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The Finnish Disease Heritage III: the individual diseases
1Department of Medical Genetics, The Family Federation of Finland, Helsinki, Finland. reijo.norio@kolumbus.fi
Insights
This review details 36 rare hereditary diseases within the Finnish Disease Heritage, summarizing clinical and molecular genetic findings. It also identifies five additional potential candidates for inclusion after further research.
Area of Science:
- Medical Genetics
- Human Genetics
- Rare Diseases
Background:
- The Finnish Disease Heritage comprises a unique set of rare hereditary diseases found in Finland.
- Decades of research have accumulated significant clinical and molecular data on these conditions.
- This article is the final part of a comprehensive series on the Finnish Disease Heritage.
Purpose of the Study:
- To provide a comprehensive overview of all 36 known Finnish rare hereditary diseases.
- To detail the clinical and molecular genetic characteristics of these diseases.
- To identify and discuss five additional diseases that may warrant inclusion in the Finnish Disease Heritage.
Main Methods:
- Systematic review of clinical and molecular genetic data accumulated over 50 years.
- Consolidation of information on 36 established Finnish rare hereditary diseases.
- Evaluation of five additional candidate diseases for potential inclusion.
Main Results:
- Detailed descriptions of 36 rare hereditary diseases are presented, covering clinical presentation and molecular genetics.
- Established Finnish diseases are characterized based on extensive national experience.
- Five other diseases are discussed as potential additions pending further investigation.
Conclusions:
- The Finnish Disease Heritage includes 36 well-characterized rare hereditary diseases.
- Ongoing research may expand the list of Finnish diseases.
- This work serves as a definitive resource on the Finnish Disease Heritage.
Abstract:
This article is the third and last in a series entitled The Finnish Disease Heritage I-III. All the 36 rare hereditary diseases belonging to this entity are described for clinical and molecular genetic purposes, based on the Finnish experience gathered over a period of half a century. In addition, five other diseases are mentioned. They may be included in the list of the "Finnish diseases" after adequate complementary studies.