Introduction

Pakistan is set to witness a groundbreaking advancement in its healthcare system with the establishment of the country's first Ophthalmic Genetics Department with a state-of-the-art Lab. Ophthalmic genetics is a specialized field that focuses on understanding the genetic basis of eye diseases. Genetic disorders affecting the eyes can range from relatively common conditions like glaucoma and cataracts to rare but severe diseases such as retinitis pigmentosa, Leber congenital amaurosis, and various forms of retinal dystrophies. Between 40-70% of childhood blindness in East-Mediterranean region is hereditary in nature. By studying the genetic underpinnings of these conditions, scientists and clinicians can develop targeted therapies and interventions that go beyond symptomatic treatment, addressing the root cause of the disease. Pakistan, with its diverse and dense population, presents a unique genetic landscape. The high prevalence of consanguineous marriages—marriages between closely related individuals—has contributed to a significantly higher incidence of genetic disorders compared to many other countries. Genetic eye diseases are no exception, often leading to severe visual impairment or blindness at an early age. These conditions not only affect the individuals but also place a substantial burden on families and the healthcare system.

Aims of Department

Here are a few key aims for the country's first Ophthalmic Genetics Department:

1. Diagnosis and Treatment: To provide accurate genetic diagnosis and targeted treatment options for patients with inherited eye diseases, improving patient outcomes and quality of life.
2. Research and Innovation: To advance research in the field of ophthalmic genetics, leading to new discoveries and innovative treatments that can benefit patients both nationally and globally.
3. Education and Training: To train and educate healthcare professionals and researchers in the latest genetic technologies and methodologies, fostering a new generation of experts in ophthalmic genetics.
4. Public Awareness: To raise awareness about genetic eye disorders and the importance of early diagnosis and intervention within the community, helping to reduce the incidence of preventable blindness.
5. Collaborative Networks: To establish national and international collaborations with other genetics and ophthalmology centers, enhancing the sharing of knowledge, resources, and expertise for better patient care and research outcomes.

 

Services Provided by Ophthalmic Genetics Lab

A molecular genetics lab equipped with Whole Genome Sequencing (WGS), Whole Exome Sequencing (WES), Clinical exome sequencing, Panel sequencing, Restriction fragment length polymorphism (RFLP), Primer designing, targeted sequencing and other essential equipment, along with a state of the art bioinformatics server, can offer a wide range of services:

Clinical Genetics

• Genetic counselling
• Genetic testing
• Carrier status identification
• RFLP

Genomic Sequencing Services

• Whole Genome Sequencing (WGS)
• Whole Exome Sequencing (WES)
• Clinical Exome Sequencing
• Panel Sequencing
• Whole transcriptome sequencing
• Genotyping by sequencing
• Targeted sequencing

 

Bioinformatics Services

Data Analysis and Interpretation

• WGS data analysis
• RNAseq data analysis
• WES data analysis
• GWAS
• ChIP-Seq data analysis
• Metagenomics data analysis (targeted e.g 16s, ITS and Whole Genome)
• Molecular dynamics simulation

Custom pipeline and bioinformatics software Development

• R language
• Python
• Linux (Ubuntu)
• Nextflow
• nf-core pipelines
• bash
• SQL
• JS

 

Team