Discover and read the best of Twitter Threads about #genechat
Most recents (4)
Do you have an undiagnosed patient despite exome sequencing? 🤔
It could be a repeat expansion disorder.
Here are 5 scenarios that should make you think of a repeat expansion disorder in adults. 🧵
#GeneChat #MedTwitter
It could be a repeat expansion disorder.
Here are 5 scenarios that should make you think of a repeat expansion disorder in adults. 🧵
#GeneChat #MedTwitter
1/5
A 21 y man with slurred speech who is experiencing difficulty with coordination and balance over the last several years. He fatigues easily.
Diagnosis: Friedreich's ataxia
Genetics: GAA repeat expansion in the 1st intron of FXN
Inheritance: Autosomal recessive
#Neurology
A 21 y man with slurred speech who is experiencing difficulty with coordination and balance over the last several years. He fatigues easily.
Diagnosis: Friedreich's ataxia
Genetics: GAA repeat expansion in the 1st intron of FXN
Inheritance: Autosomal recessive
#Neurology
2/5
A 25 y woman with hot flashes and irregular menses over the last several months (early menopause).
Diagnosis: Fragile X-associated primary ovarian insufficiency (FXPOI)
Genetics: CGG repeat expansion in the 5' UTR of FMR1
Inheritance: X-linked
#OBGYN
A 25 y woman with hot flashes and irregular menses over the last several months (early menopause).
Diagnosis: Fragile X-associated primary ovarian insufficiency (FXPOI)
Genetics: CGG repeat expansion in the 5' UTR of FMR1
Inheritance: X-linked
#OBGYN
Did you know that #Thanksgiving is also National Family Health History Day?
Even if you don’t have a parent or sibling with a genetic diagnosis, you might be more likely to get a condition if other people in your family have or had the condition. 🧵 (1/7) #GeneChat
Even if you don’t have a parent or sibling with a genetic diagnosis, you might be more likely to get a condition if other people in your family have or had the condition. 🧵 (1/7) #GeneChat
These can include things like cancer, diabetes, or heart conditions. However, having a family health history of these things doesn’t mean that you will definitely get them. (2/7)
You can collect your family’s health history online using the My Family Health Portrait tool. Then, just as important, share this info with your healthcare provider so you can act on any findings! cdc.gov/genomics/famhi… (3/7)
I’ve reviewed a bunch of submissions for conferences and grant competitions this year and have some basic but important tips to share! 1/5 #AcademicTwitter #GeneChat
1) read the guidelines and make sure you include something on every section that is asked for. The guidelines usually correspond with sections on a rubric so missing a section will get you a 0 which could heavily impact your overall score. 2/5
2) write for your audience. This involves balancing how much info you choose to provide, especially in the background. Avoid jargon and limit acronyms- even with expert audiences, it makes it much easier to read 3/5
In a great journal club from @GenomeMed team, I learned about bibliotherapy- books to help kids process a diagnosis. I’d like to collect a list of these, so please add to this list with any you know about 👇🏼
#GeneChat #gcchat @GeneticCouns @TheACMG @GeneticsSociety
#GeneChat #gcchat @GeneticCouns @TheACMG @GeneticsSociety
Today I learned about Robot Music: A Story for Kids with Li-Fraumini Syndrome and Other Cancer Predispositions #lifrauminisyndrome
amzn.to/3KL1zN1
amzn.to/3KL1zN1
There is also FAP & Me fapgene.com/fapkidsbook.ht…
(Purchase link is broken @GeneticCouns)
#fap #familialadenomatouspolyposis
(Purchase link is broken @GeneticCouns)
#fap #familialadenomatouspolyposis
