded for the audiomagazine Horizon at www.iedereenkanlezen.nl with Susanne Roosing on the recent 'RP17' publication. The podcast (Dutch) can be found here.
- October 2020 PUBLICITY! Our publication on the genetic cause underlying RP17 is getting media attention! A Radboudumc press release (Dutch), an interview was published by RTL nieuws online (Dutch), a UCL press release by Prof. Alison Hardcastle, a Radboud University press release (English).
- October 2020 NEW PUBLICATION! Super excited to share 'Structural variants create new topological-associated domains and ectopic retinal-enhancer-gene contact in dominant retinitis pigmentosa', published in American Journal of Human Genetics. A great team-effort by PhD-student Suzanne de Bruijn and collaborators Prof. Alison Hardcastle and Prof. Mike Cheetham and many others. The publication can be found here.
- September 2020 Susanne Roosing serves as a guest editor together with Prof. Tamar Ben-Yosef on a special issue in International Journal of Molecular Sciences. The topic is inherited retinal disease clinical and molecular genetics, diagnosis, bioinformatics, and functional studies. For more info or submission follow the link!
- September 2020 Research technician Marco Aben found a new opportunity as a research technician in Wageningen. Good luck in your future job, Marco!
- August 2020 NEW PUBLICATION! Sex as a modifying role in ABCA4 associated Stargardt disease! Proud to have contributed to this study lead by Esmee Runhart and Claire-Marie Dhaenens! 'Association of Sex With ABCA4 Alleles in Stargardt Disease'.
- June 2020 An interview with Susanne Roosing was held during the Retina2019 meeting in Dublin in November 2019, which is published in Eurotimes. The article can be read here and here.
- June 2020 PhD-student Zeinab Fadaie presented her e-poster on her findings in monoallelic WGS datasets during the first online European Society of Human Genetics conference.
- June 2020 Susanne Roosing takes place in the manuscript examination and thesis defense committee for Dr. Elja Louer, in the aula of the Radboud Universiteit. Corona did not ruin the day, the defense could take place in real life for 30 people!
- June 2020 Research technician Femke Bults is leaving our team, unfortunately. She found a new opportunity as a research technician at the Translational Metabolic Laboratory in the Radboudumc. Good luck in your new job, Femke!
- May 2020 Susanne Roosing accepts a 5-year tenure track position at the Department of Human Genetics at the Radboudumc.
- April 2020 Bachelor student Fere van de Velde joins our research team. During her internship she will study several monoallelic IRD-cases as well as a family with a unique particular phenotype.
- April 2020 NEW PUBLICATION! The second publication from PhD-student Suzanne de Bruijn is accepted in Journal of Medical Genetics. Her publication describes an in-frame deletion in RIPOR2 as a frequent and highly penetrant cause of adult-onset hearing loss. Congratulations!
- March 2020 The abstract of PhD student Zeinab Fadaie is selected for a poster-presentation at the European Society of Human Genetics 2020! As the meeting will be a virtual meeting, Zeinab has the honor to present the first e-poster from our lab!
- February 2020 The abstracts of Susanne Roosing, PhD students Suzanne de Bruijn, Janine Reurink and visiting PhD-student Laura Whelan all are selected for an oral presentation at ARVO 2020! What a great achievement! Unfortunately, ARVO 2020 is canceled due to corona.
- February 2020 Bachelor students Jasmijn Schouten and Emma van Berkel start their first internships in our group in the hope to find the genetic defect in autosomal dominant retinal disease cases and Usher syndrome cases.
- January 2020 TRAVEL GRANTS PhD-students Janine Reurink and visiting PhD-student Laura Whelan receive an ARVO travel grant to visit the worldwide largest ophthalmology conference and present their work in Baltimore in May 2020.
- January 2020 BEST PRESENTATION AWARD PhD student Zeinab Fadaie receives the price for best presentation during the Donders Institute Sensory Disorder Talent award.
- January 2020 Tabea Riepe starts as a PhD student in the laboratory of Prof. Peter-Bram 't Hoen and Prof. Frans Cremers. Susanne Roosing will be co-supervising her in her 4-year project investigating retinal splicing motifs and improving prediction of potential splice site variants in retinal disease.
- January 2020 Victor de Jager starts as a bioinformatician and a PhD student. His focus will be to identify potential modifier variants in disease onset/progression of Stargardt disease supervised by Prof. Frans Cremers as well as the identification of novel retinal diseases genes and variants through whole genome sequencing supervised by Susanne Roosing.
- December 2019 PhD DEFENSE! PhD-student Sanne Verbakel defends her thesis entitled 'inherited retinal diseases; studies on genotype, phenotype and treatment' in the aula of the Radboud Universiteit. Congratulations Dr. Verbakel!
- December 2019 During the month on December we host a guest PhD-student from our Russian collaborator Dr. Marianna Ivanova to enhance our collaboration.
- November 2019 Susanne Roosing is invited to participate on an NIH Executive Committee for the ClinGen Ocular Clinical Domain Working Group (CDWG). This is an international effort to improve the utility of genetic testing by providing a central resource of clinically relevant genes and variants for ophthalmology, which is explained in more detail here.
- November 2019 Susanne Roosing is invited to visit the Retina meeting in Dublin and present her work 'Shedding light on unexplained inherited retinal diseases in Ireland and the Netherlands'.
- September 2019 PhD student Zeinab Fadaie presents a poster during the NVHG-BeSGH Annual symposium in Veldhoven, the Netherlands. The program can be found here.
- September 2019 During the 6th course of Eye Genetics in Bologna, Italy, Susanne Roosing gives a lecture on 'An introduction into next generation sequencing for eye diseases' and provides together with PhD student Janine Reurink a workshop on how to work with whole exome/genome sequencing data. The course program can be found here.
- August 2019 NEW PUBLICATION! PhD-student Zeinab Fadaie publishes her first first-author publication in Human Mutation entitled 'Identification of splice defects due to non-canonical splice site or deep-intronic variants in ABCA4'. Congratulations! The publication can be found here.
- June 2019 The Radboudumc awards Susanne Roosing with a highly competitive junior Principle Investigator position for the years 2020-2024.
- May 2019 During the ARVO 2019 meeting in Vancouver, Canada, Susanne Roosing and PhD students Suzanne de Bruijn and Zeinab Fadaie all present a poster on the recent findings in their studies. All posters are received well by the public!
- May 2019 PhD-student Laura Whelan is working on a joint project with Prof. Jane Farrar from Trinity College Dublin, Ireland. She will join our team for three months to exchange knowledge and enhance our collaboration.
- March 2019 During the PRO-retina meeting in Potsdam, Germany, Susanne Roosing presents her work as an invited speaker entitled 'Diagnostic and research explorations of WES and WGS in retinal disease'.
- April 2019 NEW PUBLICATION! PhD-student Sanne Verbakel and Zeinab Fadaie publish their work 'The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy' in Molecular Genetics & Genomic Medicine. The publication can be found here.
- January 2019 Truus Rütter from the local newspaper 'De stem van Grave' interviewed Susanne Roosing on DNA research and visionloss. The article was printed and published online and can be read here.
- January 2019 During the Donders Institute Sensory Disorder Talent award Susanne Roosing takes place in the jury. Prices are awarded to PhD students or post-docs for the best article and the best presentation on their publication from 2018.
- December 2018 Susanne Roosing takes place in the thesis defense committee for Dr. Rajani Battu, Maastricht University, Maastricht, the Netherlands.
- December 2018 The Dominant Cystoid Macular Degeneration patient group created an online brochure to emphasise why they need more money and are raising funds for research to identify the underlying mutation in their family. An interview with Susanne Roosing is embedded in the online video-brochure.
- December 2018 The Dutch Chapter of the Association of Research in Vision and Ophthalmology (ARVO), ARVO-NED, invited Susanne Roosing to present during the 'Big data and omics in Ophthalmology' meeting. Her presentation was entitled 'Whole genome sequencing and transcriptomics in retinal disease, the first experiences'.
- October 2018 The Dutch eyefoundation 'Oogfonds' published a small article on the funded project of Susanne Roosing
- October 2018 Marco Aben and Femke Bults join our team as research technicians.
- October 2018 Susanne Roosing is the Young researcher in focus of 2019-Q1 at www.vision-research.eu.
- October 2018 Susanne Roosing is an invited speaker at the European Reference Network-EYE (ERN-EYE) meeting in Florence, Italy and presents her work 'Follow-up research explorations (‘open-the exome’) of WES data sets for REDs and first results WGS of ‘WES-negative’ samples'. ERN-EYE is a unique and innovative cross-border cooperation platforms between specialists for the diagnosis and treatment of rare or low prevalence complex diseases.
- September 2018 Susanne Roosing takes place in the manuscript examination and thesis defense committee for Dr. Miriam Bauwens, Center for Medical Genetics Ghent (CMGG), Ghent, Belgium.
- September 2018 NEW PUBLICATION! PhD student Suzanne de Bruijn publishes her first first-author publication describing 'Homozygous variants in gene KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa' in the Journal of Medical Genetics. Congratulations!
- July 2018 Susanne Roosing is invited for award presentation at the EuroScience Open Forum (ESOF) in Toulouse, France. The 4-minute presentation for the European Young Researchers’ Award was entitled 'The power of collaboration: Increasing research impact for inherited retinal diseases by sharing candidate genes and patient resources'. here
- June 2018 Susanne Roosing is invited to be an associate editor for the journal Pediatric Research.
- June 2018 Janine Reurink joins as a PhD student on the project 'Identification and treatment of non-coding USH2A variants underlying Usher syndrome and retinitis pigmentosa'. Her thesis advisors are Prof. Frans Cremers, Prof. Hannie Kremer, Dr. Erwin van Wijk.
- May 2018 Susanne Roosing is elected to be a member of the Annual Meeting Program Committee for the cross sectional group Genetics for the largest annual vision research meeting ARVO. The membership is for ARVO 2019-2021.
- May 2018 During the ARVO meeting in Honolulu, USA, Susanne Roosing presented her work entitled 'Collaborating for gene discovery through the European Retinal Disease Consortium' as well as a poster on the finding of pathogenic variants in KIAA1549 leading to recessive retinitis pigmentosa
- January 2018 NEW PUBLICATION! Susanne Roosing publishes her first last-author publication in Genes describing the 'Identification of inherited retinal disease-associated genetic variants in 11 possible candidate genes'. The publication is the collection of candidate genes from the European Retinal Disease consortium. By sharing candidate genes, we hope to enable identification of additional families elsewhere and confirming the candidate genes as true retinal disease causing genes when mutated.
- October 2017 Susanne Roosing is selected for the Galilei Postdoc Talent Track Radboudumc, which is a 3.5yr program aimed at excellent postdocs who want to create their own niche in research, education and healthcare.
- August 2017 NEW PUBLICATION! Susanne Roosing publishes the last chapter from her thesis in the journal Genes entitled 'A rare form of retinal dystrophy caused by hypomorphic nonsense mutations in CEP290'.
- Juli 2017 Zeinab Fadaie starts as a PhD-student in our team. She will work the identification of non-canonical splice site variants and deep intronic variants underlying inherited retinal diseases. Her thesis advisors are Prof. Frans Cremers and Susanne Roosing.
- May 2017 Susanne Roosing presents her posters on study on the RP17 locus and she is a finalist for the members-in-training excellent poster award at the ARVO 2017 meeting in Baltimore, USA.
- March 2017 Suzanne de Bruijn starts as a PhD student in the challenging project to 'solve the unsolved'.
- February 2017 Susanne Roosing becomes a boardmember of the RP17 steunfonds. The RP17 steunfonds aims to collect funding to support the research to unravel the genetic defect causing autosomal dominant retinitis pigmentosa in their family.
- January 2017 Susanne Roosing accepts the position of boardmember of the European Retinal Disease Consortium.
- June 2016 Susanne Roosing returns to the Department of Human Genetics to start up her own line of research.