multimodal management of hormonal and oncological progression in pthrp secreting pancreatic neuroendocrine tumours

Original title: “Multimodal management of hormonal and oncological progression in PTHrP-secreting pancreatic neuroendocrine tumours.”

The Gene Therapy Landscape in Rare Disease is Maturing Gene therapies for rare diseases are moving from isolated, one-off interventions to an established treatment modality with significant implications for healthcare delivery and system design. By the end of 2025, the US Food and Drug ... The Gene Therapy Landscape in Rare Disease is Maturing Gene therapies for rare diseases are moving from isolated, one-off interventions to an established treatment modality with significant implications for healthcare delivery and system design. By the end of 2025, the US Food and Drug Administration (FDA) had approved 26 gene therapies across in vivo, ex… Gene therapies for rare diseases are moving from isolated, one-off interventions to an established treatment modality with significant implications for healthcare delivery and system design. By the end of 2025, the US Food and Drug Administration (FDA) had approved 26 gene therapies across in vivo, ex vivo, and cell-based platforms. This raises a core question for the rare disease sector: Can infrastructures built for scarcity sustain delivery, evidence generation, and oversight at scale? Figure 1. FDA-approved Gene Therapies by Modality and Year (2015–2025) Note: Excludes non–gene-modified cell therapies. Despite recent advances, fewer than 5% of rare diseases have an approved therapy, leaving the vast majority of conditions without effective treatment options. Temporal Mismatch: Annual Systems, Multi-decade Obligations · Gene therapies are typically administered once, yet their benefits, risks, and evidentiary obligations unfold over many years.

Original title: “Gene Therapy in Rare Disease: From Breakthrough to Stewardship | Avalere Health Advisory”

In this episode of Denatured, Jennifer C. Smith-Parker speaks with Dr. Rob Monroe and Jennifer Fakish at Danaher Corporation. They discuss how antibody drug conjugates (ADCs) are transforming cancer care. With AI-powered pathology, doctors can now measure HER2 more precisely to match patients with the best treatments.

Original title: “Digital Pathology, AI and the Future of ADCs and HER2 Cancer Treatment”

survival and prognostic factors of 215 post transplant lymphoproliferative disorders after solid organ transplantations in a finnish nationwide population based study over 30 years

Original title: “Survival and Prognostic Factors of 215 Post-Transplant Lymphoproliferative Disorders After Solid Organ Transplantations in a Finnish Nationwide Population-Based Study Over 30 Years.”

A new platform is being developed by Great Ormond Street Hospital and LifeArc in collaboration with the Children’s Hospital Alliance A new initiative promises faster diagnoses and improved treatments for children living with rare diseases across the UK. Dr Sam Barrell, chief executive of LifeArc, said: “Thousands of children are diagnosed every year with a rare disease, and the vast majority currently have little hope of a treatment, let alone a cure. “Having this data made this possible, and we want this for more families living with a rare disease. “Children need the best start in life and getting a diagnosis sooner means having more knowledge, and maybe, in the future, it could help lead to new treatments. Professor Neil Sebire, chief research information officer at Gosh, said: “Harnessing paediatric specialist data is pivotal for rare disease research.

Original title: “Millions of children with rare diseases set to benefit from faster diagnosis and better treatments | The Independent”

A follow-up analysis of a clinical trial that evaluated anti-PD-1 therapy in patients with cancer who are living with HIV provides mechanistic insights into transcriptomic, cellular and cytokine changes related to immune checkpoint inhibitor treatment and identifies a signature associated with ... A follow-up analysis of a clinical trial that evaluated anti-PD-1 therapy in patients with cancer who are living with HIV provides mechanistic insights into transcriptomic, cellular and cytokine changes related to immune checkpoint inhibitor treatment and identifies a signature associated with clinical response. Antiretroviral therapy (ART) suppresses HIV but does not eliminate the latent viral reservoir, which persists in programmed cell death protein 1 (PD-1)-expressing CD4+ T cells. Anti-PD-1 therapies have reduced the HIV reservoir in people living with HIV (PLWH) and cancer; however, the individuals who benefit and the mechanisms driving reservoir reduction remain unclear. Nature Medicine - A follow-up analysis of a clinical trial that evaluated anti-PD-1 therapy in patients with cancer who are living with HIV provides mechanistic insights into transcriptomic,... We performed a prespecified exploratory, longitudinal multiomic profiling of 30 PLWH (29 males and one female) with cancer in the phase 1 CITN-12 clinical trial, in which pembrolizumab was evaluated for safety and preliminary antitumor activity. The therapy was generally well tolerated, with most adverse events graded 1–2 and objective antitumor response observed in five participants (one complete response and four partial responses). Within 24 hours of treatment, we observed an expansion of proliferating HIV-specific effector CD8+ T cells and a decline in plasma TGFβ.

Original title: “Innate antiviral and immune functions associated with the HIV reservoir decay after anti-PD-1 therapy | Nature Medicine”

successful reduced intensity cord blood transplantation in infants with familial hemophagocytic lymphohistiocytosis type 2

Original title: “Successful reduced-intensity cord blood transplantation in infants with familial hemophagocytic lymphohistiocytosis type 2.”

standardizing quantitative muscle mri an inter vendor evaluation in healthy adults

Original title: “Standardizing quantitative muscle MRI: an inter-vendor evaluation in healthy adults.”

development and validation of prediction model for early allograft dysfunction following liver transplantation based on systematic review and meta analysis

Original title: “Development and validation of prediction model for early allograft dysfunction following liver transplantation based on systematic review and meta-analysis.”

advanced molecular techniques in distinguishing monozygotic twins for forensic applications

Original title: “Advanced molecular techniques in distinguishing monozygotic twins for forensic applications.”

carotid endarterectomy with active extracorporeal perfusion for bilateral ocular ischemic syndrome in a patient with a preoperatively defined critical single vessel cerebral supply on four dimensional flow magnetic resonance imaging

Original title: “Carotid endarterectomy with active extracorporeal perfusion for bilateral ocular ischemic syndrome in a patient with a preoperatively defined critical single-vessel cerebral supply on four-dimensional flow magnetic resonance imaging.”

new onset nonarteritic anterior ischemic optic neuropathy and initiators of semaglutide in us veterans with type 2 diabetes

Original title: “New-Onset Nonarteritic Anterior Ischemic Optic Neuropathy and Initiators of Semaglutide in US Veterans With Type 2 Diabetes.”

association between autoantibodies and interstitial lung disease in autoimmune disease patients a retrospective study

Original title: “Association between autoantibodies and interstitial lung disease in autoimmune disease patients: a retrospective study.”

burden of hereditary angioedema results from a multinational survey of caregivers for adult and pediatric patients

Original title: “Burden of hereditary angioedema: results from a multinational survey of caregivers for adult and pediatric patients.”

associations between toxic metal exposure and childhood nephrotic syndrome

Original title: “Associations Between Toxic Metal Exposure and Childhood Nephrotic Syndrome.”

genetic findings in ten ecuadorian patients with suspected wilson s disease

Original title: “Genetic findings in ten Ecuadorian patients with suspected Wilson's disease.”

nod2 related multisystem inflammatory disorders and recent advances

Original title: “NOD2-Related Multisystem Inflammatory Disorders and Recent Advances.”

understanding the burden of endocrine and metabolic disorders in prader willi syndrome data from the italian registry

Original title: “Understanding the burden of endocrine and metabolic disorders in Prader-Willi syndrome: data from the Italian registry.”

foundation models in radiology a primer for pediatric radiologists

Original title: “Foundation models in radiology: a primer for pediatric radiologists.”

epicardial fat necrosis leading to constrictive pericarditis missed diagnosis and subsequent resolution

Original title: “Epicardial Fat Necrosis Leading to Constrictive Pericarditis: Missed Diagnosis and Subsequent Resolution.”