RTW Charitable Foundation Awards $650,000 to Teams Researching and Treating Rare Diseases Across Multiple Continents

Foundation’s Funding Goes Toward Rare Disease Research, New Technology Development, and Critical Equipment Procurement to Address Inequalities in Healthcare

New York, NY – RTW Charitable Foundation (RTWCF) today announced that it has awarded $650,000 in grants to four teams researching and combating pediatric, central nervous system and cardiovascular system rare diseases and conditions, and developing and increasing access to medical equipment that can drastically improve patients’ quality of life.

The work will be done across multiple continents and has the potential to alleviate suffering and improve the quality of life for countless individuals and families, including those in low- and middle income-countries and regions with underserved patient populations.

The grantees are National Institutes of Health and the CHARM Lab at Stanford University; the Global Genomic Medicine Collaborative and University of Maryland; Center for Translational Neuroscience at Brown University; and St John of Jerusalem Eye Hospital Group.

RTWCF was founded in 2018 as the charitable foundation arm of RTW Investments, LP, a leading healthcare-focused entrepreneurial investment firm with deep scientific expertise and a strong track record of supporting companies that are developing life-changing therapies.

The Foundation is proud to support pioneers who are breaking new ground in the fight against diseases that may not represent compelling commercial opportunities, but do result in significant human suffering.

RTWCF is able to provide capital, manpower, and logistical support to help scientists push such projects forward. In addition, the Foundation aims to assist in advocacy, disease awareness and directly support patients and their families.

Rare disease research and drug development for many rare diseases are underfunded given the limited commercial opportunities for these types of drugs in the market. RTWCF believes that a lack of profit should not stand in the way of developing promising treatments that can save and improve lives.

“There are at least 300 million people across the world living with rare diseases, and potentially more that we don’t yet know of,” said Dr. Deborah Slipetz, executive director of RTW Charitable Foundation. “But without proper funding to enable research and development, many patients must endure their symptoms without hope of treatment or even knowing why they are experiencing the symptoms, which can cause long diagnostic odysseys. Additionally, the majority of those living with rare diseases who receive diagnosis and treatment are residents of affluent countries. Our grantees are doing outstanding, groundbreaking work that has the potential to greatly improve the lives of those living with rare diseases and also tackle the serious inequities in rare disease healthcare. We are honored to have the opportunity to support their work.”

Funding from RTW Charitable Foundation will support the National Institutes of Health (NIH) and The Collaborative Haptics and Robotics in Medicine (CHARM) Lab at Stanford University to develop sensory restoration prosthesis for individuals with congenital absence of proprioception, caused by a deficiency in the PIEZO2 gene. Those with this condition cannot perceive their body without visual cues, making simple daily tasks a challenge. One individual with this condition explained their experience: “When I close my eyes, I lose my body.” This wearable sensory prosthesis prototype will map joint positions of the arm and to evaluate whether people with PIEZO2 deficiency can perceive and use their limbs normally.

“Our teams at NIH and Stanford are extremely excited and grateful that RTW Charitable Foundation chose to support this project applying advanced engineering to ameliorate a rare but highly impactful genetic disorder. We hope that this project will help PIEZO2 deficient individuals ‘find their body again’ while providing the blueprint for wearable smart robotic devices in many other conditions in which proprioception might be impaired,” said Carsten Bönnemann, senior investigator, Neuromuscular and Neurogenetic Disorders of Childhood Section at National Institutes of Health.

The Global Genomic Medicine Collaborative (G2MC) and the University of Maryland School of Medicine, with funding from RTWCF, will pilot a program to establish access to evidence-based exome sequencing for the diagnosis of rare uncharacterized and undiagnosed diseases in low- and middle-income (LIMC) countries. A team consisting of genomic medicine researchers, genetic counselors, a clinical geneticist, and a research coordinator will support local clinics in Malaysia, Sri Lanka, Chile, Mexico and South Africa with capacity building in clinical exome sequencing, diagnosis, and genetic counseling. Long-term, they plan to expand this network of care to 16 countries, establishing exome sequencing as the standard of care for rare disease diagnosis and building an international rare diseases clinical trials network in LIMCs to ultimately create treatments and cures.

“Advances in Genomic Medicine should translate to better health outcomes for all. Yet we all know that it takes time and effort for such translation to reach resource poor settings. The Global Genomic Medicine Collaborative is committed to ensuring that no one is left behind. Our aim is to enable Genomic Medicine everywhere, especially in low resourced settings. The grant from RTW Charitable Foundation has fast tracked out efforts by enabling our flagship project aimed at enabling genomic medicine in clinics caring for children with rare disorders in low resourced settings. Children in Chili, Malaysia, Mexico, South Africa, and Sri Lanka would benefit from this Project. It would be the beginning of a worldwide effort towards enabling Genomic Medicine in Clinics in low resourced settings,” said Professor Vajira H. W. Dissanayake, PhD, of the Global Genomic Medicine Collaborative.

The Center for Translational Neuroscience at Brown University received funding from RTW Charitable Foundation to establish a natural history study for Christianson Syndrome (CS). CS is a rare disease characterized by intellectual disability, microcephaly, seizures, ataxia, and absent speech. To date, the Center has described the genetic and phenotypic presentations of CS and established a robust patient registry. The next stage in the research, as recommended by the FDA, is a prospective natural history study to thoroughly characterize the patient population, pinpoint treatment targets and clinical outcome assessments, identify or develop new biomarkers, and establish controls for future studies. With this funding, The Center for Translational Neuroscience will assemble a team of international investigators to carry out this three-year, multi-site study. This will provide critical information for the development of potential gene therapy treatments for Christianson Syndrome.

“Establishing a natural history study for Christianson Syndrome will help us begin to properly diagnose the syndrome and understand what kinds of treatments may be effective. This has the potential to vastly improve the lives of those living with the syndrome and their families and caregivers, who must cope with serious and often debilitating symptoms. The Brown Center for Translational Neuroscience is very grateful to RTW Charitable Foundation for this grant supporting our work advancing knowledge of pathogenesis of brain disease and translating this knowledge to improved clinical outcomes for those affected,” said Dr. Eric Morrow, MD, PhD, principal investigator, Brown Center for Translational Neuroscience.

St John of Jerusalem Eye Hospital Group (SJEHG) provides expert eye care in the West Bank, Gaza and East Jerusalem, aiming to end preventable blindness in the Palestinian population, offering care to all who seek its services, irrespective of race, gender, religion, or ability to pay. Funding from RTW Charitable Foundation will enable SJEHG to procure two wide field retinal cameras to diagnose retinopathy of prematurity (ROP) in infants. Retinopathy of Prematurity affects 50% of premature babies, with 8% needing treatment to avoid permanent blindness. Such infants require regular and frequent retinal screening to determine appropriate management, with sight-saving measures including ocular laser and, in more severe cases, surgery. With limited ophthalmologists and basic screening equipment, cases of preventable blindness have been historically high in Palestine. These wide retinal cameras can be operated by trained medical staff with images being read remotely, saving ophthalmologists time and allowing for more frequent screening and follow up. This equipment will also provide more precise medical imaging for diagnosis and treatment.

“While incidence of Retinopathy of Prematurity is low in affluent regions of the world, cases of preventable blindness are high in Palestine, where many people lack the basic privileges of ordinary life. Blindness can lead to social isolation, a lack of access to education and a constant need to depend on others. This grant from RTW Charitable Foundation is going to help prevent children from going blind in one of the most impoverished areas of the world,” said Dr. David Verity, consultant ophthalmic surgeon, St John of Jerusalem Eye Hospital Group.

For its next round of funding, RTW Charitable Foundation will receive applications starting September 7th from research institutions, children’s hospitals, and other organizations engaged in pediatric, cardiovascular, and central nervous system rare disease research. To learn more about the upcoming grant cycle opportunity, visit www.rtwcf.org.

About RTW Charitable Foundation

Founded in 2018 as the charitable foundation arm of RTW Investments, LP, RTW Charitable Foundation works to improve opportunities for all people to live healthier, longer lives, and was created at the intersection of scientific advancements and humanitarian efforts. The Foundation funds rare disease research, patient support, humanitarian programs, education and advocacy efforts to alleviate human suffering. To learn more, visit www.rtwcf.org. For grant applications please reach out to grants@rtwcf.org.

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