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Helgenomanalys vid sällsynta diagnoser ger stor patientnytta

Johansson Soller, Maria ; Nordgren, Ann ; Ehrencrona, Hans LU orcid ; Lovmar, Lovisa ; Wedell, Anna and Lindstrand, Anna (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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Please use this url to cite or link to this publication:
author
; ; ; ; and
alternative title
The utility of whole genome sequencing in rare disease diagnostics
publishing date
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}},
}