Advancing Healthcare Through Medical Genetics
Study of hereditary and multifactorial diseases
Genetic counseling for patients and families
Diagnose rare and undiagnosed diseases
Predict disease risk before symptoms appear
Guide targeted and personalized therapies
Improve reproductive decision-making
1. Clinical Genetics
Clinical genetics focuses on the diagnosis and management of patients with genetic conditions. It includes:
- Congenital anomalies
- Intellectual disabilities
- Inherited metabolic disorders
- Neurogenetic diseases
Clinical geneticists work closely with multidisciplinary healthcare teams to provide accurate diagnoses and long-term follow-up.
2.Molecular Genetics
Molecular genetics studies diseases at the DNA and RNA level. Techniques include:
- PCR and real-time PCR
- DNA sequencing (Sanger and NGS)
- Gene expression analysis
This area is essential for identifying disease-causing mutations and understanding molecular mechanisms.
3.Cytogenetics
Cytogenetics analyzes chromosomal abnormalities such as:
- Aneuploidies (trisomy 21)
- Structural rearrangements (deletions, duplications, translocations)
Techniques include karyotyping, FISH, and array-CGH.