Rare and Undiagnosed Diseases
Rare Disease
Diseases affecting fewer than 1 in 2,000 people in the population are defined as rare diseases.
Undiagnosed Disease
Conditions that mimic known diseases but have underlying causes that remain unidentified and undiagnosed.
Can Common Diseases Be Rare?
Some common diseases may have rare underlying causes; therefore, detailed evaluation is required.
Diagnosis and Differential Diagnosis in Rare and Undiagnosed Diseases
1
Evaluation of Commonly Seen Diseases
Investigations aimed at identifying rare causes underlying commonly observed diseases.
2
Evaluation of Alternative Diagnostic Causes
Assessment of different possible causes of diseases.
3
Evaluation of Treatment Resistance
Investigation of genetic and clinical reasons in cases where there is no response to applied treatments.
4
Investigation of Inconsistencies or Unexpected Findings
Analysis of the causes of unexpected findings or diagnostic inconsistencies.
5
Evaluation of Familial Genetics
Assessment of genetic distribution and risk factors of diseases within the family.
6
Comprehensive Gene Analysis
Comprehensive analysis of all genes for accurate disease diagnosis.
Treatment Approaches in Rare and Undiagnosed Diseases
1
Conventional Treatments
Standard treatment methods that have been used and validated over long periods of time.
2
Complementary and Alternative Treatments
Therapeutic approaches applied through complementary and alternative medicine.
3
Innovative Treatments
Treatment methods developed based on the latest scientific advances and medical technologies.