Medical & Biochemical Geneticist. Invested in delivering high-value care to patients and families with rare disease. Momma bear and lover of 🍦🍷🧀
Grand Rapids, MI
Joined July 2020
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Today, we paid for a perfectly fine haircut in the morning and hacked the 💩 out of our hair with a pair of kitchen scissors in the afternoon.
Tell me this is normal. Tell me it gets better. Pour me a drink.
Enjoying Michael Eckrich's talk on sickle cell disease/therapies at @devoschildrens. Through a geneticist lens, the disease is remarkable - one SNP to explain pathology (and now provide a therapeutic target). A beautiful example of the power of understanding molecular biology.
As #newbornscreening expands further, I envision a role for multidisciplinary teams to triage, evaluate, and manage positive screens. #InfantileKrabbe is an example - a family meets with a (biochemical) geneticist, neurologist, bone marrow transplant specialist at first visit.
But wouldn't it also be great if they also met with social work and a psychologist? And later, wouldn't it be cool if that team also included developmental pediatricians, phys/occupational therapists, nutritionists, etc?
Proud to have been a small part of this patient's story.
Under an emergency-use investigational new drug application, a critically ill patient w/ #Barthsyndrome improved after taking elamipretide & other treatments, allowing doctors to explant a left ventricular assist device & avoid orthotopic heart transplant bit.ly/4fxNEdt
![Screenshot of Figure 1. Left ventricular ejection fraction over time during elamipretide treatment
y-axis label: Left Ventricular Ejection Fraction (%) [range: 0-80]
x-axis label: Duration of Elamipretide Treatment (Days) [range: 5-429]](https://pbs.twimg.com/media/GUZ1hvMXQAAOFrV.jpg?name=orig)
ALT Screenshot of Figure 1. Left ventricular ejection fraction over time during elamipretide treatment y-axis label: Left Ventricular Ejection Fraction (%) [range: 0-80] x-axis label: Duration of Elamipretide Treatment (Days) [range: 5-429]
Also, a good opportunity to reiterate - kids in heart failure/with cardiomyopathy deserve broad genetic testing. See pubmed.ncbi.nlm.nih.gov/3792… and pubmed.ncbi.nlm.nih.gov/3152…
One of the things I miss most about Philadelphia is Parks on Tap - @GrandRapids_MI, no reason why craft beer in beautiful places wouldn't also be a hit here...
Letter of medical necessity/prescription coverage appeal faxed: 9:09 am
Reviewed: 10:06 am
"Final Adverse Coverage Determination" faxed: 11:36 am.
...took them longer to fax the decision than it did to review. 😡
Jessica Priestley, MD PhD retweeted
Dr Mariko Bennett and Dr Laura Adang discuss inborn errors in nucleotide metabolism, exemplified by Aicardi Goutières syndrome.
Soundcloud: soundcloud.com/user-10900612…
Apple: podcasts.apple.com/gb/podcas…
Spotify: open.spotify.com/episode/0aO…
#AGS #podcast
Therapeutic eat, sleep, snugs? Yes ma'am.
jamanetwork.com/journals/jam…
Jessica Priestley, MD PhD retweeted
The lack of diversity in the genomics workforce reflects the long-term effects of a larger set of societal barriers, and it directly affects the work that we are doing in genomics – including using genomics to improve the practice of medicine.
So true. Lucky to have had some great ones!
Our study on why residents and young faculty chose genetics as a career has been published. No surprise- mentorship!
onlinelibrary.wiley.com/doi/…
Always such a privilege to hear Dr. Berry @BerryS730 talk about newborn screening, even more so when introduced by her nepo baby 🙃 #SIMD2024
The irony of the health system making a vague contribution to physician wellness initiatives in my honor for Doctor's Day ...
Hey #GeneChat, @CorewellHealth is hiring section chiefs for both Medical Genetics and Biochemical Genetics. Come be my boss!