A rare disease is a condition affecting less than 1 in 2,000 people. There are approximately 7,000 rare diseases and 80% are genetic in origin. Although each disease is individually rare, they cumulatively affect greater than 350 million people worldwide. Rare disease encompasses a large heterogeneous group of disorders with diverse clinical presentations and age of onset. Given their rarity, patients often remain undiagnosed or misdiagnosed for years. In the last decade, next-generation sequencing (NGS) (whole-exome sequencing and whole-genome sequencing) has enabled the identification of disease-causing variants in rare diseases. The identification of a genetic diagnosis has enormous implications for the patient and their family. The correct genetic diagnosis offers insight into the cause, natural history and prognosis. It can facilitate contact with support groups and provides families with informed genetic counselling. Moreover, it can increase the understanding of the disease pathogenesis and thus improve therapeutic strategies.
The yields of NGS in rare disease varies (20-100%), depending on the technology employed and the group being studied. Even though NGS affords us a better opportunity to elucidate the genetic cause, a proportion of individuals remain undiagnosed. Therefore, within this Research Topic, we hope to create a collection of articles addressing approaches to facilitate genetic diagnosis in rare diseases, the yield in different groups and methods employed to increase the yield.
We want to demonstrate the impact of identifying a genetic cause in rare disease. The following article types will be considered: Original Research, Reviews, Perspective, Brief Research Reports and Opinions.
Potential topics would include but are not limited to the following:
1. Studies showing application of NGS as a frontline test in healthcare setting to accelerate rare disease diagnosis.
2. Exploratory studies examining the cost-effectiveness of front line NGS services.
3. Bioinformatic analysis approaches and results from genomics centers or diagnosis laboratories.
4. Reviews on current best practices for variant classification: their strengths and weaknesses.
5. Studies examining transcriptome profiles in rare disorder patients with an uninformative WES/ WGS analysis.
6. Studies exploring variable penetrance and variable expressivity in rare disorders.
7. Applications of bioinformatic methodologies to increase medical diagnosis considering the detection of alternative transcripts and tissue expression patterns, non-coding variants, repeat expansions, structural variants, mosaic variants and uniparental disomy.
A rare disease is a condition affecting less than 1 in 2,000 people. There are approximately 7,000 rare diseases and 80% are genetic in origin. Although each disease is individually rare, they cumulatively affect greater than 350 million people worldwide. Rare disease encompasses a large heterogeneous group of disorders with diverse clinical presentations and age of onset. Given their rarity, patients often remain undiagnosed or misdiagnosed for years. In the last decade, next-generation sequencing (NGS) (whole-exome sequencing and whole-genome sequencing) has enabled the identification of disease-causing variants in rare diseases. The identification of a genetic diagnosis has enormous implications for the patient and their family. The correct genetic diagnosis offers insight into the cause, natural history and prognosis. It can facilitate contact with support groups and provides families with informed genetic counselling. Moreover, it can increase the understanding of the disease pathogenesis and thus improve therapeutic strategies.
The yields of NGS in rare disease varies (20-100%), depending on the technology employed and the group being studied. Even though NGS affords us a better opportunity to elucidate the genetic cause, a proportion of individuals remain undiagnosed. Therefore, within this Research Topic, we hope to create a collection of articles addressing approaches to facilitate genetic diagnosis in rare diseases, the yield in different groups and methods employed to increase the yield.
We want to demonstrate the impact of identifying a genetic cause in rare disease. The following article types will be considered: Original Research, Reviews, Perspective, Brief Research Reports and Opinions.
Potential topics would include but are not limited to the following:
1. Studies showing application of NGS as a frontline test in healthcare setting to accelerate rare disease diagnosis.
2. Exploratory studies examining the cost-effectiveness of front line NGS services.
3. Bioinformatic analysis approaches and results from genomics centers or diagnosis laboratories.
4. Reviews on current best practices for variant classification: their strengths and weaknesses.
5. Studies examining transcriptome profiles in rare disorder patients with an uninformative WES/ WGS analysis.
6. Studies exploring variable penetrance and variable expressivity in rare disorders.
7. Applications of bioinformatic methodologies to increase medical diagnosis considering the detection of alternative transcripts and tissue expression patterns, non-coding variants, repeat expansions, structural variants, mosaic variants and uniparental disomy.
