https://www.whiffinlab.org/blog daily 0.75 2025-04-16 https://www.whiffinlab.org/blog/saturation-genome-editing-of-rnu4-2 monthly 0.5 2025-04-16 https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/36280f22-585e-4574-9990-562aaefe737b/SGE_explained+%281%29.png Blog - New research: saturation genome editing of RNU4-2 - Make it stand out Figure explaining the experimental approach. https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/b024f8a9-882d-45ee-b9e2-422fb219f2c8/RNU4-2_SGEgeneRegions.png Blog - New research: saturation genome editing of RNU4-2 - Make it stand out DNA changes, or variants, in different regions of RNU4-2 cause dominant ReNU syndrome (only one gene copy is disrupted) and a novel recessive disorder (both gene copies are disrupted). https://www.whiffinlab.org/blog/rnu4-2-the-small-gene-with-a-very-big-impact monthly 0.5 2024-08-16 https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/9ef9d9a7-65f6-412b-a311-3797e116733d/variant_singleStranded.png Blog - RNU4-2: the small gene with a very big impact - A genetic variant is a change in the DNA sequence. This example shows a change in the sequence of letters where one of the Ts has been changed to a G. https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/bfcae67a-329d-4b1f-b5b6-c68443608d06/Central+Dogma.png Blog - RNU4-2: the small gene with a very big impact - Make it stand out Genes are instructions for making molecules. Transcription is the process by which DNA is copied into RNA. To make a protein, the ‘messenger’ RNA (mRNA) is then translated. https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/7b450b1e-0052-4fad-a45e-8564fca6ad75/Splicing+%281%29.jpg Blog - RNU4-2: the small gene with a very big impact - Make it stand out Splicing is the process through which introns are removed from RNA. It is mediated by a large collection (or ‘complex’) of proteins and non-coding RNAs, called the spliceosome. U4 snRNA is one of the molecules that makes up the spliceosome. https://www.whiffinlab.org/blog/rare-disease-day-2022 monthly 0.5 2022-02-28 https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/36292619-cac2-4ca3-9ea0-a6cd3493b420/Card1_300million_TwitterFacebook.png Blog - Rare disease day 2022 - Make it stand out Whatever it is, the way you tell your story online can make all the difference. https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/3b893acf-1fd7-4c3a-bdbb-705da0c6d762/200+cancers.png Blog - Rare disease day 2022 - Make it stand out Whatever it is, the way you tell your story online can make all the difference. https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/8c8e4c12-c5f5-40b6-abe6-42b4434a61e3/Card7_Equity_TwitterFacebook.png Blog - Rare disease day 2022 - Make it stand out Whatever it is, the way you tell your story online can make all the difference. https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/fca69aaf-8daa-4910-909c-7ecf061e4979/RDD+2022+twitter+banner.png Blog - Rare disease day 2022 - Make it stand out Whatever it is, the way you tell your story online can make all the difference. https://www.whiffinlab.org/blog/new-collaboration-with-novo-nordisk-research-centre-oxford monthly 0.5 2022-02-14 https://www.whiffinlab.org/blog/dphil-student-nechama-wins-prize monthly 0.5 2021-11-18 https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/1637233672235-FVPYWRKGD7XV6D4K5UP8/PXL_20211117_190458496.jpg Blog - DPhil student Nechama wins prize https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/1637233675115-PSFPMJF7Q7ANAODVHX8U/PXL_20211117_194815891.jpg Blog - DPhil student Nechama wins prize https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/1637233673690-N7W6E64CORVWPR3JKIU5/PXL_20211117_195126458.jpg Blog - DPhil student Nechama wins prize https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/1637233767236-6KIICE6CE290XAWK1E4P/PXL_20211117_195200188.jpg Blog - DPhil student Nechama wins prize https://www.whiffinlab.org/blog/year1review monthly 0.5 2021-09-01 https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/1630492827459-0W0R37MTYO1EVFQOUQM3/labPic.jpeg Blog - CRDG: A year in review - Make it stand out The team during a lab meeting on Zoom https://www.whiffinlab.org/blog/non-coding-variants-in-ddd monthly 0.5 2021-05-21 https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/1621587361990-6M9RP445YV62U5IRYEXK/Screenshot+2021-05-21+at+09.55.46.png Blog - Non-coding region variants have an important role in developmental disorders - Make it stand out We identified variants in UTRs, which are regulatory elements that influence the amount of protein that is produced. https://www.whiffinlab.org/blog/new-group-members monthly 0.5 2020-10-27 https://www.whiffinlab.org/blog/six-lessons-for-variant-interpretation monthly 0.5 2020-05-27 https://www.whiffinlab.org/blog/nicky-is-awarded-a-sir-henry-dale-fellowship monthly 0.5 2020-04-03 https://www.whiffinlab.org/blog/hello-world- monthly 0.5 2020-01-16 https://www.whiffinlab.org/home daily 1.0 2026-04-07 https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/1585733581529-YV81D6M0429J5HB0NDFH/IMG_20190911_183005.jpg Home Research Find out more about our research. https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/f7f23008-45ab-4425-8f30-a97dde4a426d/LabPic.jpg Home Join us We are on the look out for talented individuals who would like to work with us. Please get in touch! https://www.whiffinlab.org/research daily 0.75 2026-04-08 https://www.whiffinlab.org/people daily 0.75 2026-04-08 https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/4aa7c744-7284-4a74-9954-0bd5119cb07e/Headshot_March26.jpg People - Nicky Whiffin Nicky is an Associate Professor and Wellcome Career Development Award Fellow, at the Big Data Institute and Centre for Human Genetics at the University of Oxford. She is also a member of St Anne’s College, and a visiting scientist at the Broad Institute of MIT and Harvard. Nicky was recently awarded a 2024 Research Prize from the Lister Institute of Preventative Medicine and the Balfour Lecture from the UK Genetics Society. Nicky’s undergraduate degree was in Natural Sciences at the University of Cambridge before she studied for a PhD in genetic susceptibility to Colorectal Cancer at the Institute of Cancer Research in London. During her postdoctoral work at Imperial College London, she developed tools and methods to improve interpretation of variants identified in patients with Inherited Heart Conditions. In her spare time Nicky enjoys playing (field) hockey, hiking, cooking and reading. LinkedIn, Bluesky https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/4530f65e-6bcd-492f-a4d9-8c2204137594/1.jpg People - Alex Blakes Alex is a postdoctoral researcher at CRDG. His work focuses on gene discovery, disease mechanisms, and therapeutics development in rare genetic conditions. Alex’s background is in clinical medicine. He completed his clinical training at the University of Oxford, and trained as an Academic Clinical Fellow in Paediatrics in Manchester. He completed a Wellcome Clinical Research Training Fellowship and a PhD in Medical Genetics at the University of Manchester. Outside of work, Alex loves playing spikeball, fly fishing, and listening to test cricket. https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/1627650933692-44H74ZVPYLD3OY05W256/1598513155621.jpeg People - Elston Neil D'Souza Elston is a DPhil Student and a Computational Research Assistant. His research focuses on using computational tools & data from large next generation sequencing studies to learn about the mechanisms behind deleterious variants and their role in rare genetic disease. Elston’s undergraduate and honours degrees were in Computational Biology at the Baker Heart and Diabetes Institute and Bio21 Institute for Molecular Biology, at the University of Melbourne, in Australia. In his spare time, he is an avid podcast geek and enjoys playing bass. @elston_neil https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/0ce029f5-540d-4b1a-a40b-9bbd8f6f2ebf/lab_website_picture.jpg People - Alyssa Parker Alyssa is a postdoctoral researcher studying how variation in gene expression contributes to rare genetic diseases. Alyssa completed her PhD in Human Genetics at Vanderbilt University. There she developed computational methods for detecting and monitoring clonal hematopoiesis. Alyssa completed her undergraduate studies in Genetics and Bioinformatics at Brigham Young University. She serves as a biocurator for ClinGen and leads a working group on liquid biopsy testing through the Cancer Genomics Consortium. Outside of science, Alyssa enjoys running, reading, and writing. https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/d0a98e01-0c40-46d7-8000-3fcd47402c46/366c41263cb3aa1779b5fb50b4e46398.png People - Zixi Hong ZiXi is a DPhil student in Genomic Medicine and Statistics. She is doing her rotation project with the CRDG team, focusing on the interpretation of snRNA variants in cancer cohorts. ZiXi completed her Bachelor in Medicine at Wuhan University, and later pursued a Doctor of Medicine, during which she found her interest in genomics. In her spare time, ZiXi practices Ashtanga and enjoys good food and nature greens. https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/c6158285-1cde-487c-a91b-69efcc32bf36/image+%2820%29.png People - Barney Hill Barney is a DPhil student in Genomic Medicine and Statistics, based at Merton College. His research focuses on making genetic medicines accessible for individuals with disease-causing mutations, using computational approaches to model RNA therapeutics. Barney recently worked as an research assistant at the Big Data Institute, and obtained his undergraduate degree in Mathematics from the University of Leeds, UK. In his spare time, he enjoys organising events and walking long distances. https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/273c588c-e282-4971-8211-171b8f71f80b/4333_008.jpg People - Ruebena Dawes Ruebena is a postdoctoral scientist working on a collaborative project with the Novo Nordisk Research Centre Oxford (NNRCO), focused on the role of small open reading frames in disease risk. Ruebena obtained her undergraduate degree in Applied Mathematics and Biochemistry, and her PhD in Medicine from The University of Sydney. Ruebena likes eating pasta and buying useless things at Oxfam. @RuebenaEDawes https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/ef853932-6462-4f9e-b737-2e455ac9b14d/photo_sir_2019.JPG People - Alex Petukhova-Greenstein Alex is a DPhil student in Cancer Science, funded by CRUK and jointly affiliated with the Church Lab. She uses computational approaches to study the genomic landscape and alternative splicing in colorectal cancer and Lynch syndrome–associated cancers, in the context of cancer vaccine development. Alex studied medicine at Charité in Berlin, Northwestern University in Chicago, and Sorbonne University in Paris. She completed her first doctoral degree at Yale University, New Haven, where she focused on magnetic resonance imaging in liver cancer, integrating computational modelling and machine learning algorithms to predict outcomes. After completing her medical training, she worked as a resident doctor in clinical genetics at Charité, specialising in hereditary cancers and performing whole-genome sequencing analysis for patients with rare diseases. In her spare time, Alex enjoys hiking, playing chess, and dancing. https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/0bddc83a-733c-4d99-a665-c000ac39de4e/1775641424554.jpeg People - Anthony McGuigan Anthony is a DPhil candidate in Genomic Medicine and Statistics supervised by Nicky Whiffin and Jenny Taylor. His research focuses on using DNA structural variants, specifically biallelic deletions, to facilitate novel gene discovery and new diagnoses. He also has an interest in digital phenotyping using electronic healthcare record data. Before his DPhil, Anthony worked as a statistician in the Civil Service, and graduated from the University of Cambridge in 2020 with an MPhil in Genomic Medicine and the University of Dundee in 2019 with a BSc in Biomedical Sciences. In his spare time he likes to run, write, and play piano (but not at the same time). https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/5799e7e8-475e-4fe2-92d2-449d9d55adbc/86075F50-3C88-4D74-B847-B672DD39111F_1_105_c.jpg People - Eloise Wells Eloise is a first year DPhil student reading Genomic Medicine and Statistics. Her rotation project focuses on untranslated regions, their role in expression, and how they might be targeted therapeutically to increase the expression of healthy alleles. Eloise recently worked as an advanced research assistant at the Wellcome Sanger institute, and holds an integrated-masters in Biological Sciences from the University of Sheffield, UK. In her spare time she will be rock climbing and cycling. @eloise96wells https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/4a905cbe-eff8-488e-9768-b5243ad8192b/7eb536ee-0662-4e32-bc8f-5950d19eaaf7.jpg People - Nicole Schafer Nicole is a DPhil candidate in Paediatrics, supervised by Nicky Whiffin and Stephan Saunders. Her research focuses on severity metrics in rare genetic disease using electronic healthcare record data in the Genomics England database. Before her DPhil, Nicole worked as an Academic Foundation Doctor in Hull, where her research focused on childhood epilepsy. She holds an MPhil in Genomic Medicine from the University of Cambridge, a Postgraduate Certificate in Healthcare Research and Statistics from the University of York, and obtained her medical degree at the University of Stellenbosch, South Africa. In her spare time, she enjoys cycling, reading, and spending time with her dogs. https://www.whiffinlab.org/join-us daily 0.75 2026-04-08 https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/1594128918463-V8FLUY8PTGR77JJQPDV6/IMG_20190911_183005.jpg Join us https://www.whiffinlab.org/publications daily 0.75 2026-04-07 https://www.whiffinlab.org/tools-and-software daily 0.75 2024-06-18 https://images.squarespace-cdn.com/content/v1/5e2065dbee32211da549a93c/1594917035416-2UHKEDAEWI4TECJP4L07/CardioClass_beta_ext_small.jpg Tools