Scott Harper Lab at Nationwide Children's Hospital

05/28/2020

Hello Facebook friends! It's been awhile since we've posted anything, so here are a couple of updates.

(1) Although our lab primarily works on FSHD, we also have been developing technologies that can be applied to other diseases. For one project in particular, we have been collaborating with Dr. Rob Burgess atJackson Labs in Maine, and Dr. Anthony Antonellis at the University of Michigan, to try to develop a treatment for a neuropathy called Charcot-Marie-Tooth Disease Type 2D (CMT2D). Here's a link to the story of how this project started and where we're headed:

https://www.tmc.edu/news/2020/05/one-bad-gene-harnessing-genomic-pioneering-to-save-caroline-fletcher/

Thanks to Alexandra Becker at the Texas Medical Center for the excellent summary and writeup of the project.

(2) Our lab, and virtually the entire Research Institute at Nationwide Children's Hospital, as well as most labs at The Ohio State University, were shut down for several weeks due to COVID-19. We are now up and running again, but are operating on a modified schedule to allow the minimal number of people in the lab at any given time.

Because research isn't typically a 9 to 5 job, and experiments often take days to complete, we developed a signup sheet to allow maximum flexibility while also maintaining social distancing. So we are operating almost on a 24/7 basis. Everyone in the lab areas are required to wear masks as well. Let's all hope an effective vaccine arrives soon, and that this novel coronavirus can't mutate to evade the immunity it will provide.

Stay safe!

A pediatric neurosurgeon unites researchers from across the country to help his granddaughter who was diagnosed with a rare genetic disorder.

10/08/2019

Last year, Bob Rosania (aka the FSHD Lab Rat) and his colleague Victoria Sheldon visited our lab to get a tour and talk a little about what we do.

We also were able to drop in on our awesome physical therapy team here at Nationwide Children's Hospital, who demonstrated their new video game that is being developed to test range of motion for clinical trials of FSHD and other muscular dystrophies.

Bob posted these videos to YouTube, and we unfortunately missed linking to them. We're rectifying that mistake now.

Thanks to Bob and Victoria for the visit and the footage.

p.s. For anyone out there in FB world, we in the Harper lab have an open door and are happy to host a visit to the lab for anyone who may be interested in nerdy science stuff.

Harper lab links are here:
https://youtu.be/CX1r6lDCK1g?list=UUC0dFpHG9SrrxumiD0ERFPA

https://youtu.be/DUU8LnT407M?list=UUC0dFpHG9SrrxumiD0ERFPA

The physical therapy video game link is here:
https://youtu.be/Ce23HwDe4xM?list=UUC0dFpHG9SrrxumiD0ERFPA

FSHD Lab Rat visits the Scott Harper Lab for gene therapy at Nationwide Children's Hospital in Columbus, Ohio. Dr. Harper and his team were very generous wit...

10/07/2019

We are very proud of Dr. Afrooz Rashnonejad, a post-doctoral fellow in the Harper lab, for winning the President's Award at the 24th Meeting of the World Muscle Society, held this year in Copenhagen, Denmark from Oct 1 - 5.

This was Afrooz's first WMS meeting, and she was selected to give a talk on her work to develop a CRISPR/CAS13-based gene therapy for FSHD.

Afrooz gave an outstanding talk - a clear and confident presentation with exciting data. We look forward to great things from her now and when she's running her own independent lab someday soon.

Congrats Afrooz! Great job!

10/02/2019

Our lab primarily works on FSHD. However, some of the gene therapy strategies we are developing can be adapted and applied to other diseases.

A few years ago, the Harper lab began a collaboration with the lab of Dr. Rob Burgess at Jackson Labs in Bar Harbor, Maine.

This project was focused on developing a new, personalized gene therapy for a disease called Charcot Marie Tooth type 2D (CMT2D).

In brief, a new mutation in a gene called GARS was identified in a little girl with an aggressive form of CMT2D. The Burgess lab created a new mouse model containing this mutation and then we developed a gene therapy approach to eliminate the mutant gene in those mice. It worked well.

The paper is now advance online here:
https://www.jci.org/articles/view/130600/pdf

And

A brief description of the project is located here:

https://www.cmtausa.org/news/a-cure-for-caroline-and-other-cmt-stories/

Gene therapy approaches are being deployed to treat recessive genetic disorders by restoring the expression of mutated genes. However, the feasibility of these approaches for dominantly-inherited diseases—where treatment may require reduction in the expression of a toxic mutant protein resulting f...

09/14/2019

Congrats and a huge thanks to Susan and Bob Aumiller, and Mark Stone and the FSHD Society, for their incredible efforts to organize another successful Walk and Roll event today in Columbus Ohio. You are all amazing!

06/30/2019

We are all very proud of Juwan Copeland, a post-baccalaureate student at The Ohio State University who has been working/studying in the Harper Lab for the past year.

Juwan is leaving us soon for bigger and better things. He'll be working on earning his PhD at one of the best institutions in the country - Baylor College of Medicine in Houston, Texas. In fact, Juwan was accepted into every PhD program he applied to this past year (9/9), so Baylor is lucky to have him.

Here, he's giving his final presentation to sum up his project, which we expect to publish soon.

Watch out for Juwan - we are expecting big things from this superstar in the making.

06/18/2019

Our new paper is now accepted at the journal "RNA" and available as an advanced online publication prior to final formatting. This paper describes a new method to detect the DUX4 gene in cells donated from FSHD patients. Our next step is to test if this method can be used to find DUX4 in FSHD muscles.

Facioscapulohumeral muscular dystrophy (FSHD) is among the most common forms of muscular dystrophy. FSHD is caused by aberrant expression of the toxic DUX4 gene in muscle. Detecting endogenous DUX4 in patient tissue using conventional methods can be challenging, due to the low level of DUX4 expressi...