Siying Lin
A5021378628- Retinal Development and Disorders
- Retinal Diseases and Treatments
- RNA regulation and disease
- Genomics and Rare Diseases
- Advanced biosensing and bioanalysis techniques
- Glaucoma and retinal disorders
- Retinal and Optic Conditions
- Genetics and Neurodevelopmental Disorders
- melanin and skin pigmentation
- Genetic and Kidney Cyst Diseases
- Retinal Imaging and Analysis
- Systemic Lupus Erythematosus Research
- Genomic variations and chromosomal abnormalities
- Lysosomal Storage Disorders Research
- Drug-Induced Ocular Toxicity
- Biochemical Analysis and Sensing Techniques
- Ocular Disorders and Treatments
- Ophthalmology and Eye Disorders
- CRISPR and Genetic Engineering
- Retinopathy of Prematurity Studies
- Ocular Diseases and Behçet’s Syndrome
- Mitochondrial Function and Pathology
- Corneal surgery and disorders
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Advanced Control and Stabilization in Aerospace Systems
University College London
2023-2025
Moorfields Eye Hospital
2024-2025
National Institute for Health Research
2024-2025
Genomics (United Kingdom)
2022-2025
University of Manchester
2025
Manchester University NHS Foundation Trust
2025
Royal Devon & Exeter NHS Foundation Trust
2014-2024
University of Exeter
2018-2024
UCL Australia
2024
Guilin University of Electronic Technology
2024
Inherited retinal disease (IRD) is a leading cause of blindness. Recent advances in gene-directed therapies highlight the importance understanding genetic basis these disorders. This study details molecular spectrum large UK IRD patient cohort. Retrospective electronic records. Patients with who have attended Genetics Service at Moorfields Eye Hospital between 2003 and July 2020, whom diagnosis has been identified. Genetic testing was undertaken via combination single-gene testing, gene...
Abstract Purpose To quantify relevant fundus autofluorescence (FAF) image features cross-sectionally and longitudinally in a large cohort of inherited retinal diseases (IRDs) patients. Design Retrospective study imaging data (55-degree blue-FAF on Heidelberg Spectralis) from Participants Patients with clinical molecularly confirmed diagnosis IRD who have undergone FAF 55-degree at Moorfields Eye Hospital (MEH) the Royal Liverpool (RLH) between 2004 2019. Methods Five interest were defined:...
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together U5 and ∼30 proteins, is part of U4/U6.U5 tri-snRNP complex, located at core major spliceosome. Recently, recurrent de novo variants in RNA, transcribed from RNU4-2 gene, least two other RNU genes were discovered to cause neurodevelopmental disorder. We detected inherited heterozygous (n.18_19insA n.56T>C) four out five RNU6 paralogues (n.55_56insG n.56_57insG) 135 individuals 62 families non-syndromic retinitis...
To report findings in GUCA1A-associated retinopathy, a rare autosomal-dominant retinopathy. Clinical features and investigations from molecularly confirmed patients at large referral center were analyzed (retrospective cohort study). Nineteen (14 families), with five different variants, included: p.(Tyr99Cys) 10 families p.(Leu84Phe), p.(Ile107Thr), p.(Glu111Ala), p.(leu176Phe) 1 family each. Mean (SD) ages first last visits 38 (17) 48 (15) years, respectively. logMAR visual acuities the...
Abstract Up to 80% of rare disease patients remain undiagnosed after genomic sequencing 1 , with many probably involving pathogenic variants in yet be discovered disease–gene associations. To search for such associations, we developed a variant gene burden analytical framework Mendelian diseases, and applied it protein-coding from whole-genome 34,851 cases their family members recruited the 100,000 Genomes Project 2 . A total 141 new associations were identified, including five which...
To identify the genetic cause for disease in individuals affected with inherited retinal (IRD), to characterize their phenotype and properties of underlying gene. Participants underwent a comprehensive ophthalmological evaluation, including best-corrected visual acuity, field testing, fundus autofluorescence, optical coherence tomography electroretinography. Genetic analyses included exome, genome Sanger sequencing. Gene expression pattern was analyzed by reverse transcription-PCR....
SummaryInherited retinal diseases (IRDs) are a genetically heterogeneous group of Mendelian disorders that often lead to progressive vision loss and involve approximately 300 distinct genes. Although variants in these loci account for the majority molecular diagnoses, other genes associated with IRD await identification. In this study, we uncover bi-allelic assortments 23 different (22 loss-of-function) AP5Z1, AP5M1, AP5B1 as independent causes recessive members 19 families from nine...
We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding presumptive intracellular chloride channel highly expressed the retina, associated with autosomal recessive retinitis pigmentosa (arRP) eight consanguineous families of Pakistani descent. The p.D25E decreased CLCC1 function accompanied by accumulation mutant protein granules within ER lumen, while siRNA knockdown mRNA induced apoptosis cultured ARPE-19 cells. TALEN KO zebrafish was lethal 11 days post...
Different methods of isolating arabinoxylans (AXs) from triticale were performed to investigate the extraction methods’ effects on physiological functions AXs. Structural, antioxidant, and hypoglycemic activities determined. The molecular weights (MWs) enzyme- or water-extracted AXs lower than those alkali-extracted Opposite trends shown by arabinose–xylose ratio. Enzyme-extracted exhibited higher glucose adsorption capacity hydroxyl radical-scavenging efficiency α-amylase inhibition...
Importance Previous studies indicated that female sex might be a modifier in Stargardt disease, which is an ABCA4 -associated retinopathy. Objective To investigate whether women are overrepresented among individuals with retinopathy who carrying at least 1 mild allele or nonmild alleles. Data Sources Literature data, data from 2 European centers, and new study. Radboudumc database the Rotterdam Eye Hospital were used for exploratory hypothesis testing. Study Selection Studies investigating...
We sought to explore whether sex imbalances are discernible in several autosomally inherited macular dystrophies.
Oculocutaneous albinism type 1 (OCA1) is caused by pathogenic variants in the TYR (tyrosinase) gene which encodes critical and rate-limiting enzyme melanin synthesis. It most common OCA subtype found Caucasians, accounting for ~50% of cases worldwide. The apparent 'missing heritability' well described, with ~25-30% clinically diagnosed individuals lacking two clearly variants. Here we undertook empowered genetic studies an extensive multigenerational Amish family, alongside a review...
Introduction: The purpose of this project was to explore the current standards clinical care genetic testing and counseling for patients with inherited retinal diseases (IRDs) from perspective leading experts in selected European countries. Also, gather opinions on bottlenecks future solutions improve patient care. Methods: On initiative Vision Institute, a survey questionnaire 41 questions designed sent field ten Each participant asked answer reference situation their own country. Results:...
Oculocutaneous albinism (OCA) is a genetically heterogeneous condition that associated with reduced or absent melanin pigment in the skin, hair, and eyes, resulting vision, high sensitivity to light, rapid uncontrolled eye movements. To date, seventeen genes have been OCA including syndromic non-syndromic forms of condition. Whole exome sequencing (WES) was performed identify pathogenic variants nine Pakistani families OCA, validation segregation candidate using Sanger sequencing....
Genome analysis of individuals affected by retinitis pigmentosa (RP) identified two rare nucleotide substitutions at the same genomic location on chromosome 11 (g.61392563 [GRCh38]), 69 base pairs upstream start codon ciliopathy gene TMEM216 (c.-69G>A, c.-69G>T [GenBank: NM_001173991.3]), in South Asian and African ancestry, respectively. Genotypes included 71 homozygotes 3 mixed heterozygotes trans with a predicted loss-of-function allele. Haplotype showed single-nucleotide variants (SNVs)...
To quantify relevant fundus autofluorescence (FAF) features cross-sectionally and longitudinally in a large cohort of patients with inherited retinal diseases (IRDs). Retrospective study imaging data. Patients clinical molecularly confirmed diagnosis IRD who have undergone 55° FAF at Moorfields Eye Hospital (MEH) the Royal Liverpool between 2004 2019. Five interest were defined: vessels, optic disc, perimacular ring increased signal (ring), relative hypo-autofluorescence (hypo-AF),...
Abstract Purpose To determine certifications of visual impairment ( CVI s) due to diabetic retinopathy DR ) in a region that has operated screening since 1992. Methods A retrospective review all s was conducted, with mid‐year population estimates and diabetes prevalence model used the annual incidence certification from 2010 2013. For 2013, were also compared region. Results The total number 75; 52 sight impaired SI 23 severely SSI certifications; 25% patients had type 1, 75% 2 mellitus....
Biallelic variants in USH2A are associated with retinitis pigmentosa (RP) and Type 2 Usher Syndrome (USH2), leading to impaired vision and, additionally, hearing loss the latter. Although introduction of next-generation sequencing into clinical diagnostics has led a significant uplift molecular diagnostic rates, many patients remain molecularly unsolved. It is thought that non-coding or uncertain significance contribute significantly this gap. This study aims demonstrate utility reverse...
Autosomal recessive anophthalmia and microphthalmia are rare developmental eye defects occurring during early fetal development. Syndromic non-syndromic forms of demonstrate extensive genetic allelic heterogeneity. To date, disease mutations have been identified in 29 causative genes associated with microphthalmia, autosomal dominant, X-linked inheritance patterns described. Biallelic ALDH1A3 gene variants the leading causes countries frequent parental consanguinity. This study describes...
Abstract Ciliopathies are a clinically and genetically heterogeneous group of disorders often exhibiting phenotypic overlap caused by abnormalities in the structure or function cellular cilia. As such, precise molecular diagnosis is important for guiding clinical management genetic counseling. In present study, two Pakistani families comprising individuals with overlapping features suggestive ciliopathy syndrome, including intellectual disability, obesity, congenital retinal dystrophy,...