Helgenomanalys vid sällsynta diagnoser ger stor patientnytta
(2021) In Lakartidningen 118(19-20). p.1-6- Abstract
If a disease affects fewer than 1 in 2 000, the European Union defines it as a rare disease. Globally, about 300 million people live with a rare disease, and in Sweden about 400 000. There are approximately 7 000 different rare diseases. The clinical picture varies from a single symptom to complex patterns with multiple organs affected, often combined with cognitive and motor impairment. At least 72 % of all rare diseases are genetic and 70% have childhood onset. Many patients are undiagnosed and do not receive optimal treatment. Today, only 5% of rare diseases have an approved treatment option. With modern genetic high throughput techniques, many disease-causing mutations are identified, increasing the possibility of personalized... (More)
If a disease affects fewer than 1 in 2 000, the European Union defines it as a rare disease. Globally, about 300 million people live with a rare disease, and in Sweden about 400 000. There are approximately 7 000 different rare diseases. The clinical picture varies from a single symptom to complex patterns with multiple organs affected, often combined with cognitive and motor impairment. At least 72 % of all rare diseases are genetic and 70% have childhood onset. Many patients are undiagnosed and do not receive optimal treatment. Today, only 5% of rare diseases have an approved treatment option. With modern genetic high throughput techniques, many disease-causing mutations are identified, increasing the possibility of personalized treatment and prevention strategies, designed by the individual's genetic conditions, i.e. precision medicine.
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- author
- Johansson Soller, Maria ; Nordgren, Ann ; Ehrencrona, Hans LU ; Lovmar, Lovisa ; Wedell, Anna and Lindstrand, Anna
- alternative title
- The utility of whole genome sequencing in rare disease diagnostics
- publishing date
- 2021
- type
- Contribution to specialist publication or newspaper
- publication status
- published
- keywords
- Humans, Precision Medicine, Rare Diseases/diagnosis, Sweden, Whole Genome Sequencing
- categories
- Popular Science
- in
- Lakartidningen
- volume
- 118
- issue
- 19-20
- pages
- 1 - 6
- publisher
- Swedish Medical Association
- external identifiers
-
- pmid:33973225
- ISSN
- 0023-7205
- language
- Swedish
- LU publication?
- no
- id
- 14ac61b2-14db-44cd-9ed1-6135a9013334
- alternative location
- https://lakartidningen.se/wp-content/uploads/2021/04/21015.pdf
- date added to LUP
- 2023-09-01 17:11:02
- date last changed
- 2023-09-04 09:03:22
@misc{14ac61b2-14db-44cd-9ed1-6135a9013334, abstract = {{<p>If a disease affects fewer than 1 in 2 000, the European Union defines it as a rare disease. Globally, about 300 million people live with a rare disease, and in Sweden about 400 000. There are approximately 7 000 different rare diseases. The clinical picture varies from a single symptom to complex patterns with multiple organs affected, often combined with cognitive and motor impairment. At least 72 % of all rare diseases are genetic and 70% have childhood onset. Many patients are undiagnosed and do not receive optimal treatment. Today, only 5% of rare diseases have an approved treatment option. With modern genetic high throughput techniques, many disease-causing mutations are identified, increasing the possibility of personalized treatment and prevention strategies, designed by the individual's genetic conditions, i.e. precision medicine.</p>}}, author = {{Johansson Soller, Maria and Nordgren, Ann and Ehrencrona, Hans and Lovmar, Lovisa and Wedell, Anna and Lindstrand, Anna}}, issn = {{0023-7205}}, keywords = {{Humans; Precision Medicine; Rare Diseases/diagnosis; Sweden; Whole Genome Sequencing}}, language = {{swe}}, number = {{19-20}}, pages = {{1--6}}, publisher = {{Swedish Medical Association}}, series = {{Lakartidningen}}, title = {{Helgenomanalys vid sällsynta diagnoser ger stor patientnytta}}, url = {{https://lakartidningen.se/wp-content/uploads/2021/04/21015.pdf}}, volume = {{118}}, year = {{2021}}, }