Who are we?
We are a patient driven charitable project, united by a common cause: to address the challenges of HSPB8 myopathy.
Our team comprises patients, family members, healthcare professionals, and researchers, all driven by a shared commitment to making a meaningful difference in the lives of those affected by this rare genetic condition.
Our vision is a future where:
HSPB8 Myopathy is conquered
treatments are accessible
the community stands united
Cure HSPB8 Strategic Plan
Our mission is to improve the lives of all people affected by HSPB8 Myopathy and their families. We do this by accelerating the drug development process, building a strong and empowered community and advocating for the community.
Our vision is life free of HSPB8 Myopathy and all its burden.
Our purpose is to alleviate suffering and empower the patients
Our strategy is to invest in R&D, support HSPB8 Myopathy families, advocate for the community and grow as an organization
Our values are urgency, transparency, evidence-based
What differs us: we are the only charitable project dedicated to addressing challenges of HSPB8 Myopathy.
In contrast to some more mature rare disease patient groups, HSPB8 Myopathy is not tested for in neuromuscular centres and therefore one of our first main challenges it is reaching the correct diagnosis.
Our goal is to find a treatment and a cure using state-of-the-art technologies and advances in science.
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Find a treatment and eventually a cure for HSPB8 Myopathy
We will make smart investments in research that can identify possible treatments, develop a cure and improve our understanding of HSPB8 Myopathy
Objective 1: identify a currently approved therapy that can alleviate symptoms of HSPB8 Myopathy for example via a drug repurposing screen
Objective 2: develop a disease modifying treatment
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Expand knowledge of HSPB8 Myopathy
Objective 1: gather information via the patient registry
Objective 2: define suitable outcome measures and clinical endpoints
Objective 3: answer basic biological questions about the disease mechanisms
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Build HSPB8 Myopathy community, and provide information and support
We are here to support our families and offer the resources and help they need to navigate life with HSPB8 Myopathy
Objective 1: find all the patients
Objective 2: build a community of experts: researchers and clinicians and connect them with the patients
Objective 3: provide support for families and connect them globally
Objective 4: provide all the information for the patients regarding HSPB8 Myopathy promptly
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Advocate for the Community
HSPB8 Myopathy is ultrarare, so we work to raise awareness, gain recognition, and increase exposure for HSPB8 Myopathy, ensuring our voice is heard.
Objective 1: achieve recognition as a subtype of MFM or LGMD
Objective 2: ensure HSPB8 Myopathy and Cure HSPB8 is included in all rare disease databases, and human disease databases, and umbrella organizations.
Objective 3: increase awareness within the wider rare disease community
Our Efforts
Driving Research Towards Cure
Patient registry - a first step to understand the natural history of the disease. In collaboration with NORD.
Raising awareness
Increasing public and professional awareness of HSPB8 myopathy is crucial for early diagnosis and better care.
Gathering Data on Disease Progression
We provide funding to academic groups and industrial partners focused on developing a treatment for HSPB8 myopathy and understanding the mechanisms of the disease.
Working Towards Screening Inclusion
Our goal is to include HSPB8 myopathy in screening panels for undiagnosed muscle wasting conditions to facilitate early detection and intervention.
Building a Strong Patient Community
We're creating a supportive network where patients and families can share experiences, find support, and stay connected.
Engaging with Regulatory Bodies
We actively communicate with organizations like the FDA to advocate for the needs of those with HSPB8 myopathy.
Our Team
Todd King
Founder
Todd King is a rare disease patient with HSPB8 Myopathy. Like many rare disease patients, he was "diagnosed" with an unknown myopathy after having some unusual symptoms. Unfortunately, also like many rare disease patients, he was not given a firm diagnosis, let alone a treatment plan – Or even a meaningful suggestion about steps to take.
After searching many years for a researcher to work with him, in 2015 he connected with Dr. Virginia Kimonis from the University of California, Irvine. Through the efforts of the Kimonis Lab and Ambry Genetics, the gene mutation causing the myopathy was identified as HSPB8 in 2016.
Since then, Todd, the Kimonis Lab, and others have been working to understand and ultimately treat / cure the condition. In 2023, he started CureHSPB8, a patient advocacy organization focused on finding that elusive treatment / cure.
Todd lives in Florida with his wife, and is a proud father to his daughter, who attends the University of Wisconsin, Madison. Todd holds degrees from MIT and the University of Chicago.
Dr. Ania Kordala
Program Director
Dr. Ania Kordala, who holds a PhD in Physiology, Anatomy and Genetics from Oxford University, has a strong background in rare diseases research, in particular spinal muscular atrophy (SMA).
Her previous work was centered on unraveling SMA mechanisms and advancing therapeutic developments. In addition to her research career, Ania dedicated four years to patient advocacy with SMA Foundation in Poland, effectively influencing healthcare policies for better drug reimbursement and the inclusion of SMA in newborn screening programs.
Today, as a Program Director, she brings this wealth of experience, combining her deep scientific knowledge and proven impact in rare disease patient advocacy, to guide and shape future initiatives.
Become part of a movement that is changing the landscape of HSPB8 Myopathy.
Whether you're affected by the condition, a healthcare professional, or simply a compassionate ally, your involvement can make a profound difference.
Join us in our fight against HSPB8 myopathy. Together, we can turn our vision into reality.
