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Alice started her scientific research career at The University of Manchester (UK), where she undertook a PhD in Molecular Genetics and Cell Biology investigating the role of bestrophin-1 in ocular disease. Her doctoral studies made a significant contribution to the field by elucidating underlying disease mechanisms, deciphering phenotype-genotype correlations and expanding the phenotypic spectrum of diseases. Her first postdoctoral position, at UCL Institute of Ophthalmology (IoO) UK, focused on identifying novel genetic causes of autosomal recessive retinal diseases by exploiting homozygosity mapping of consanguineous pedigrees and new developments in next generation sequencing methods. Alice’s research contributed to the identification of 6 novel genetic causes of ocular conditions including Leber’s congenital amaurosis, benign fleck retina and retinitis pigmentosa.
Alice subsequently undertook a second postdoctoral position at UCL IoO investigating the genetics of complex and monogenic corneal diseases, investigating a diverse range of conditions including keratoconus, X-linked megalocornea, epithelial recurrent erosion dystrophy and TGFBI-associated dystrophies. She developed a special interest in the genetic causes and molecular mechanisms underlying inherited corneal endothelial dystrophies (CEDs), and was awarded a Fight for Sight Early Career Investigator fellowship in 2015 to initiate her own independent research program at UCL IoO to focus on this area. Currently, her research program aims to understand the genetic origins of this disease group, which ranges from dominant polymorphous corneal dystrophy (PPCD) to the more common age-related condition Fuchs corneal endothelial dystrophy (FECD). She translates her genetic discoveries to understanding the pathophysiology of CEDs and developing novel diagnostic approaches and therapeutic strategies for patients with CEDs.
Alice subsequently undertook a second postdoctoral position at UCL IoO investigating the genetics of complex and monogenic corneal diseases, investigating a diverse range of conditions including keratoconus, X-linked megalocornea, epithelial recurrent erosion dystrophy and TGFBI-associated dystrophies. She developed a special interest in the genetic causes and molecular mechanisms underlying inherited corneal endothelial dystrophies (CEDs), and was awarded a Fight for Sight Early Career Investigator fellowship in 2015 to initiate her own independent research program at UCL IoO to focus on this area. Currently, her research program aims to understand the genetic origins of this disease group, which ranges from dominant polymorphous corneal dystrophy (PPCD) to the more common age-related condition Fuchs corneal endothelial dystrophy (FECD). She translates her genetic discoveries to understanding the pathophysiology of CEDs and developing novel diagnostic approaches and therapeutic strategies for patients with CEDs.
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论文共 57 篇作者统计合作学者相似作者
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Lubica Dudakova,Lenka Noskova,Stanislav Kmoch,Martin Filipec, Ales Filous,Alice E. Davidson, Vasileios Toulis,Jana Jedlickova,Pavlina Skalicka,Hana Hartmannova,Viktor Stranecky,Jana Drabova,
HUMAN MUTATION (2024)
Christina Zarouchlioti,Stephanie Efthymiou, Stefano Fracchini,Natalia Dominik,Nihar Bhattacharyya,Siyin Liu, Marcos Abreu Costa,Anita Szabo,Amanda N Sadan, Albert Jun,Enrico Bugiardini,Henry Houlden,
biorxiv(2024)
Karynne Patterson,Jessica x. Chong,Doug d. Chung, Walter Lisch,Carol l. Karp, Erling Dreisler,David Lockington,Jens m. Rohrbach,Dorota Garczarczyk-asim,Thomas Mueller, Stephen j. Tuft,Pavlina Skalicka,
AMERICAN JOURNAL OF OPHTHALMOLOGY (2024): 183-195
PLoS geneticsno. 5 (2024): e1011230-e1011230
biorxiv(2022)
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