UHS-Dept

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 offers MPhil and PhD degree programs.

Objectives

  1. Establishment of a centre that will provide the detailed information about the field of study both at basic and clinical level with continuous curriculum update.
  2. To provide facilities for advanced studies and research leading to M.Phil/Ph.D. in the areas of human genetics that includes molecular biology, cytogenetic, population medical and clinical genetics.
  3. To study the genetic diversity and ecology of human population, particularly of common and rare genetic diseases in Pakistan.
  4. To develop trained manpower able to make diagnosis based upon the basic knowledge of disease genetics.
  5. To develop skilled human resources for genetic counseling regarding genetic disorders caused due to consanguinity in our population.

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.

Sample collection (Human & Animal), Karyotyping, DNA/RNA extraction, Electrophoresis (agarose and PGAE), Cloning, hybridization, 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

  1. “Genetics of rare/common single gene disorders?
  2. “Genetic association studies of multifactorial diseases?
  3. “Genetic basis of resistance/susceptibility to diseases?
  4. “Pathways involved in iron induced oxidative stress in different metabolic diseases?

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 including cancer.
  • To establish a laboratory to provide rapid genetic testing in different hereditary diseases.