@LabWeihl

Conrad "Chris" Weihl lab | Washington University School of Medicine | Focusing on Protein Aggregation in Myopathies and Neurodegenerative diseases

 St. Louis, MO
sites.wustl.edu/weihlclab/
Joined January 2020
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  • Following397
  • Followers453
4Media
There has never been a more exciting time to pursue a career in Neuromuscular Medicine! Our Neuromuscle fellowship offers trainees comprehensive didactics, a broad patient mix and foundational training in electrodiagnostics and nerve/muscle pathology. youtube.com/watch?v=H1Uab-Xy…

WashU Neuromuscular Medicine Fellowship Video_720p

There has never been a more exciting time to pursue a career in Neu...

youtube.com
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An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP: The American Journal of Human Genetics cell.com/ajhg/fulltext/S0002…

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

Valosin-containing protein (VCP) is an ATPase that assists in cellular recycling pathways. Pathogenic variants in VCP are associated with adult-onset multisystem proteinopathy (MSP), affecting the...

cell.com
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Very nice excited this paper is out. It reveals the power of human genetics to understand molecular mechanism. Thanks to our collaborators. @WashUNeurology @TNRLab @CureVCPDisease
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Congratulations to our three #WashUMed faculty members elected to the National Academy of Medicine: Michael S. Avidan, MBBCh, Sarah K. England, PhD, and Timothy Miller, MD, PhD. Learn more about their groundbreaking work here: medicine.wustl.edu/news/avid…

Avidan, England, Miller elected to National Academy of Medicine | WashU Medicine

Membership is one of highest U.S. honors in health and medicine

medicine.washu.edu
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C3 awarded a Travel Grant to Dr. Stephanie Hunn, Washington University School of Medicine. Dr. Hunn, a member of @LabWeihl, presented early longitudinal data from the GRASP-LGMD natural history study at #WMS2023 in Charleston, SC. Read more here: curecalpain3.org/dr-stephani…
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Diagnosis of rare, genetic muscle disease improved by new approach #WashUMed researchers have developed an approach that could help doctors distinguish between the many subtypes of limb girdle muscular dystrophy, a rare, genetic muscle disease. @LabWeihl @WashUNeurosurg
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New pre-print from the lab! We performed quantitative proteomics in iPSC-derived motor neurons with p97 R155H mutation that causes ALS and MSP-1 and found lysophagy defects. biorxiv.org/content/10.1101/… Congrats to @jay_clicks Thanks @jmaglab @LabWeihl @GygiLab

ALS-related p97 R155H mutation disrupts lysophagy in iPSC-derived motor neurons

Mutations in the AAA+ ATPase p97 (also known as valosin containing protein, VCP) cause multisystem proteinopathy 1 (MSP-1) which includes amyotrophic-lateral sclerosis (ALS); however, the pathogenic...

biorxiv.org
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Morpholino antisense oligos show potential in selectively reducing DNAJB6b isoform levels, correcting disease-related protein abnormalities according to Findlay et al: Promising progress in treating Limb Girdle Muscular Dystrophy D1 (LGMD D1). cell.com/molecular-therapy-f…
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A patient from Charleston, SC gave me a list of his favorite restaurants when he learned that I will be attending the #WMS2023 in Charleston! I thought I should share this with @WorldMuscleSoc members.
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Weihl Lab retweeted
Bede Portz@YSPTSPS16 Nov 2022
Replying to @DavidWSanders2 @JasonSynaptic
pubmed.ncbi.nlm.nih.gov/2485… indeed a very great paper but also where are all your suggestions ?
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Timothy Miller, MD, PhD, discussed tofersen’s impact on SOD1 protein and neurofilament light, as well as the need to initiate treatment as early as possible after #ALS diagnosis. @AmylyxPharma @WashUNeurology @NEALSConsortium #NEALS2022 Watch here: ow.ly/7ZHw50Lze7G
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Unsolved cases of fetuses or newborns with bone, heart and muscle anomalies? Check Titin #titin #medicalgenetics #research #neonatology #pediatrics @UddLab medrxiv.org/content/10.1101/…

The crucial role of titin in fetal development: recurrent miscarriages and bone, heart, and muscle...

Background Titin truncating variants (TTNtv) have been associated with several forms of myopathies and/or cardiomyopathies. In homozygosity or in compound heterozygosity they cause a wide spectrum of...

medrxiv.org
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GRASP LGMD meeting underway!
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So proud of these amazing young physician scientists investigating how racism manifests in the clinic (Drs. Mysti Harrison and Jackie Bhattarai) and digging into more rare but significant neuroimmune disorder (@MariaIReyesMan1). #teamwork #ECTRIMS2022 @IntNatlWiMS
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I have a very important ceremony coming up. This will be my first time out since diagnosed with MS. Walking sticks are now part of my new normal. Thank you @neowalksticks for these beauties. Stay tuned to see which ones make the cut for a week of stuff.
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Weihl Lab retweeted
Solve-RD@Solve_RD27 Oct 2022
📢Conrad Weihl @LabWeihl @WUSTLmed, Ana Töpf & @VolkerWStraub @jwmdrc et al. just published their collaborative work in Acta Neuropathologica: Loss of function variants in DNAJB4 cause a #myopathy with early respiratory failure. 👉🏾 pubmed.ncbi.nlm.nih.gov/3626… @euro_nmd

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure - PubMed

DNAJ/HSP40 co-chaperones are integral to the chaperone network, bind client proteins and recruit them to HSP70 for folding. We performed exome sequencing on patients with a presumed hereditary muscle...

pubmed.ncbi.nlm.nih.gov
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Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure pubmed.ncbi.nlm.nih.gov/3626… Just out. great collaboration. @doctrue2 @BhadraAnkan @Gianina_Natoli @VolkerWStraub. Continually amazed how human genetics informs mechanism.

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure - PubMed

DNAJ/HSP40 co-chaperones are integral to the chaperone network, bind client proteins and recruit them to HSP70 for folding. We performed exome sequencing on patients with a presumed hereditary muscle...

pubmed.ncbi.nlm.nih.gov
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Young Myologist of the Year ⁦@WorldMuscleSoc⁩ #WMS2022 ⁦@SGorokhova⁩ ⁦@Myologie_MMG⁩ well deserved award congratulation !👍😄
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Stephanie Poelker from Washington University in St. Louis presents her poster showing baseline data from LGMD2A patients participating in the GRASP LGMD natural history study, a project partially funded by @CureCalpain3 #WMS2022 #LGMD2A #calpainopathy
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An important advance for LGMD diagnostics - Chris Weihl @LabWeihl (@WUSTLmed) used deep mutational scanning combined with high throughput functional analysis to test all possible missense variants in SGCB #WMS2022 @WorldMuscleSoc
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