Center Units

Overview:
This unit focuses on studying genetic variations at the DNA and RNA levels to support the understanding of the causes and mechanisms of inherited diseases, and to contribute to the development of accurate molecular diagnostic assays.

 

Unit Activities:

• Identification of clinically significant genetic variants.
• Genetic variant analysis and interpretation, and correlation with the clinical phenotype.
• Design and development of molecular diagnostic assays.
• Functional validation of the impact of variants on gene expression and protein function.
• Genetic counseling for affected families to help reduce the likelihood of recurrence.

 

Supervisor:

Dr. Jamil Hashmi

Overview:
This unit focuses on structural and numerical analysis of chromosomes which help to identify and confirm genetic disorders and syndromes attributed to chromosomal abnormalities. Also, the unit investigates microdeletions of Y chromosome in male infertility cases.

 

Unit Activities:

• Cytogenetic testing to analyze chromosomes for abnormalities in chromosome structure and number.
• Y chromosome Microdeletion assay to investigate genetic cause of male infertility 

 

Supervisor:

Dr. Monis Bilal 

Overview:
This unit specializes in identifying biomarkers and provide biochemical tests related to metabolic disorders.

 

Unit Activities:

• Targeted biochemical testing for inherited and metabolic disorders (organic acid analysis and amino acid analysis).

• Interpretation of results and correlation with biochemical pathways and clinical manifestations.

• Support for research aimed at discovering and evaluating novel biomarkers (metabolites).

 

Supervisor:

Dr. Muhammad Latif 

Overview:
This unit is dedicated to building national capacity and developing the skills of students and researchers through structured, hands-on training programs in molecular biology, medical biochemistry, and data analysis.

 

Unit Activities:

• Practical workshops and short courses across all center units.

• Cooperative training programs for students and graduates through approved training tracks.

• Academic supervision of undergraduate graduation projects and support for related research projects.

 

Supervisor:

Mr. Essa Alharby