rare association of extensive myelinated retinal nerve fibers with vascular abnormalities and vitreous hemorrhage a case report

Original title: “Rare association of extensive myelinated retinal nerve fibers with vascular abnormalities and vitreous hemorrhage: A case report.”

Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological disorder, or KAND. Launched in 2020 by Ionis Pharmaceuticals founder and CNBC Advisory Board member Dr. Stanley Crooke, n-Lorem is a nonprofit organization that develops antisense oligonucleotide, or ASO, therapies for patients with nano-rare diseases and provides the treatments to the patients for free for life. At the time of Susannah's diagnosis, in 2016, there were no treatments for KIF1A, and no clinical trials underway or literature to lean on for answers. Susannah Rosen at the hospital for her ASO treatment. ... "The FDA defines rare disease as a patient population of 200,000," Crooke said in an interview with CNBC. "But we now know that there are many, many pathogenic mutations that produce disease in far fewer patients ... Patients with the same mutation can be treated with the same medicine, but if n-Lorem needs to develop a new treatment, the average cost is $1.2 million, he said. Since the foundation's launch, it's had more than 400 rare disease patient applicants, of which it has been able to accept about 200, Crooke said.

Original title: “Rare disease treatment: New drug fights neurological gene mutation”

NIH-funded, four-marker panel could one day help catch one of deadliest cancers at more treatable stages.

Original title: “Researchers identify new blood markers that may detect early pancreatic cancer”

The disease leads to the progressive growth of fluid-filled cysts in the kidneys, often resulting in kidney failure and other complications. This study marks the first in vivo evidence that base editing can be effective in kidney tissue, paving the way for similar approaches for other inherited kidney diseases. The research aligns with Mayo Clinic's Genesis initiative, focusing on preventing organ failure and restoring function through regenerative medicine and advanced therapies. Current treatments only slow disease progression without addressing the genetic root. Mayo Clinic's new approach uses CRISPR-based gene editing to precisely correct a DNA mutation in the PKD1 gene. Researchers developed two versions of a base editor, one for multiple organs and another specifically for kidney cells. This promising advancement directly targets the genetic mutation responsible for the condition, potentially altering the course of the disease. A single treatment of the gene therapy has shown to slow kidney cyst growth, improve heart and liver health, and extend survival in preclinical models. ROCHESTER, Minn. — Mayo Clinic researchers have made a significant breakthrough in treating autosomal dominant polycystic kidney disease (ADPKD) with a new gene-editing therapy.

Original title: “Mayo Clinic's gene therapy breakthrough targets most-common kidney disease | News | kimt.com”

aspergillus oryzae peritonitis in a patient undergoing peritoneal dialysis

Original title: “Aspergillus oryzae Peritonitis in a Patient Undergoing Peritoneal Dialysis.”

crystalline retinopathy in a child with hyperoxaluria type 1 ultrawide field imaging before and after treatment

Original title: “Crystalline retinopathy in a child with hyperoxaluria type 1: Ultrawide field imaging before and after treatment.”

study evaluating differences in 3d upper limb kinematics and surface electromyography measures in adults with and without facioscapulohumeral dystrophy

Original title: “A study evaluating differences in 3D upper limb kinematics and surface electromyography measures in adults with and without facioscapulohumeral dystrophy.”

expert consensus on characteristics etiology and management of chorioretinal atrophy in patients treated with voretigene neparvovec

Original title: “Expert Consensus on Characteristics, Etiology, and Management of Chorioretinal Atrophy in Patients Treated with Voretigene Neparvovec.”

This webinar will explore the current rare disease clinical development landscape and the key trends shaping its future. The webinar will highlight three major forces redefining how rare disease studies are designed and executed. First, the featured speaker will examine the rise of customizable platform trials and how adaptable trials can accelerate timelines while maintaining scientific rigor. Second, panelists will explore emerging technologies in rare disease therapeutics... This webinar will explore the current rare disease clinical development landscape and the key trends shaping its future. The webinar will highlight three major forces redefining how rare disease studies are designed and executed. First, the featured speaker will examine the rise of customizable platform trials and how adaptable trials can accelerate timelines while maintaining scientific rigor. Second, panelists will explore emerging technologies in rare disease therapeutics, including the growing role of ex vivo clinical trials and practical insights from cell therapy studies initiated with effective study start-up and patient recruitment strategies. Join this webinar to explore Rare Disease Clinical Development trends in adaptive trials, tech and global regulatory pathways. Woolfrey joined Medpace nine years ago, after a 25-year career in translational and clinical research in cell and gene therapies at the Fred Hutchinson Cancer Research Center (FHCRC)/University of Washington (UW). In addition to her role as the Medical Director of the Unrelated Donor Program at FHCRC/Seattle Cancer Care Alliance, she was Principal Investigator on numerous clinical trials and has more than 150 scientific publications in the fields of stem cell transplantation, transplant immunology, HIV and autoimmune diseases. Learn how to align innovative science with global regulatory expectations to successfully advance rare disease clinical development and programs to drive meaningful change for patients. ... Dr. Ann Woolfrey is board certified in internal medicine and pediatric hematology/oncology and provides clinical and scientific expertise in cellular therapies, transplantation immunology, hematology/oncology and gene therapy.

Original title: “3 Key Trends Transforming the Future of Rare Disease Clinical Development - Xtalks”

The UBC team, together with researchers ... gene therapy capable of correcting faulty genes when applied directly to human skin. Outlined today in a paper published in Cell Stem Cell, the breakthrough could lead to new treatments for a wide range of genetic skin conditions, from rare inherited diseases to more common disorders like ... The UBC team, together with researchers from the Berlin Institute of Health at Charité in Germany, has developed the first gene therapy capable of correcting faulty genes when applied directly to human skin. Outlined today in a paper published in Cell Stem Cell, the breakthrough could lead to new treatments for a wide range of genetic skin conditions, from rare inherited diseases to more common disorders like eczema. Importantly, the approach corrects the root cause of disease, and our data suggests that a one-time treatment might even be enough to provide a lasting and durable cure." Dr. Sarah Hedtrich, associate professor at UBC's school of biomedical engineering and senior author of the study · In the study, the researchers show the gene therapy can correct the most common genetic mutation behind autosomal recessive congenital ichthyosis (ARCI), a rare and life-threatening inherited skin disorder that appears at birth. Gene-editing tools like CRISPR have unlocked new treatments for previously uncurable diseases. Now, researchers at the University of British Columbia are extending those possibilities to the skin for the first time. While ARCI affects relatively few people, the researchers say the treatment strategy could be adapted to many other genetic skin diseases, including epidermolysis bullosa-a severe skin blistering condition often called 'butterfly skin'-and potentially more common conditions such as eczema or psoriasis. Medicaid tries new approach with sickle cell: Companies get paid only if costly gene therapies work · Scientists create new map showing how cancer gene mutations influence tumor growth · Gene therapy targeting connexin 43 shows promise across inherited heart diseases

Original title: “First topical CRISPR gene therapy corrects disease-causing mutations in human skin”

impact of oral phosphate supplements and active vitamin d treatment on dentoalveolar features of x linked hypophosphatemia

Original title: “Impact of oral phosphate supplements and active vitamin D treatment on dentoalveolar features of X-linked hypophosphatemia.”

natural history of coronary aneurysms associated with noonan s syndrome

Original title: “Natural history of coronary aneurysms associated with Noonan's syndrome.”

Study provides clearest evidence to date to link severe CTE to dementia risk.

Original title: “NIH-funded study clearly ties risk of dementia to severe CTE”

infant case of double chambered left ventricle with extensive non compaction revealed by intraoperative endoscopy

Original title: “An infant case of double-chambered left ventricle with extensive non-compaction revealed by intraoperative endoscopy.”

After a spate of patient deaths in 2025 linked to the company’s Duchenne gene therapy, Sarepta shared new data showing benefits of the therapy three years after dosing. In an investor call to discuss the second mortality, CEO Doug Ingram insisted that “liver injury is a known risk of AAV therapies.” · Still, the deaths ushered in months of regulatory difficulties and business realignment efforts for Sarepta. In July 2025, the biotech laid off around 500 employees in a pivot that included moving away from gene therapies and leaning into its siRNA pipeline. The benefits of taking Elevidys, Sarepta Therapeutics’ gene therapy for Duchenne muscular dystrophy, continue three years post treatment, the company said Monday. Monday’s readout comes after a tumultuous 2025 for Elevidys. In March, the gene therapy was implicated in the death of a young boy with DMD who developed acute liver injury leading to liver failure. Get daily news updates when you subscribe to GenePool!

Original title: “Sarepta’s DMD Gene Therapy Staves Off Disease Three Years After Treatment - BioSpace”

Agency seeks public comment on the robustness of emerging biotechnologies to reduce or potentially replace remaining research reliance on human embryonic stem cells.

Original title: “NIH Proposes Embryonic Stem Cell Research Shift to Put Patients First”

intralobar pulmonary sequestration coexisting with pulmonary cryptococcosis a case report and literature review

Original title: “Intralobar pulmonary sequestration coexisting with pulmonary cryptococcosis: A case report and literature review.”

effect of steroids on anti nephrin autoantibodies and b cells in minimal change disease

Original title: “Effect of Steroids on Anti-nephrin Autoantibodies and B cells in Minimal Change Disease.”

renal hematoma after ureteroscopy and retrograde intrarenal surgery incidence risk factors and management strategies application of the reveal framework from eau endourology

Original title: “Renal Hematoma after Ureteroscopy and Retrograde Intrarenal Surgery: Incidence, Risk Factors, and Management Strategies-Application of the REVEAL Framework from EAU Endourology.”