#Raredisease

#Momvocate tip: Ask questions until you understand your child's condition and care. This is especially hard to do during a time of #COVID19. But it is a Dr's professional ethical
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Bioethics Twitter! Join PGTME for a FREE lecture series addressing 5 different issues in the growing field of gene-based therapies for pediatric populations. Nov. 30 - Dec. 4 from 12-1pm
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Finding connections & advocating has been so helpful for me. Here’s a thread attempt, w/my limited/developing advocacy skills. Tips/pointers/thoughts from #RareDisease, #chronicillness, #disability, #NEISvoid, #hcldr, #patientchat com
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Diagnosis is a privilege. It also takes hard work to get a diagnosis, especially when you have a #RareDisease. It's very common for rare disease patients to wait 10+ years
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Tonight on the 100th episode of #MitoMonday we have, as promised, a brief #AMA session with our supreme leader Jared Rutter! #AskJared #TrailBlazer #LateNightWIthTheRutterLab Question 1: What is the hardest
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excited the @ChowLab's newest paper! Another installment in trying to understand NGLY1 deficiency #NGLY1 #RareDisease #openaccess Before I get into the paper, I'm really proud of the team effort to
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I didn't expect 253 votes when I launched the poll! While a majority of #disabled people have had 5 or fewer GPs/primary care doctors in their lives, almost a third
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1/X https://rdcu.be/b992F  We are very excited about our study appearing today in @NatureMedicine. It is a genotype-phenotype study in the largest sample of individuals with #22q11.2 deletion syndrome reported to
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My first 2 months at @EU_ScienceHub have been fascinating. I’ve begun to explore a rich tradition of scientific excellence spanning nearly 60 years.Here are some of the things I have
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