A5026071005- Retinal Development and Disorders
- Genomics and Rare Diseases
- Advanced biosensing and bioanalysis techniques
- Genetics and Neurodevelopmental Disorders
- Genetic and Kidney Cyst Diseases
- RNA modifications and cancer
- Cellular transport and secretion
- Hedgehog Signaling Pathway Studies
- Infant Health and Development
- Corneal Surgery and Treatments
- Respiratory and Cough-Related Research
- Genetic Syndromes and Imprinting
- Retinal Diseases and Treatments
- Congenital Ear and Nasal Anomalies
- Genomic variations and chromosomal abnormalities
- Advanced Nanomaterials in Catalysis
- Ocular Disorders and Treatments
- Ear Surgery and Otitis Media
- CRISPR and Genetic Engineering
University of Basel
2021-2025
Massachusetts Eye and Ear Infirmary
2024-2025
Harvard University
2024-2025
Institute of Molecular and Clinical Ophthalmology Basel
2021-2025
Islamia University of Bahawalpur
2020-2023
Fondation Asile des Aveugles
2023
University of Lausanne
2023
This study aimed to find the molecular basis of Bardet-Biedl syndrome (BBS) in Pakistani consanguineous families. A total 12 affected families were enrolled. Clinical investigations performed access BBS-associated phenotypes. Whole exome sequencing was conducted on one individual from each family. The computational functional analysis predicted variants’ pathogenic effects and modeled mutated proteins. Whole-exome revealed 9 variants six genes associated with BBS BBS6/MKS most common...
Intellectual disability (ID) is a highly heterogeneous disorder with hundreds of associated genes. Despite progress in the identification genetic causes ID following introduction high-throughput sequencing, about half affected individuals still remain without molecular diagnosis. Consanguineous families provide unique opportunity to identify novel recessive causative In this report, we describe autosomal neurodevelopmental disorder. We identified two consanguineous homozygous variants...
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)...
Abstract
 Aim: To explore the genetic cause of autosomal recessive retinitis pigmentosa in consanguineous families.
 Methods: The multi-centre study was conducted from July 2015 to June 2018 at Liaquat University Medical and health Sciences, Jamshoro, Sindh, Islamia University, Bahawalpur, Pakistan, comprised families affected with non-syndromic pigmentosa. Ophthalmological investigations were done assess fundus patients status disease. Pedigrees drawn family histories recorded...
Otitis media with effusion (OME) is a type of otitis (OM) characterized by the presence fluid behind intact tympanic membrane and one most common diseases early childhood. It an infectious disease associated many pathogenic bacteria in middle ear affected individuals. This study was aimed to determine prevalence Gram-positive from OME patients population Southern Punjab, Pakistan. The incidence under comprehensive healthcare setting investigated who consulted at department ear, throat nose,...
Prime editing (PE) is a CRISPR-based tool for genome engineering that can be applied to generate human induced pluripotent stem cell (hiPSC)-based disease models. PE technology safely introduces point mutations, small insertions, and deletions (indels) into the genome. It uses Cas9-nickase (nCas9) fused reverse transcriptase (RT) as an editor guide RNA (pegRNA), which desired edit with great precision without creating double-strand breaks (DSBs). leads minimal off-targets or indels when...
Congenital stationary night blindness (CSNB) is a rare, largely nonprogressive, inherited retinal disorder that can be clinically classified on the basis of fundus and electroretinogram abnormalities.We analyzed four large consanguineous families from Southern Punjab region Pakistan including multiple individuals affected with CSNB. Exome sequencing was performed in probands all families; Sanger additional members to test co-segregation variants identified.We identified two novel likely...
ABSTRACT Intellectual disability (ID) is a highly heterogeneous disorder with hundreds of associated genes. Despite progress in the identification genetic causes ID following introduction high-throughput sequencing, about half affected individuals still remain without molecular diagnosis. Consanguineous families provide unique opportunity to identify novel recessive causative In this report we describe autosomal neurodevelopmental disorder. We identified two consanguineous homozygous...