#RareDiseaseDay

 

RareDisease: Valuable human models of gene/protein function 

e.g. leptin (obesity) mouse model affects 2.1 billion people. 

 

How do we try to find out what a gene does? By knocking it out/down or upregulating it in animal models or other experimental systems. Rare diseases represent valuable human models for gene/protein function.

 

 

#RareDisease research helps understand medicine for all diseases: http://buff.ly/1ScHz7y  #RareDiseaseDay

 

Excerpts:

"a rare disease with an underlying monogenic pathology indicates that the genetic variant in question is important enough to cause sufficient physiological disruption to cause clinical disease, but that it is compatible with life"

 

"An example of an area in which rare genetic diseases have significantly contributed to our understanding of how the body works is energy balance. Congenital Leptin Deficiency is a very rare disorder in which individuals are unable to produce the adipokine leptin due to missense or frameshift mutations in the leptin encoding gene (the ob gene)."

 

"the study of leptin, and indeed many other Mendelian obesity disorders, have taught us much about the underlying processes of overweight and obesity, which affect an estimated 2.1 billion individuals worldwide.""

 

 

Today is #RareDiseasesDay. Learn what a rare disease is & what research is being done: genome.gov/27531963 pic.twitter.com/JRgEFJuZ4a

 

 

#RareDisease Day at NIH 2016 will be streaming live today via webcast! Tune in: http://1.usa.gov/1FG6veL  #RDDNIH

 

 

By the French National Center of Health and Medical Research:

What if certain forms of depression were linked to the inflammation induced by the cells of our immune system?

 

Mastocytosis: Mast cells release inflammatory mediators > INFLAMMATION > tryptophan is degraded not to serotonin but to neurotoxic mediators > low serotonin > DEPRESSION

 

 

Inserm ‏@Inserm 

Et si certaines #dépressions étaient liées à l'inflammation provoquée par des cellules de notre système immunitaire? http://bit.ly/20WB9tr

 

 

 

 

 

#RareDiseaseDay : retrouvez toutes les informations sur les #maladiesrares sur le portail Orphanet > http://bit.ly/1TK4UgM 

 

 

 

rarediseaseday2016 : «29 février 2016 : une journée rare pour des maladies rares». Savoir+ http://ow.ly/YNgL4 

 

#rarediseaseday2016 : Les 2 plans nationaux ont permis des avancées majeures dans la prise en charge des patients http://ow.ly/YNgh7 

 

La création des filières de santé #MaladiesRares fait de la France le pays européen le + en pointe sur le sujet http://ow.ly/YNipX