2nd Madina Annual Rare Disease Day Meeting

Introduction

Take This Event

2nd Madina Annual Rare Disease Day Meeting taking place in Madina, KSA is an opportunity for all health care practitioners to become familiar with genetic and metabolic diseases which are relatively common in KSA but still misdiagnosed. The meeting will provide participants with comprehensive overview of most common genetic diseases, their characteristic features and the available therapeutic and preventive options. It is featuring interactive case studies, presentations and ample networking opportunities to discuss the main problems encountered during medical practice. The poster session will allow researchers to present their work and share new knowledge on genetic diseases with the participants. The key topics: Rare Diseases in Pediatrics, Laboratory Genetics, Genetic Counseling and Prenatal Diagnosis, Clinical Genetics and Metabolic Diseases ion adults, Cancer Genetics

Objectives

By the end of this activity the participants will be able to
1. Recognize treatable lysosomal storage diseases (eg.Fabry, Gaucher disease) at early stages
2. Identify the Inherited diseases presenting in adults
3. Recognize the role of genetic testing for Rare Diseases.
4. Distinguish treatable inherited diseases from other causes of epilepsy in childhood
5. Recognize hypophosphatasia and the principles of its management in children
6. Identify the genetic basis of auto-inflammatory diseases in children and its impact on treatment and prognosis.
7. Describe the importance of Prevention of Rare Diseases and the available options for the families
8. Recognize the genetic basis of hereditary cancers and its application for the screening and the treatment.
9. Use the knowledge about genetic diseases to conduct effective counseling of, the families
10. Distinguish genetic causes from other causes of heart diseases.
11. Recognize ophthalmological manifestations associated with genetic diseases
12. Differentiate between typical and atypical hemolytic Uremic syndrome
13. Determine inborn errors of metabolism for which liver transplantation is an alternative
14. Suspect Congenital Disorders of glycosylation based on clinical evaluation and basic investigations