Inherited cardiomyopathies are entering a new era.
First-in-human gene therapy trials are now underway for MYBPC3, PKP2, BAG3, LAMP2B, and FXN and more.
My review on where the field stands, in Circ: Heart Failure ahajrnls.org/48RvWjy
Pediatric massive left ventricular hypertrophy (mLVH) is a risk factor for sudden cardiac death (SCD) and other adverse events in children with hypertrophic cardiomyopathy (HCM). ahajrnls.org/496Y6XA
Thrilled to share our research on a novel method to visualize and isolate border zone cardiomyocytes! Powerful new tool to study their contribution to heart repair and regeneration. @URMC_DeptMed #URochesterResearch
Sprr1a acts a novel marker for specific subpopulation of border zone cardiomyocytes in mice, that survive myocardial infarction, facilitating their direct visualization, isolation, and longitudinal tracking. ahajrnls.org/3OmYZUW
In this commentary we discuss WHO needs genetic testing, WHY we need it, and HOW we can test. Genetic testing provides valuable information for our patients with HF and their families. @fatkinlab#JACCHF#Genetics#HeartFailure
Genetic CMPs are an under-recognized cause of #HF.
Pathogenic variants: ~20% in #DCM, ~30% in HCM, & up to 45% in advanced HF, yet <2% of eligible patients undergo testing. A call to advance precision medicine in HF care? jacc.org/doi/10.1016/j.jchf.…#JACCHF#cvHCM#HeartFailure
Very excited to share our commentary where we discuss WHO needs genetic testing, WHY we need it, and HOW we can test (sciencedirect.com/science/ar…). Genetic testing provides valuable information for our patients with HF and their families. @fatkinlab@JACCJournals#JACCHF#Genetics
Titin, the largest known human protein, is vital for normal heart muscle contraction.
@yurikim_mdphd, @MerajNeyazi & team @harvardmed now discover an intron-mediated enhancer that regulates TTN gene expression and cardiomyocyte contractility: jci.org/articles/view/183353
Titin, the largest known human protein, is vital for normal heart muscle contraction.
@yurikim_mdphd, @MerajNeyazi & team @harvardmed now discover an intron-mediated enhancer that regulates TTN gene expression and cardiomyocyte contractility: jci.org/articles/view/183353
CVD is the leading cause of 🌏 morbidity & mortality.
Many are caused by damaging DNA 🧬 variants and require lifelong treatments that mitigate but do not cure disease.
This advisory looks at gene therapies to treat CVD.
✍🏼: @yurikim_mdphd @APLandstrom @SvatiShah@Joseph_C_Wu
Acto3D: an open-source user-friendly volume rendering software for high-resolution 3D fluorescence imaging in biology
Read this Techniques and Resources Article by Naoki Takeshita, Kenta Yashiro @drkyashiro_kpum and colleagues:
journals.biologists.com/dev/…
A major adverse effect of statins is myopathy (known since 1980). Now genetics have shed light on this association. Two independent teams have recently discovered that recessive mutations in HMGCR cause a severe form of muscular disease in humans.
A 🧵 for genetics lovers.
We at the CureHeart team are looking for an enthusiastic colleague to help us test and design genetic cures for inherited heart muscle diseases. We are working with human iPSCs and cutting edge CRISPR/Cas9 technologies to design these treatments. tinyurl.com/CureHeart1
In Opinion
“Today, I will explain to my healthy transplanted heart why, in what may be a matter of days or weeks at best, she — well, we — will die,” writes Amy Silverstein, an author, in a guest essay.
nyti.ms/3V0iodr
Cardiomyocyte infection by Trypanosoma cruzi promotes innate immune response and glycolysis activation.
Study by great friends @harvardmed Spearheaded by Gabriela Venturini!
frontiersin.org/articles/10.…