Excited to share some new work from us today on ultra-rapid genome sequencing for the diagnosis of critically ill children and adults.

In critical care settings, genetic diagnosis can shorten stays, direct precision therapy, save money, and help with family planning. 1/ However, most commercially available genome-wide genetic tests are exome-based and turnaround is typically 6-8 weeks. Rapid turnaround tests including whole genomes are available commercially with validated results taking from one to four weeks. 2/

There has been so much written in the press about COVID and the heart. Many of the articles are balanced. Unfortunately, few of the headlines are and people are scared. Know that there is no evidence that COVID commonly "wrecks your heart" (@sciam should know better). 1/ Also there is no evidence of an emerging "wave of heart disease" (@nytimes). What we have is an unprecedented focus on this disease (@edyong209) and a lot of studies with no control groups. It is true that COVID "can" affect the heart (@EricTopol). This is not surprising. 2/

New work from our group on allele specific silencing for the treatment of cardiomyopathy 1/
journals.physiology.org/doi/full/10.11… 2/ This builds on our prior work showing efficacy in a humanized mouse model and extends it to a human setting (induced pluripotent stem cell cardiac myocytes)

https://twitter.com/euanashley/status/1166133681917808640?lang=en

Excited to be able to port MyHeart Counts to Android and work with Google Cloud and FDA on digital clinical trials Original paper here: jamanetwork.com/journals/jamac…

1/ Out today in @CircAHA, we are excited to share our work focused on allele silencing as a therapy for cardiomyopathy. ahajournals.org/doi/10.1161/CI… 2/ Thanks to amazing work from many groups, we now understand the genetic basis for many cardiomyopathies, yet our treatments are focused on late secondary effects, not the underlying cause.

1/n New paper from our group today nature.com/articles/s4146… 2/ Heart failure is a major and growing cause of death around the world. Current therapies are aimed at tempering the physiological response to disease, rather than the cardiac muscle itself cdc.gov/dhdsp/data_sta…

1/ Quick thread on our paper published yesterday from the Undiagnosed Diseases Network nejm.org/doi/full/10.10… 2/ We analyzed data from the first 1519 patients referred over 20 months. We report rates of diagnosis, how those diagnoses were made, and the medical impact of the diagnosis.