The importance of rare diseases: from the gene to society

@article{Dodge2010TheIO,
  title={The importance of rare diseases: from the gene to society},
  author={John A. Dodge and T T Chigladze and Jean Donadieu and Zachi Grossman and Feliciano J. Ramos and Angelo Serlicorni and Liesbeth Siderius and Constantinos J. Stefanidis and Velibor Tasic and Arunas Valiulis and Jolanta Wierzba},
  journal={Archives of Disease in Childhood},
  year={2010},
  volume={96},
  pages={791 - 792}
}
What exactly do we mean by a rare disease (RD), and why are they important for paediatricians? The definition used for public health purposes in Europe is that an RD is one which affects fewer than one citizen in 2000; in the USA it is fewer than one in 1250.1 There are estimated to be between 6000 and 8000 known RDs in the world, many of which are predominantly paediatric disorders. About 75% of the diseases meeting the criteria for RD affect children, and about 30% of all patients with RDs… 
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51 Citations

Rare diseases with renal involvement in the Republic of Macedonia.
TLDR
It is felt that RDAKUT are underdiagnosed, and that many patients with RDs have a long way to go before an accurate diagnosis, while health insurance must include RDAkUT covering their diagnosis and treatment costs.
Next-generation whole-exome sequencing contribution to identification of rare autosomal recessive diseases
TLDR
Next generation whole-exome sequencing (WES) opened a new page in Mendelian disease gene discovery – enabling to study autosomal recessive diseases in a new way, and during 3 years of WES usage many novel mutations of autosome recessive disease genes were discovered.
Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit
TLDR
The findings expanded the genotypes and phenotypes of 19 rare diseases from PICU with complex characteristics to include patients with respiratory, multiple congenital anomalies, neuromuscular, or metabolic disorders.
Challenges of caring for a patient with a rare disease--as demonstrated by Cornelia de Lange Syndrome.
TLDR
The model suggested here demonstrates a shorter diagnostic process, continuous contact with the patient, his/her family and pediatrician, and the only means of improving the quality and duration of the patient's life.
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.
On rare and "super-rare" diseases: an insight from the Republic of Macedonia.
Rare diseases (RD) are becoming increasingly important as possible targets of new forms of treatment, as a valuable source of a novel insight in fundamental lows of biology, and in the specific…
Paediatric genomics: diagnosing rare disease in children
TLDR
For affected families, a better understanding of the genetic basis of rare disease translates to more accurate prognosis, management, surveillance and genetic advice; stimulates research into new therapies; and enables provision of better support.
Development and progress of the National Congenital Anomaly and Rare Disease Registration Service
TLDR
Public Health England (PHE) was formed in April 2013; at that time, regional congenital anomaly registers covered just 49% of births in England, and data collection was largely a paper-based manual system that was administratively dense.
Heritable Genome Editing: Who Speaks for "Future" Children?
TLDR
The latest calls for global moratoria on clinical applications of heritable genome editing are troubling in that they may create an illusion of control over rogue science and stifle the necessary international debate surrounding an ethically responsible translational path forward.
Quality of life and mental health of children with rare congenital surgical diseases and their parents during the COVID-19 pandemic
TLDR
Evaluated families of children with rare diseases and their parents report severe psychosocial impairment regarding themselves and their children during the COVID-19 pandemic, and affected families should receive attention and supportive care in the form of a family-center approach to alleviate the additional burden of the COIDs.
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