Consanguinity and Rare Genetic Disorders: Epidemiology, Case Studies, and Clinical Implications
Session
Pharmaceutical and Natural Sciences
Description
Consanguinity, defined as reproductive unions between closely related individuals, considerably increases the probability of offspring inheriting rare autosomal recessive (AR) disorders. This review explores the effects of consanguinity on the incidence, complexity, and spectrum of inherited diseases, emphasizing rare genetic syndromes within diverse populations. Consanguinity rates vary significantly by region, directly influencing the prevalence of founder mutations and specific AR diseases. In-depth literature review and case analyses—including Joubert syndrome, mucopolysaccharidoses (MPS), epidermolysis bullosa (EB), and systemic lupus erythematosus (SLE)—underscore the increased phenotypic and genotypic heterogeneity within affected groups, often resulting in blended or unusually severe disease manifestations. Recent molecular techniques, particularly next-generation sequencing, have advanced diagnosis, enabling precise management and carrier screening. The review discusses the multifaceted role of consanguinity, the need for culturally sensitive reproductive education, and novel diagnostic/therapeutic strategies. Ultimately, reducing the global burden of rare inherited disease requires coordinated public health action and deeper integration of genetic tools.
Keywords:
Consanguinity, Joubert Syndrome, Mucopolysaccharidoses, Epidermolysis Bullosa, SLE
Proceedings Editor
Edmond Hajrizi
ISBN
978-9951-982-41-2
Location
UBT Lipjan, Kosovo
Start Date
25-10-2025 9:00 AM
End Date
26-10-2025 6:00 PM
DOI
10.33107/ubt-ic.2025.355
Recommended Citation
Gashi, Yllka; Temaj, Anjeza; Aliu, Erda; Bilalli, Sefedin; Selmani, Driton; Temaj, Gazmend; and Nuhi, Nexhibe, "Consanguinity and Rare Genetic Disorders: Epidemiology, Case Studies, and Clinical Implications" (2025). UBT International Conference. 17.
https://knowledgecenter.ubt-uni.net/conference/2025UBTIC/PNS/17
Consanguinity and Rare Genetic Disorders: Epidemiology, Case Studies, and Clinical Implications
UBT Lipjan, Kosovo
Consanguinity, defined as reproductive unions between closely related individuals, considerably increases the probability of offspring inheriting rare autosomal recessive (AR) disorders. This review explores the effects of consanguinity on the incidence, complexity, and spectrum of inherited diseases, emphasizing rare genetic syndromes within diverse populations. Consanguinity rates vary significantly by region, directly influencing the prevalence of founder mutations and specific AR diseases. In-depth literature review and case analyses—including Joubert syndrome, mucopolysaccharidoses (MPS), epidermolysis bullosa (EB), and systemic lupus erythematosus (SLE)—underscore the increased phenotypic and genotypic heterogeneity within affected groups, often resulting in blended or unusually severe disease manifestations. Recent molecular techniques, particularly next-generation sequencing, have advanced diagnosis, enabling precise management and carrier screening. The review discusses the multifaceted role of consanguinity, the need for culturally sensitive reproductive education, and novel diagnostic/therapeutic strategies. Ultimately, reducing the global burden of rare inherited disease requires coordinated public health action and deeper integration of genetic tools.