Why rare diseases?

Giuseppe Remuzzi, Arrigo Schieppati

Research output: Contribution to journalArticle

Abstract

Patients with rare diseases are awaiting an answer to their needs. Traditionally, however, research on rare diseases has been limited by the idea that it was too difficult to do and too little rewarding in terms of return of profit. This attitude has actually changed during the last decade, because it was realized that research on rare diseases may help finding solutions valid also for common conditions. Indeed, while we all invoke translational research as the way to adapt results of laboratory studies into therapeutic interventions for patients, rare diseases often need the opposite path: we observe rare patients in the clinical practice, then we find out that they have a genetic defect, and finally we reproduce the defect in an animal model to extend the observation further beyond the clinic. In the process we also learn a lot about the physiology and the pathology and have insight into the mechanisms of common diseases. In other words, studying a rare condition may enlighten the path to other discoveries and to break the boundaries between disciplines and specialities to provide solutions for the sake of the patients.

Original languageEnglish
Pages (from-to)94-97
Number of pages4
JournalAnnali dell'Istituto Superiore di Sanita
Volume47
Issue number1
DOIs
Publication statusPublished - 2011

Fingerprint

Rare Diseases
Translational Medical Research
Research
Animal Models
Observation
Pathology
Therapeutics

Keywords

  • Clinical research
  • Rare diseases
  • Translational medicine

ASJC Scopus subject areas

  • Public Health, Environmental and Occupational Health

Cite this

Why rare diseases? / Remuzzi, Giuseppe; Schieppati, Arrigo.

In: Annali dell'Istituto Superiore di Sanita, Vol. 47, No. 1, 2011, p. 94-97.

Research output: Contribution to journalArticle

Remuzzi, Giuseppe ; Schieppati, Arrigo. / Why rare diseases?. In: Annali dell'Istituto Superiore di Sanita. 2011 ; Vol. 47, No. 1. pp. 94-97.
@article{59a462090dfd427698bdb181fd2f3db7,
title = "Why rare diseases?",
abstract = "Patients with rare diseases are awaiting an answer to their needs. Traditionally, however, research on rare diseases has been limited by the idea that it was too difficult to do and too little rewarding in terms of return of profit. This attitude has actually changed during the last decade, because it was realized that research on rare diseases may help finding solutions valid also for common conditions. Indeed, while we all invoke translational research as the way to adapt results of laboratory studies into therapeutic interventions for patients, rare diseases often need the opposite path: we observe rare patients in the clinical practice, then we find out that they have a genetic defect, and finally we reproduce the defect in an animal model to extend the observation further beyond the clinic. In the process we also learn a lot about the physiology and the pathology and have insight into the mechanisms of common diseases. In other words, studying a rare condition may enlighten the path to other discoveries and to break the boundaries between disciplines and specialities to provide solutions for the sake of the patients.",
keywords = "Clinical research, Rare diseases, Translational medicine",
author = "Giuseppe Remuzzi and Arrigo Schieppati",
year = "2011",
doi = "10.4415/ANN-11-01-18",
language = "English",
volume = "47",
pages = "94--97",
journal = "Annali dell'Istituto Superiore di Sanita",
issn = "0021-2571",
publisher = "Istituto Superiore di Sanita",
number = "1",

}

TY - JOUR

T1 - Why rare diseases?

AU - Remuzzi, Giuseppe

AU - Schieppati, Arrigo

PY - 2011

Y1 - 2011

N2 - Patients with rare diseases are awaiting an answer to their needs. Traditionally, however, research on rare diseases has been limited by the idea that it was too difficult to do and too little rewarding in terms of return of profit. This attitude has actually changed during the last decade, because it was realized that research on rare diseases may help finding solutions valid also for common conditions. Indeed, while we all invoke translational research as the way to adapt results of laboratory studies into therapeutic interventions for patients, rare diseases often need the opposite path: we observe rare patients in the clinical practice, then we find out that they have a genetic defect, and finally we reproduce the defect in an animal model to extend the observation further beyond the clinic. In the process we also learn a lot about the physiology and the pathology and have insight into the mechanisms of common diseases. In other words, studying a rare condition may enlighten the path to other discoveries and to break the boundaries between disciplines and specialities to provide solutions for the sake of the patients.

AB - Patients with rare diseases are awaiting an answer to their needs. Traditionally, however, research on rare diseases has been limited by the idea that it was too difficult to do and too little rewarding in terms of return of profit. This attitude has actually changed during the last decade, because it was realized that research on rare diseases may help finding solutions valid also for common conditions. Indeed, while we all invoke translational research as the way to adapt results of laboratory studies into therapeutic interventions for patients, rare diseases often need the opposite path: we observe rare patients in the clinical practice, then we find out that they have a genetic defect, and finally we reproduce the defect in an animal model to extend the observation further beyond the clinic. In the process we also learn a lot about the physiology and the pathology and have insight into the mechanisms of common diseases. In other words, studying a rare condition may enlighten the path to other discoveries and to break the boundaries between disciplines and specialities to provide solutions for the sake of the patients.

KW - Clinical research

KW - Rare diseases

KW - Translational medicine

UR - http://www.scopus.com/inward/record.url?scp=79953125056&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79953125056&partnerID=8YFLogxK

U2 - 10.4415/ANN-11-01-18

DO - 10.4415/ANN-11-01-18

M3 - Article

C2 - 21430346

AN - SCOPUS:79953125056

VL - 47

SP - 94

EP - 97

JO - Annali dell'Istituto Superiore di Sanita

JF - Annali dell'Istituto Superiore di Sanita

SN - 0021-2571

IS - 1

ER -