longitudinal change of bone microarchitecture and fracture risk in adults with osteogenesis imperfecta

Original title: “Longitudinal change of bone microarchitecture and fracture risk in adults with osteogenesis imperfecta.”

dose matters haploinsufficiency in osteogenesis imperfecta

Original title: “Dose matters: haploinsufficiency in osteogenesis imperfecta.”

atypical femoral fractures in adult patients with classical osteogenesis imperfecta

Original title: “Atypical Femoral Fractures in Adult Patients with Classical Osteogenesis Imperfecta.”

effectiveness of etoricoxib on bone microarchitecture in pho patients a 12 month longitudinal study assessed by hr pqct

Original title: “Effectiveness of etoricoxib on bone microarchitecture in PHO patients: A 12-month longitudinal study assessed by HR-pQCT.”

murine model of high bone mass osteogenesis imperfecta exhibits bone matrix hyper mineralization misaligned mineral crystals and altered osteoblast differentiation

Original title: “Murine model of high bone mass osteogenesis imperfecta exhibits bone matrix hyper-mineralization, misaligned mineral crystals, and altered osteoblast differentiation.”

protrusio acetabuli in osteogenesis imperfecta a two center study on incidence and associated factors

Original title: “Protrusio Acetabuli in Osteogenesis Imperfecta: A Two-Center Study on Incidence and Associated Factors.”

rare type 1 collagen variants in early onset bicuspid aortic valve disease clinical and genetic overlap with ehlers danlos syndrome and osteogenesis imperfecta

Original title: “Rare Type 1 Collagen Variants in Early-Onset Bicuspid Aortic Valve Disease: Clinical and Genetic Overlap with Ehlers-Danlos Syndrome and Osteogenesis Imperfecta.”

reduced penetrance of col1a1 2 pathogenic variants linked with osteogenesis imperfecta analysis of a large population cohort

Original title: “Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort.”

preserved bone mineral density in autosomal dominant sp7 related osteogenesis imperfecta a case report of the p glu340ala variant

Original title: “Preserved bone mineral density in autosomal dominant SP7-related osteogenesis imperfecta: a case report of the p.Glu340Ala variant.”

elevated periostin level in serum of adults with osteogenesis imperfecta is associated with disease severity

Original title: “Elevated periostin level in serum of adults with Osteogenesis Imperfecta is associated with disease severity.”

“It was the OI Foundation that really helped my family navigate my diagnosis, and I grew up going to the national conferences,” said Fynan. “It was becoming a mom of daughters with OI that really lit a fire underneath me to see how advocacy can be more than just another branch of what we are doing. It can be that acceleration for moving in the right direction in rare disease... “It was the OI Foundation that really helped my family navigate my diagnosis, and I grew up going to the national conferences,” said Fynan. “It was becoming a mom of daughters with OI that really lit a fire underneath me to see how advocacy can be more than just another branch of what we are doing. It can be that acceleration for moving in the right direction in rare disease.” “We also advocate for rare disease education within our education, ensuring that Quinnipiac students enter the workforce prepared to help patients with rare diseases.” · Students for Rare was supported in hosting this event by their faculty adviser, Maureen Helgren, who is an associate professor of medical sciences. Helgren expressed her fulfillment in advising the Students for Rare group. “The reality is that it is hard to live with a rare disease and to care for family and friends with a rare disease. Organizations such as NORD or disease-specific foundations began and continue to support the rare disease community,” said Helgren. Quinnipiac Students for Rare, a chapter of the National Organization for Rare Disorders (NORD), hosted its annual Rare Disease Day on the North Haven Campus on February 20 focusing on a condition called Osteogenesis Imperfecta (OI). With panelists ranging from research experts and clinicians to patients living with rare diseases, the event enriched students’ understanding of rare diseases and how they can support patients with rare diseases as future healthcare professionals. The center is nationally recognized and hosts many events throughout the year, with many focused on rare disease. The Center for Interprofessional Healthcare Education has encouraged students from various programs to collaborate as they prepare to support their patients.

Original title: “Student-led Rare Disease Day calls community to action | Quinnipiac Today”

The NORD Students for Rare chapter at Quinnipiac University, in collaboration with the Center for Interprofessional Education and Connecticut Children’s The NORD Students for Rare chapter at Quinnipiac University, in collaboration with the Center for Interprofessional Education and Connecticut Children’s Research Institute, are hosting “Rare Disease Day 2026: More Than You Can Imagine!”. Join us on February 20, 2026, as a team of patients, scientists, administrators, and advocates show how more research, more breakthroughs, and more action are bringing more hope to the Osteogenesis Imperfecta rare disease community. Your gift today fuels progress in the lab, in clinics, on Capitol Hill and for rare families who can’t wait another year for answers.

Original title: “Quinnipiac Rare Disease Day 2026: More Than You Can Imagine - National Organization for Rare Disorders”