
Scientific Advisory Board
We are proud to bring together leading medical science experts from around the world to lead our efforts in developing a therapeutic cure for HMERF.
Meet the Team
Rodney A. Bowling Jr, Ph.D
Chief Science Officer
AlphaRose RareLabs & To Cure A Rose Foundation
TEXAS, USA
Rodney serves as the Chief Science Officer at AlphaRose RareLabs and the To Cure A Rose Foundation.
At AlphaRose RareLabs, he oversees a multidisciplinary team dedicated to accelerating the translation of academic research into clinical practice. We are currently serving more than 40 families affected by rare diseases through a multimodal therapeutic approach, specializing in Antisense Oligonucleotides (ASOs), small-molecule repurposing, and gene therapy.
Rodney also serves on the scientific advisory boards for Saving Sasha from SLC6A1 and the Alliance Against HMERF. He earned my Ph.D. in Medical Sciences from Texas A&M University Health Science Center, Institute of Biosciences and Technology in 2008.
Dr. James Novak, PHD
Children's National Research Institute
WASHINGTON D.C. USA
Dr Novak brings strong expertise in developing specific therapeutics for other types of muscular dystrophy and is providing invaluable advice as we move toward developing a therapeutic for Casey and other HMERF patients.
Dr. Marco Savarese, PHD
Folkhälsan Research Center
HELSINKI, FINLAND
Dr. Savarese is the top HMERF geneticist who works with the leading global HMERF researcher, Dr. Udd, overseeing three ongoing studies in Finland, France, and Israel.
Dr. Johan Lindqvist, PhD
The University of Arizona
ARIZONA, USA
Dr. Lindquist research focuses on congenital myopathies such as nemaline myopathies and titinopathies such as HMERF.
Dr. Gerald Pfeffer, PHD
Cumming School of Medicine at Calgary University
CALGARY, CANADA
Dr Pfeffer's research focuses on creating a methodology to repair the damaged gene.
Dr. Stefano Cagnin, PHD
University of Padova, Italy
PADOVA, ITALY
Dr Cagnin is an experienced PHD skilled in Sequence Analysis, DNA Sequencing, Bioinformatics, Real-Time Polymerase Chain Reaction (qPCR), and Systems Biology.
Dr. Gabrielle Sales, PHD
University of Padova, Italy
PADOVA, ITALY
Dr Sales is a computational biologist interested in developing highly efficient methods for analyzing large datasets generated by high-throughput experimental techniques.
Our roadmap to life-saving treatments
A life-saving answer to HMERF is within our reach, and we are making great strides. Because of you, we can make a difference and continue our relentless pursuit of developing a therapeutic for HMERF.
STAGE 1
Target Identification
For HMERF the genetic defect is located on titin protein chain at exon 344. These mutations can disrupt the normal folding and function of the titin protein , leading to muscle damage and respiratory issues.
COMPLETE
STAGE 2
Develop Model
Researchers study the target protein to understand its functionality and then synthesize potential drug molecules that might interact with the target protein. Thousands of compounds are analyzed, seeking ones with therapeutic value..
COMPLETE
STAGE 3
Preclinical Testing
This stage can take up to 6–7 years as researchers synthesize and purify the drug, conduct limited animal testing, and evaluate the therapy in lab (in vitro) and animal (in vivo) models for safety, efficacy, and how it’s processed in the body.
In Progress
STAGE 4
Clinical Trials
This phase tests drugs in humans across three stages: Phase 1 evaluates safety and metabolism in healthy volunteers; Phase 2 assesses safety, effectiveness, and dosage in target patients; Phase 3 confirms results in a larger group. Researchers then file a New Drug Application (NDA) with the FDA for approval review.
NEXT STEP
STAGE 5
Take drug to market
Using the groundwork of the previous phases, the researchers work toward approval and commercial production of the target treatment that paves the way to changing the lives of these rare disease patients.


