CENTER FOR GENOMIC SCIENCES
• Genetic testing of breast cancer, BRCA1/2
• Pediatric congenital diseases
• Muscular dystrophy, DMD gene testing
• Genetics based HLA typing
• TP53 gene testing
• RDS/Peripherin gene testing
• Microbiome Shotgun sequencing
• PCR products sequencing (>300bp)
• Customized genetic testing
• Clinical whole-exome sequencing (WES)
• Experimental design to execute in collaboration with academia and/or R&D
• Bioinformatics analysis
• NGS Hands-on training for library preparation and Data Analysis
Illumina sequencing technology, sequencing by synthesis (SBS), is a worldwide embraced NGS technology. By using proprietary method, SBS technology offers high-resolution genome sequencing through capability of both short-insert and long-insert, paired-end libraries for efficient sequence assembly, de novo sequencing, and more. SBS chemistry offering uniform coverage ensures higher sequencing accuracy in difficult-to-sequence genome sections (GC-rich or repetitive spans).
1. Dr. Johar Ali, Ph.D. Molecular Nutrition
Head, Center for Genome Sciences
2. Mr. Syed Adnan Haider, M.Phil. Biotechnology and Genetic Engineering,
3. Ms. Bibi Sabiha, M.Phil. Virology and Immunology,
4. Mr. Hanifullah Jan, M.Phil. Biotechnology and Genetic Engineering,
1. Conducted NGS for Inherited diseases panel, Cytochrome and Breast cancer genes profiling, genetic-based HLA typing, Muscular Dystrophies, Thalassemia, Brugada syndrome, Type 2 diabetes, Bacterial & Yeast characterization, Gut microbiome studies.
2. Optimized DNA extraction protocols for challenging samples.
3. Established national and international collaborations with countries such as United Kingdom, South Korea, Turkey and Australia.
4. Developed custom NGS Data Analysis pipelines.
5. Published articles in peer-reviewed international journals.
6. Presented research work in international forums and conferences.
CENTER FOR GENOMIC SCIENCES
RMI has entered the modern world of high throughput human genetics by adding on the latest Next Generation Sequencing (NGS) facilities to the RMI Center for Genomic Sciences. This brings RMI up to date with international standards of human genetic diagnostics and research. It also provides patients of genetic diseases (including cancers) an advanced facility, which is currently not available in Pakistan. The NGS testing facility is the only recognized option for both diagnosis and prognosis of a wide variety of cancers that can be targeted by specific gene-based drug therapy.
Error detections in genes can be helpful in determining various diseases such as cancer and can lead to better and robust treatment. Next Generation (NextGen) sequencing technologies such as Miseq machine can be effectively deployed to counter genetic diseases. Detection of cancer and other genetic diseases and personalizing their treatment is now possible using NextGen sequencing technologies.
RMI Peshawar has recently acquired such a machine to effectively deal with many known and unknown genetic diseases and provide world class treatment to its patients.
RMI became the first institute in Pakistan to deploy Miseq, a cutting edge machine to train new scientists, provide diagnostic services to patients and further explore unknown genetic diseases.
NextGen sequencing is a paradigm shift in prevention, detection, and treatment of genetic conditions. In addition to diverse uses in Biological Sciences, it is being used successfully in the following medical fields:
- Cancer genetics, diagnosis, treatment & prognosis
- Reproductive Medicine & Infertility
- Paediatric congenital diseases & cancers
- Infectious diseases & Microbiology
- HLA typing and organ transplantation
- Forensic Sciences
- Genetic diseases e.g., thalassemia
- Targeted Disease Diagnosis
Having acquired such cutting edge technology, RMI will not only create jobs, train medical & biological scientists but also become the only facility in leading the way to making personalised medicine a reality in Pakistan. RMI has successfully acquired the services of Dr. Johar Ali, PhD., the only Pakistani origin scientist who has participated in the prestigious Human Genome Project in USA to make personalized medicine a reality.
Dr. Johar Ali
Head, Center for Genomic Sciences
Tel # +92-91-5838000 (Ext: 5227,5029,5027)