NEWS

2024

June 2024 - mid October 2024 Maternity leave Susanne Roosing
February 2024 NEW PUBLICATION! Kim Rodenburg and Susanne Roosing contributed to a publication describing UBAP1L as a novel gene underlying inherited retinal disease. The publication in the journal Genetics in Medicine 'Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration' is can be found here!
February 2024 Research intern Oktay Cholak joined our group for the next five months.

2023

November 2023 Susanne Roosing and Suzanne de Bruijn organized a family meeting for patients and relatives affected by Dominant Cystoid Macular Degeneration. There were presentations by researchers, an ophthalmologist and a clinical geneticist. There were 65 participants and the day was very well received!
November 2023 NEW PUBLICATION! Susanne Roosing contributed to a publication of a large review of rhegmatogenous retinal detachment. The publication 'The genetics and disease mechanisms of rhegmatogenous retinal detachment.' is published in Progress in retinal and eye research!
October 2023 EXECUTIVE EDITOR! Susanne Roosing is now an executive editor for the journal 'Experimental Eye Research', led by Steven Fliesler.
January 2022 Lara Holtes joins our team as a PhD-student. Welcome and good luck!
August 2023 NEW PUBLICATION! Guest PhD-student María Rodriguez-Hidalgo has has published her publication entitled 'ABCA4 c.6480-35A>G, a novel branchpoint variant caused partial intron retention' in Frontiers in Genetics. Congratulations, María! The publication can be found here.
August 2023 Guest researcher Mohammed Derar joined us from Leeds,UK for a stay of one month! Welcome Moe!
July 2023 FUNDING! A Starter grant of 240.000 Euro has been awarded to Susanne Roosing by the Radboudumc. This grant is intended to alleviate work-pressure.
May 2023 PRIZE! Previous Guest PhD-student María Rodriguez-Hidalgo has received the oral communication award during the VIII international congres of Research in Retina and Vision in Alicante, Spain, for her presentation entitled 'ABCA4 c.6480-35A>G, a novel branchpoint variant caused partial intron retention' Congratulations, María!
April 2023 There was a press release on the PhD defense by Janine and the topic of her thesis. The title is 'Mutatie veroorzaakt wel - niet - wel blindheid
Janine Reurink beslist langdurige controverse met impact voor de zorg'. The press release can be found here.
April 2023 PhD DEFENSE! Janine Reurink has successfully defended her thesis! It was a great day! Janine will continue her work as a postdoctoral researcher in the field of deafness genetics with Prof. Hannie Kremer within the same department. Congratulations, Janine!
April 2023 NEW PUBLICATION! Susanne Roosing contributed to a publication of the first study in high myopia. The publication 'Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing' is can be found here!
March 2023 FUNDING! The Horizon Europe MSCA Doctoral Networks was awarded and we are part of it! The network entitled : 'European Training Program to Understand, Diagnose and Treat Autosomal Dominant Retinal Diseases' will be initiated in fall 2023 and will contain one PhD-position in this team!
March 2023 PRIZE! PhD-student Janine Reurink has won the 2022 best paper prize for her first-author publication on the pathogenicity of the p.(Cys759Phe) variant in USH2A in Human Genetics and Genomics Advances during the Sensory Disease Talent Award from the Sensory Disease Themed group. Congratulations, Janine!
February 2023 FUNDING! The Nederlandse Oogonderzoek Stichting has awarded funding to Susanne Roosing and Suzanne de Bruijn to continue the study for the genetic cause underlying Dominant Cystoid Macular Dystrophy (DCMD) in a large Dutch family.
February 2023 NEW PUBLICATION! Congratulation for the first publication in our team from postdoc Daan Panneman is published in Frontiers in Genetics. The publication 'Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis' is can be found here! Congrats!!
January 2023 NEW PUBLICATION! The last chapter of the PhD-student Janine Reurink was accepted in Human Genetics and Genomics Advances. The publication 'Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction' is can be found here! Congratulations!
January 2023 Guest researcher Dalila Capasso joined us from Naples, Italy for a stay of one year! Welcome Dalila!

2022

December 2022 NEW PUBLICATION! Postdoc Suzanne de Bruijn and PhD-student Kim Rodenburg published our 'lessons learned' from structural variant analysis in the journal Genetics in Medicine. The paper 'Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes' can be found here. Congrats!!
December 2022 NEW PUBLICATION! Postdoc Rebekkah Hitti-Malin published her first paper in Human Mutation entitled 'Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases'. Congratulations!! The publication can be found here.
December 2022 PhD DEFENSE! The thesis of PhD-student Janine Reurink is approved! She will defend her thesis on April 6th 2023!
November 2022 NEW PUBLICATION! A new publication from PhD-student Janine Reurink is published in International Journal of Molecular Sciences. The publication 'Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A' can be found here.
November 2022 Guest researcher Roberta Zeuli joined us from Naples, Italy for a stay of 6 months! Welcome Roberta!
June 2022 There was a press release on the Foundation Fighting Blindness Project Program Award that was granted to study the RP17 defect awarded. The press release can be found here .
June 2022 FUNDING! The Foundation Fighting Blindness has awarded the Project Program Award to Susanne Roosing and co-PI Suzanne de Bruijn, together with Prof. Alison Hardcastle and Prof. Mike Cheetham (UCL). The study will investigate the novel disease mechanism for autosomal dominant retinitis pigmentosa type 17 and explore therapeutic approaches.
June 2022 - mid October 2022 Maternity leave Susanne Roosing
June 2022 Guest PhD-student María Rodriguez-Hidalgo joined us from San Sebastian, Spain for a stay of 6 months! Welcome María!
May 2022 NEW PUBLICATION! A new publication of PhD-student Janine Reurink is published in NPJ Genomic Medicine and describes the pathogenicity of the commonly found p.(Cys759Phe) variant in USH2A. Congratulations!! Here is the link!
May 2022 POSTER PRIZE! Just 4 months after starting her project, PhD-student Kim Rodenburg has won the third prize for her poster at the Clinical genomics and NGS course in Bertinoro, Italy. Well done, Kim!!
April 2022 NEW PUBLICATION! The last publication from the thesis of former PhD-student Zeinab Fadaie as a shared first-author with Dr. Irene Vázquez Domínguez and Catherina Li is now published in IOVS 'Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy'. A big congrats!! Here is the link!
April 2022 An interview with former PhD-student Zeinab Fadaie and PhD-student Laura Whelan was included in the Fight Blindness's spring visionaries newsletter (page 5) on our publication 'Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases'.
April 2022 Guest PhD-student Rabia Basharat joined us from Islamabad, Pakistan for a stay of 6 months! Welcome Rabia!
March 2022 PhD-student Janine Reurink has been selected for an oral presentation for the European Society of Human Genetics 2022 meeting in Vienna! Great news!
March 2022 TRAVEL GRANTS Postdoc Suzanne de Bruijn has been selected for an oral presentation for the ARVO 2022 meeting in Denver! The abstracts of Susanne Roosing, and PhD student Janine Reurink and Laura Whelan are selected for a poster presentation! Suzanne, Janine and Laura also received the ARVO travel award!
February 2022 PhD DEFENSE! Suzanne de Bruijn has successfully defended her thesis! She received the predicate Cum laude !! It was a great day with a well-deserved party! Suzanne is staying with us for a postdoc! Congratulations, Suzanne!
February 2022 Suzanne de Bruijn has contributed to the Radboud Research Rounds Technology Edition - iPSCs: the building blocks of disease modelling with a presentation entitled 'Differentiating stem cells as a tool to investigate inherited sensory diseases'
January 2022 The magazine Scope has published an interview with Susanne Roosing and Frans Cremers on the hidden causes of vision loss (in Dutch).
January 2022 Graduated PhD-student Zeinab Fadaie had an interview on her CHM-publication from July 2021 for the magazine Drug Discovery News.
January 2022 Kim Rodenburg joins our team as a PhD-student. Welcome and good luck!

2021

November 2021 Susanne Roosing and Suzanne de Bruijn both presented their work during the hybrid ERN-EYE meeting. Susanne presented 'Unrecognized types of pathogenic variants underlying inherited retinal diseases' and Suzanne presented 'Structural Variants Create New Topological Associated Domains and Ectopic Retinal Enhancer-Gene Contact'.
November 2021 PhD DEFENSE! Zeinab Fadaie has successfully defended her thesis! It was a great day! Zeinab has continued her work as a postdoctoral researcher in the Princes Maxima Centrum in Utrecht. Congratulations, Zeinab!
November 2021 PRIZE Laura Whelan is the winner of the Geraldine Duggan Early Investigator Award for her presentation 'Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases'. A well-deserved congratulation!!
November 2021 NEW PUBLICATION! Our latest publication 'Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases' from PhD-student Zeinab Fadaie and Laura Whelan is now online in NPJ Genomic Medicine. A big congrats!!
October 2021 At world-sight day, October 14th, Susanne Roosing will present 'the complexity of inherited retinal disease' during the DARTER retina workshop
October 2021 PhD-student Janine Reurink is selected for a poster-sizzler for the virtual Retina2021 meeting. PhD-student Laura Whelan is selected for a presentation on our large WGS study.
September 2021 Susanne Roosing has been elected as the Chair of the European Retinal Disease Consortium.
September 2021 Research intern Sako Seferyan joined our group for the next five months.
September 2021 PRIZE PhD-student Laura Whelan won the inaugural Dr Kathleen Lynn Award as the best young investigator prize for her presentation 'Whole genome sequencing and in vitro splice assays in over 100 previously unresolved inherited retinal disease probands' during the Women in Vision Research Ireland Conference. Congratulations, Laura!
September 2021 TRAVEL GRANT PhD-student Laura Whelan won the Travel Fellowship to attend the XIXth International Symposium on Retinal Degenerations (RD2021) and the BrightFocus Macular Fast TrackSM. Congrats!! She has presented her poster entitled: 'Whole genome and whole ABCA4 gene sequencing reveal genetic causes for previously unresolved inherited retinal diseases' virtually due to COVID-19.
September 2021 Bioinformatician Victor de Jager found a new opportunity at the department of microbiology at the Wageningen UR. Good luck in the future, Victor!
September 2021 NEW PUBLICATION! A new publication from PhD-student Suzanne de Bruijn. The publication 'Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant' was published in Human Genetics!
August 2021 PhD DEFENSE! The thesis of PhD-student Suzanne de Bruijn is approved! She will defend her thesis on February 18th 2022!
August 2021 PhD DEFENSE! The thesis of PhD-student Zeinab Fadaie is approved! She will defend her thesis on November 18th 2021!
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 be found here! 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 Daan Panneman has joined our team as a postdoc on the RP/LCA project to assess thousands of unsolved cases through the smMIPs approach.
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.

2020

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. Zeinab won the poster-sizzler award!
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'.
March 2021 Rebekkah Hitti-Malin has joined our team as a post-doc on the iMD/AMD project to assess thousands of unsolved cases through the smMIPs approach.
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.

2019

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.

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.

2017

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.

2016

June 2016 Susanne Roosing returns to the Department of Human Genetics to start up her own line of research.