We are proud to collaborate with organizations that help us advance our mission of delivering innovative therapies to those with rare diseases linked to the PPi-Adenosine Pathway.
GACI Global
GACI Global is a nonprofit organization whose mission is to connect families affected by generalized arterial calcification of infancy (GACI) or hypophosphatemic rickets (ARHR2) caused by ENPP1 or ABCC6 Deficiencies to each other and to the medical community. We partners closely with GACI Global to enhance disease awareness and support community engagement. Through this partnership, we assist in disseminating vital educational content, co-host awareness events, and participate in research initiatives aimed at improving patient outcomes. Our collaboration ensures that the voices of the ENPP1 Deficiency and ABCC6 Deficiency communities are amplified. The impact of these efforts, including personal stories from affected families, is highlighted on our Patient Stories page.
BeginNGS
BeginNGS is a novel health care delivery system designed to screen newborns for genetic diseases and connect their doctors with effective interventions. Rady Children’s Institute for Genomic Medicine (RCIGM) founded the program, which uses whole genome sequencing (WGS) as a screening tool for newborns to identify genetic conditions as early as possible. Our involvement includes providing expertise and resources to expand the screening capabilities, advocating for broader adoption of WGS in newborn screening programs, and working alongside RCIGM to connect diagnosed families with appropriate care pathways and therapeutic options. This partnership underscores our commitment to early diagnosis and intervention, which are crucial for improving long-term patient outcomes.
Genomenon
Genomenon is a genomics intelligence company in the lead position to be the first to curate the entire human genome. Their team is dedicated to improving the quality of patients’ lives by characterizing the genomic drivers of genetic disease and cancer. Blending the power of AI with the precision of genomic expertise, Genomenon simplifies complex genetic data into actionable insights for patient diagnosis and precision medicine development. This partnership allows us to leverage Genomenon’s AI-driven platform and genomic expertise to identify novel genetic markers and potential therapeutic targets for conditions like ENPP1 and ABCC6 Deficiencies. Together, we aim to transform these insights into innovative treatment solutions that address unmet medical needs, enhancing our precision medicine approach and bolstering our research and development efforts in rare diseases.
PXE International
PXE International was founded in 1995 to promote research and support individuals affected by pseudoxanthoma elasticum (PXE). They work on behalf of individuals and their families to improve quality of life through advancing research, educating clinicians, and supporting individuals.
We are expanding our global footprint
We are enhancing disease awareness and providing robust medical education across North America, Europe, Brazil, Japan, and the Middle East. Our initiatives are tailored to meet the unique needs of healthcare professionals, patients, and caregivers in these regions, ensuring that vital information about rare and debilitating diseases is accessible and impactful.
Genomics England
Genomics England partners with the UK’s National Health System (NHS) to provide whole genome sequencing diagnostics. The organization also equips researchers with resources to find causes of diseases and develop new treatments. Inozyme partnered with Genomics England to include generalized arterial calcification of infancy (GACI) in its Generation Study. Through this program, Genomics England will sequence the genes of more than 100,000 infants, paving the way for potential widespread implementation of whole-genome sequencing in newborn screening.
PreventionGenetics
PreventionGenetics is passionate about human genetics and its power to improve lives using their whole-genome sequencing test, PGnome®, and whole-exome sequencing test, PGxome®. Inozyme partners with PreventionGenetics to provide free genetic testing in an effort to identify people living with ENPP1 and ABCC6 Deficiencies, along with other rare conditions.
Hope for GacI
Hope for GACI was founded by the parents of Natalie Van Wyk, a GACI survivor. The mission of the organization is to raise awareness about the condition and to provide families with children affected by GACI, with hope and to let them know that they are not alone. The organization provides information about GACI, biographies of noted GACI researchers, and links to relevant articles from respected medical journals.
Rare Disease Organizations
National Organization for Rare Disorders (NORD)
NORD is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 280 patient organization members, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services.
Eurodis Rare Diseases Europe
Their vision is to enable better lives and cures for people living with a rare disease. Their mission is to work across borders and diseases to improve the lives of people living with a rare disease. Eurodis offers information about rare diseases and networking opportunities.
Global Genes
Global Genes’ mission is to eliminate the challenges of rare disease. They aim to build awareness, educate the global community, and provide critical connections and resources that equip advocates to become activists for their disease.
Rare Disease Foundation
The Rare Disease Foundation is focused on linking basic science and clinical practice to increase the efficiency of rare disease research. This model is called Translational Care. This model drives patient based, treatment focused research projects from disease characterization to treatment with greater efficiency.
Orphanet
Orphanet is a unique resource, gathering and improving knowledge on rare diseases to improve the diagnosis, care and treatment of patients with rare diseases. Orphanet aims to provide high-quality information on rare diseases and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAnumber), essential in improving the visibility of rare diseases in health and research information systems.
PXE International
PXE International was founded in 1995 to promote research and support individuals affected by pseudoxanthoma elasticum (PXE). They work on behalf of individuals and their families to improve quality of life through advancing research, educating clinicians, and supporting individuals.
