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A brief history of human disease genetics | Nature
#RareDisease https://www.nature.com/articles/s41586-019-1879-7 … -
With hopes of creating a model to tackle
#RareDisease & elevate the#PatientVoice, the Chan-Zuckerberg Initiative announced they will grant $450,000 to 30#patient groups & provide training & resources https://bit.ly/37YwtOX@statnews -
Epidemiological reports on centronuclear
#myopathies provide limited incidence and prevalence data. A landmark article now proposes a model to obtain estimated patient numbers by age, causative gene, severity and geographic region. Learn More: https://bit.ly/2RLLX26#raredisease pic.twitter.com/4hyipZJ5Sl
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While I applaud the Chan Zuckerberg Initiative (
@czi) in funding 30 patient groups, aiming to build a model for tackling#raredisease, why was#SickleCell Disease not included? It’s one of the most prevalent but also least funded rare? Help us#ConquerSCDhttp://bit.ly/31r5Uzm -
#tfp#mito#lchadd#mtfp#genetics#genetics#RareDisease#RareDiseaseDay#rarediseases To learn more about Noas rare conditionhttps://ghr.nlm.nih.gov/condition/mitochondrial-trifunctional-protein-deficiency …Prikaži ovu nit -
"The idea is to rethink the traditional process by which patient groups fund research..." - Great initiative from
@czi to fund and help empower patient groups to be involved in driving research and therapy development for#RareDisease https://www.statnews.com/2020/02/03/chan-zuckerberg-initiative-to-fund-30-patient-groups-aiming-to-build-a-model-for-tackling-rare-diseases/ … -
“If we can work with these groups to figure out the model — then anyone can do this.” -
@TaniaSimoncelli on@ChanZuckerberg’s efforts to build a model for patient-led groups to make progress on#RareDisease. Read more in@statnewshttp://bit.ly/CZIrare -
The
@ChanZuckerberg Initiative aims to build a model for tackling rare diseases, funding 30#raredisease patient groups. By @RebeccaDRobbins in @STATNewshttps://www.statnews.com/2020/02/03/chan-zuckerberg-initiative-to-fund-30-patient-groups-aiming-to-build-a-model-for-tackling-rare-diseases/ … -
Chan Zuckerberg Initiative to fund 30 patient groups, aiming to build a model for tackling
#raredisease https://www.statnews.com/2020/02/03/chan-zuckerberg-initiative-to-fund-30-patient-groups-aiming-to-build-a-model-for-tackling-rare-diseases/ … via@statnews -
"rethink the traditional process by which patient groups fund research... these conferences will allow researchers & patients to more strategically identify the right
#research priorities at the right time" for#RareDisease#patientengagement#bioethicshttps://www.statnews.com/2020/02/03/chan-zuckerberg-initiative-to-fund-30-patient-groups-aiming-to-build-a-model-for-tackling-rare-diseases/?utm_source=STAT+Newsletters&utm_campaign=ad6ed0a2a4-MR_COPY_01&utm_medium=email&utm_term=0_8cab1d7961-ad6ed0a2a4-149508509 … -
We are keeping love and hope alive. For Madden and the other children and their families affected by this disease it is what keeps us going. https://www.cbc.ca/news/canada/edmonton/fort-mcmurray-maddens-fight-1.5434901 …
#BattensDiseaseAwareness#RareDisease#hope#CLN2 -
ONE OF A KIND What do you do if your child has a condition that is new to science?
#genetics#raredisease https://www.newyorker.com/magazine/2014/07/21/one-of-a-kind-2 … -
&
#raredisease patients avoid it for fear of saddling their partner w/ debt if they pass away. In sickness and in health, but not in debt: Young Americans avoid 'I do' until student loans are paid off https://www.usatoday.com/story/money/2020/01/31/student-loans-more-millenials-gen-zers-delay-marriage-reduce-debt/4612295002/ … -
Huntington’s disease: I’m taking a test that will reveal my future.
#raredisease http://ow.ly/1SyH30qe7eD -
Phenotype of Saul-Wilson syndrome
#raredisease is remarkably uniform https://go.nature.com/2UfRctQ pic.twitter.com/p1r41uBN7n
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David is the only person in the UK with the
#raredisease, occipital horn syndrome. He discusses his experience of having an invisible illness and his hopes for the future in@MetroUK https://metro.co.uk/2020/01/30/can-isolating-person-uk-rare-disease-12155033/ …#IAmNumber17 -
Alberta family raising $2.8 million for baby to receive cure for spinal muscular atrophy in U.S. https://globalnews.ca/news/6481886/alberta-family-2-million-treatment-baby-reign/?utm_source=twitter&utm_medium=social&utm_campaign=tweepsmap-Test_Pipe …
#raredisease pic.twitter.com/kAGoBOiklD
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Development in the treatment of neurological disorders advances in the form of antisense drugs, a genetic therapy that is able to raise or lower protein levels.
#vcpdisease#ibmpfd#raredisease#rarediseases https://www.scientificamerican.com/article/antisense-drugs-for-huntingtons-als-and-prion-diseases-could-meet-the-dire-need-for-brain-treatments/ …pic.twitter.com/V2AVrpRCuL
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Alberta's Mighty Hudson doing well after gene therapy
#primaryimmunodeficeincy#raredisease#piawareness#pidcare#genetherapy#SCID https://globalnews.ca/news/6438331/alberta-baby-mighty-hudson-gene-therapy-cured/?utm_source=GlobalEdmonton&utm_medium=Facebook&fbclid=IwAR0TPNoVJCnfPAPvqpuyo3S0jm46RMX1Hre5XQ2RtP2wd8kPPzyb40WQNds …pic.twitter.com/F373SFc4eJ
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Pharmaceutical companies have to charge enough to earn back their development costs. Because rare diseases affect less than 200,000 people, that price could be incredibly high.
#raredisease https://triblive.com/opinion/randall-rutta-discrimination-against-people-with-rare-diseases/ …
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