Jenny Taylor, Genomic Medicine, University of Oxford

Dianne Newbury, CHG, University of Oxford

Peter Fish, CEO, Mendelian

Lawrence Impey, Nuffield Department of Women's and Reproductive Health

Christina Aye, Nuffield Department of Women's and Reproductive Health

Arjune Sen, Nuffield Department of Clinical Neurosciences, University of Oxford

Laurent Servais, Department of Paediatrics, University of Oxford

Christoffer Nellaker, Oxford Big Data Institute, University of Oxford

Taroh Kinoshita, RIDM, Osaka University, Japan

Yoshiko Murakami, RIDM, Osaka University, Japan

Tyler Pierson, Cedars Sinai, USA

Taisiia Sazonova

Kuki Davey

Eleanor Hogg

Ishita Bhatnagar

Kate Wilson

Lucy Loong

Agostina Tardivo

Lara Hawkes

Renata Oliviera

Rita Ibitoye

My research is inspired by a need to deliver patient benefit through enhanced diagnostics, improved understanding of the genetic basis of rare disease (particularly neurodevelopmental disorders, epilepsy and congenital malformations including structural brain abnormalities and orofacial clefting) and thereby formulating a path to developing and delivering targeted therapies as early as possible.

As the chief investigator for the OxFIT (Oxford Fetal In utero Therapy) project, www.wrh.ox.ac.uk/research/OxFIT-Oxford-Fetal-In-Utero-Therapy, I am currently leading multiple sub-studies that allow development of a clinical framework for in-utero therapy, early diagnosis, pre-clinical studies and clinical trials. Postnatal targeted therapies for severe genetic epilepsies is another active are of research within my group.

My group has previously published the discovery of several novel genes causing human disease such as PI4KA, HNRNPK, SOX11 and numerous GPI-Anchor Pathway genes including PGAP3, PIGY and PIGH. More extensive work on the GPI-AP has led to better understanding of the genotype-phenotype correlations and phenotypic spectrum in this pathway. My research has actively contributed to the characterisation of several new neurodevelopmental disorders caused by newly described genes, for example, USP9X, DDX3X, GATAD2B, SATB1.

My group has also been studied the molecular networks involved in orofacial clefting and speech disorders by examining data available from large-scale genetics studies such as Deciphering Developmental Disorders (DDD). Following on from this we have embarked upon a journey of exploring new neurodevelopmental disorders linked to the SATB pathway.

I also led the Genseize project, a transformation project (funded by NHSE via Central and South Genomic Medicine Service Alliance), aimed at offering sophisticated genetic testing to all patients with primary epilepsy. This project is an exemplar of engagement of primary care, community care and patient groups in delivering equity of access to genomic testing in the underserved populations.

Understanding the natural history of rare diseases is important in developing objective measurable outcomes for therapeutic trials. I have been the Principal Investigator for the NatHis Angelman Syndrome study UK (funded by the support group charity FAST UK). This study is being carried out in readiness for clinical trials.

Sasaki E, Millington P, et al. Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy. Eur J Hum Genet. 2025 Oct;33(10)

den Hoed J, de Boer E, et al. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. Am J Hum Genet. 2021 Feb 4;108(2):346-356 7

Pagnamenta AT, Murakami Y, et al. Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. Eur J Hum Genet. 2017 Jun;25(6):669-679.

Shieh C, Jones N, Vanle B, et al. GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med. 2020 May;22(5):878- 888.

Piard J, Hawkes L, et al. The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. Genet Med. 2019 Jun;21(6):1308-1318.

Adab N, Kini U, et al. The longer term outcome of children born to mothers with epilepsy. J Neurol Neurosurg Psychiatry. 2004 Nov;75(11):1575-83

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Jackson A, Blakes AJM, Alhaddad B, Henry OJ, Delgado-Vega AM, Wall E, Abdelhadi O, Agrawal S, Bakur K, Blair E, Brady AF, Brittain H, Chandler KE, Clarke N, Danelli M, Drinkall N, Duba I, Elmslie F, Ellingford J, Ewans LJ, Fennell AP, Gazdagh G, Heller SP, Hammarsjö A, Karrman K, Kini U, Lesko N, Lindstrand A, Macintosh R, Mansour S, Menzies L, Metcalfe K, Milhench A, Nashef L, O'Keefe RT, Pacheco NP, Palmer EE, Parida A, Prescott K, Redman M, Renieri A, Fallerini C, Rizzo CL, Sachdev R, Simons C, Sisodiya SM, Stewart H, Stödberg T, Banos-Pinero B, Taylan F, Thomas HB, Tinella F, Wiafe S, Wedell A, Whiffin N, Walker S, Rius R, Chae JH, Nordgren A, Alkuraya F, Lord J, Banka S.  Nat Genet. 2026 Apr;58(4):798-809. 

Uridine-responsive epileptic encephalopathy: Precision treatment across the age spectrum - a case series.

Sekhon G, Caballero AP, Eltze C, Wortmann SB, Kini U, Bird-Lieberman G, Hughes S, Mankad K, Elkhateeb N, O'Rourke D, Selim L, Smith M, Watt-Coote I, Shribman S, Murphy E, Galtrey C, Davison J, McTague A.  Seizure. 2026 Jul;139:70-74. doi: 10.1016/j.seizure. 2026 Apr 17. 

Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4

Gunawardena K, De Falco A, Osio D, Sherlock E, Kivuva E, Sasaki E, Sansbury FH, Lahiri N, Foley P, Mansour S, McKee S, Ashraf T, Brunetti-Pierri N, Kini U. . Am J Med Genet C Semin Med Genet. 2026 Apr 13. 

Identifying the Impacts, Obstacles and Information Barriers for Parents of Children Living With Genetic Neurodevelopmental Disorders: A Qualitative Study

Low KJ; GenROC Consortium; Treneman-Evans G, Wynn SL, Ingram J. . Health Expect. 2025 Aug;28(4)

Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology

Salazar-Villacorta A, Spaull R, Chowdhury S, Mukhtyar B, Chitre M, Armstrong R, Sa M, Chandratre S, Kini U, Chinthapalli R, Mankad K, Sudhakar S, Pope S, Heales S, Kurian MA. . Mov Disord Clin Pract. 2024 Sep;11(9):1149-1152. 

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype

Sarli C, van der Laan L, Reilly J, Trajkova S, Carli D, Brusco A, Levy MA, Relator R, Kerkhof J, McConkey H, Tedder ML, Skinner C, Alders M, Henneman P, Hennekam RCM, Ciaccio C, D'Arrigo S, Vitobello A, Faivre L, Weber S, Vincent-Devulder A, Perrin L, Bourgois A, Yamamoto T, Metcalfe K, Zollino M, Kini U, Oliveira D, Sousa SB, Williams D, Cappuccio G, Sadikovic B, Brunetti-Pierri N. . Am J Med Genet C Semin Med Genet. 2024 Dec;19