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Related Experiment Video

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A Patient-Derived Xenograft Model for Venous Malformation

A Patient-Derived Xenograft Model for Venous Malformation

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Unsolved recognizable patterns of human malformation: Challenges and opportunities.

Kym M Boycott¹, David A Dyment¹, A Micheil Innes²

¹CHEO Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics

|December 24, 2018

Summary

Many human malformation syndromes are now genetically understood, but some remain unsolved. This review highlights these rare genetic diseases and proposes new strategies for diagnosis.

Keywords:

IRDiRC associations malformations molecular mechanisms syndromes unsolved rare diseases

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Area of Science:

Medical Genetics
Rare Diseases
Human Malformation Syndromes

Background:

Advances in genetic technologies have elucidated most common human malformation syndromes.
However, several well-established syndromes lack molecular diagnoses despite extensive research.

Purpose of the Study:

To review unsolved human malformation syndromes and associations.
To explore reasons for diagnostic intractability.
To propose a path forward for rare disease diagnosis.

Main Methods:

Analysis of Online Mendelian Inheritance in Man (OMIM) database for unsolved entries.
Review of well-characterized, extensively investigated, yet unsolved syndromes.
Exploration of potential genetic and non-genetic factors contributing to diagnostic challenges.

Main Results:

Of 2,034 OMIM entries likely representing rare genetic diseases, only 160 are well-established and potentially investigable.
Key unsolved syndromes include Dubowitz, Hallermann-Streiff, PHACE, Oculocerebrocutaneous, Aicardi, Gomez-Lopez-Hernandez/Rhombencephalosynapsis, VACTERL, and Nablus syndromes.
Potential reasons for intractability include genetic/phenotypic heterogeneity, mosaicism, epigenetics, and gene-environment interactions.

Conclusions:

Solving remaining rare genetic diseases requires new technologies, global collaboration, and data sharing.
A renewed focus on amendable OMIM disorders is suggested.
Achieving the International Rare Diseases Research Consortium (IRDiRC) vision of timely diagnosis for all rare disease patients is paramount.