The Sequence for the week of 4/29-5/5 talks about a previously unreported repeat expansion founder mutation causing Spinocerebellar ataxia type 4 (SCA4). SCA4 is a rare subtype of SCA characterized by ataxia and nerve pain and numbness that has never before been associated with repeat expansions. This could mean an entirely new way to utilize testing and treatments for SCA4! #genetics, #publicpolicy, #geneticcounseling, #precisionmedicine, #translationalmedicine, #genetictesting, #geneticresearch, #genomesequencing, #spinocerebellarataxia, #SCA, #SCA4
Halie May’s Post
More Relevant Posts
-
The Sequence for the week of 6/24-6/30 discusses a potential workflow for PGx testing in the context of testing for patients who take antipsychotic drugs. I discuss why the widespread implementation of pharmacogenetics has yet to occur and one of the barriers to adopting PGx testing. #genetics, #publicpolicy, #geneticcounseling, #precisionmedicine, #translationalmedicine, #genetictesting, #pharmacogenetics, #pharmacogenetictesting, #testinglimitations, #CYP2D6
The Sequence 6/24-6/30
theweeklysequence.substack.com
To view or add a comment, sign in
-
The Sequence for the week of 6/3-6/9 discusses a new reason for a potential false-positive on newborn screening. As with screening of all kind, newborn screening has its limitations. In this case, we have an opportunity to learn from false-positive tests for X-linked ALD. #genetics, #publicpolicy, #geneticcounseling, #precisionmedicine, #translationalmedicine, #genetictesting, #newbornscreening, #ALD, #testinglimitations, #autoimmunedisease
The Sequence 6/3-6/9
theweeklysequence.substack.com
To view or add a comment, sign in
-
The Sequence for the week of 5/27-6/2 discusses the motivators and barriers around hereditary genetic testing, and the variety of reasons so many patients who could benefit from genetic testing don't opt for it. Read on for more! #genetics, #publicpolicy, #geneticcounseling, #precisionmedicine, #translationalmedicine, #genetictesting, #inheritedcancergenetictesting, #inheritedcancer, #barriers, #motivators
The Sequence 5/27-6/2
theweeklysequence.substack.com
To view or add a comment, sign in
-
The Sequence for the week of 5/13-5/19 takes a look at a new tool that can predict the shapes and interactions of biomolecules to understand the way they bind with one another. This innovation could mean predicting how those molecules interact together in drug development. #genetics, #publicpolicy, #geneticcounseling, #precisionmedicine, #translationalmedicine, #genetictesting, #geneticresearch, #proteinfolding, #ai, #deeplearning, #modeling, #drugdevelopment
The Sequence 5/13-5/19
theweeklysequence.substack.com
To view or add a comment, sign in
-
I've already learned so much from spending just a few days on this incredibly talented and empathetic team of clinical oncology specialists! I can't wait to continue growing alongside them and continue to learn. #natera #empower
Spring 2024 POA with an incredible group of people❤️ #natera #fightingcancer #mrd
To view or add a comment, sign in
-