rare genetic endocrine tumor syndromes vhl nf1 tsc and carney complex

Original title: “Rare genetic endocrine tumor syndromes: VHL, NF1, TSC, and Carney complex.”

neurofibromatosis type 1 in brazil pediatric care in the unified health system

Original title: “Neurofibromatosis Type 1 in Brazil: Pediatric Care in the Unified Health System.”

social construction of the good doctor expectations of physicians among adults with nf1

Original title: “The social construction of the "good doctor": Expectations of physicians among adults with NF1.”

whole genome sequencing in brazilian patients with neurofibromatosis type 1 including novel variants incidental findings and dual diagnoses

Original title: “Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses.”

alienation in adults with nf1 and parents of children with nf1 a mixed methods study on mental health and primary care experiences

Original title: “Alienation in adults with NF1 and parents of children with NF1: A mixed methods study on mental health and primary care experiences.”

let it be as it is between shock and acceptance emotional identity and cognitive responses to the diagnosis of neurofibromatosis type1

Original title: “"Let it be as it is": between shock and acceptance - emotional, identity, and cognitive responses to the diagnosis of neurofibromatosis type1.”

age trends of internalizing and externalizing problems in children with neurofibromatosis type 1 a multicenter study

Original title: “Age trends of internalizing and externalizing problems in children with neurofibromatosis type 1: a multicenter study.”

neuromyelitis optica spectrum disorder in a patient with neurofibromatosis type 1 mimicking spinal cord infarction

Original title: “Neuromyelitis optica spectrum disorder in a patient with neurofibromatosis type 1 mimicking spinal cord infarction.”

development of an adult neurofibromatosis clinic in the comprehensive cancer center setting and descriptive analysis of the first 100 patients with neurofibromatosis type 1

Original title: “Development of an adult neurofibromatosis clinic in the comprehensive cancer center setting and descriptive analysis of the first 100 patients with neurofibromatosis type 1.”

neurofibromatosis type 1 with bladder neurofibroma followed by retroperitoneal malignant peripheral nerve sheath tumor a case report

Original title: “Neurofibromatosis type 1 with bladder neurofibroma followed by retroperitoneal malignant peripheral nerve sheath tumor: a case report.”

differences in optic pathway glioma prevalence among children with neurofibromatosis type 1

Original title: “Differences in Optic Pathway Glioma Prevalence among Children with Neurofibromatosis Type 1.”

At FDA Rare Disease Day 2026, leaders highlighted new regulatory pathways, faster review programs, and patient-centered innovations accelerating treatments for rare diseases, including NF1 and pediatric cancers. From the Plausible Mechanism Framework to expanded real-world evidence use, the ... At FDA Rare Disease Day 2026, leaders highlighted new regulatory pathways, faster review programs, and patient-centered innovations accelerating treatments for rare diseases, including NF1 and pediatric cancers. From the Plausible Mechanism Framework to expanded real-world evidence use, the message was clear: Urgency, flexibility, and patient voice are driving rare disease drug development forward. The example illustrates how flexible designs and meaningful endpoints can bring treatments to patients with conditions that historically had few options. For many families affected by NF1 and other rare conditions, Rare Disease Day is personal. In my recent LinkedIn newsletter reflecting on Rare Disease Month and my mother’s experience with NF1, I wrote about the intersection of science, advocacy, and gratitude. On Rare Disease Day, the reminder for IPC leaders is clear: rare does not mean irrelevant. Preparedness, surveillance, and stewardship remain foundational. Rare Disease Day 2026 at the Food and Drug Administration carried a tone of urgency, momentum, and collaboration. The theme is ““Moving forward. Looking ahead. An event for patients.” Throughout the event, agency leaders, clinicians, patient advocates, and scientists emphasized that progress in rare diseases depends not only on regulatory flexibility, but on listening carefully to the lived experiences of patients and families.

Original title: “FDA Rare Disease Day 2026: Moving Forward With Urgency, Innovation, and Patient Voice | Infection Control Today”

At FDA Rare Disease Day 2026, leaders highlighted new regulatory pathways, faster review programs, and patient-centered innovations accelerating treatments for rare diseases, including NF1 and pediatric cancers. From the Plausible Mechanism Framework to expanded real-world evidence use, the ... At FDA Rare Disease Day 2026, leaders highlighted new regulatory pathways, faster review programs, and patient-centered innovations accelerating treatments for rare diseases, including NF1 and pediatric cancers. From the Plausible Mechanism Framework to expanded real-world evidence use, the message was clear: Urgency, flexibility, and patient voice are driving rare disease drug development forward. The example illustrates how flexible designs and meaningful endpoints can bring treatments to patients with conditions that historically had few options. For many families affected by NF1 and other rare conditions, Rare Disease Day is personal. In my recent LinkedIn newsletter reflecting on Rare Disease Month and my mother’s experience with NF1, I wrote about the intersection of science, advocacy, and gratitude. On Rare Disease Day, the reminder for IPC leaders is clear: rare does not mean irrelevant. Preparedness, surveillance, and stewardship remain foundational. Rare Disease Day 2026 at the Food and Drug Administration carried a tone of urgency, momentum, and collaboration. The theme is ““Moving forward. Looking ahead. An event for patients.” Throughout the event, agency leaders, clinicians, patient advocates, and scientists emphasized that progress in rare diseases depends not only on regulatory flexibility, but on listening carefully to the lived experiences of patients and families.

Original title: “FDA Rare Disease Day 2026: Moving Forward With Urgency, Innovation, and Patient Voice | Infection Control Today”