Introduction
Department
of human Genetics was established on June 12, 2007, to study the
genetic diversity and ecology of human population and rare genetic
diseases in various ethnic and isonym groups. The programme was started
to produce competent manpower in the subject of Medical Genetics as
medical teachers, researchers and genetic counselors.
The training in
the Human Disease Genetics aims to provide candidates with the
requisite expertise in the concepts, approaches, and molecular biology
techniques of basic and clinical genetic research. The programme
provides students with a solid foundation through coursework, rigorous
training in research and opportunities to develop communication and
presentation skills. Basic understanding of the subject facilitates the
development of independent investigators and teachers in the subject.
The Department is offering BS, MPhil and PhD degree programs.
Objectives
- To provide facilities for advanced studies and research leading to BS/M.Phil/Ph.D. in the areas of human genetics that includes molecular biology, cytogenetic, population, medical and clinical genetics.
- To study the genetic diversity of our own Population, particularly effected families of common and rare genetic diseases.
- To develop trained manpower for genetic counselling and Molecular disgnosis of genetic disoreders caused due to consanguinity in Pakistani population.
- To develop skilled human resource as teachers and researchers for Higher Education and Research institutes.
Working Facilities
Books and computing facilities
The department has a pretty good collection of books and user manuals in the field of human genetics and molecular biology. To upgrade their knowledge the students are encouraged to consult latest research papers. Facility of online journals is accessible to them not only in the main library but in the department as well. To increase the understanding of biological processes the biological data must be combined to form a comprehensive picture of these activities. For this purpose online freely available bioinformatics sites for databases and data analysis soft wares need to be used. Computers having full access to these sites are available in the department to facilitate the students.
Laboratory facilities and techniques
Following
Laboratory facilities and techniques are available to identify the
genetic determinants of complex disease traits by carrying out
well-powered linkage and association studies in Pakistani population to
detect novel disease loci. Further to Identify genes and variants
contributing to various genetic disorders common in our population and
to detect rare structural changes in chromosomes to identify the causes
of certain inherited disorders in the pediatric population.
Folowing Techniques are being used for reasearch in the departmental lab.
DNA/RNA extraction,
Electrophoresis (agarose and PGAE), Cloning, hybridization, Karyotyping, Southern/
Northern/Western blotting, Polymerase Chain Reaction (PCR) of all types
i.e. Conventional, RT PCR & ARMS PCR, Restriction digestion &
RFLP, cDNA synthesis, SSCP analysis, DNA mobility shift assay,
Expression analysis, DNA sequencing, Primer designing, Pedigree
construction and trait analysis, homozygosity mapping, haplotype
analysis.
Employing these techniques all research projects are designed under following four main domains
- Genetics of rare/common single gene disorders.
- Genetic association studies of multifactorial diseases.
- Genetic basis of resistance/susceptibility to diseases.
- Application of Stem Cells and Tissue Culture in Research on Genetic Disorders.
Future Plans
- To improve the number of M. Phil. And PhD scholars in the department.
- To upgrade the department by providing state of the art lab facilities for advance research and practical training in Molecular Genetics, Stem Cells and Tissue Culture.
- To establish a laboratory to provide rapid genetic testing and Genetic Counselling Facility in different hereditary diseases.
