CIENCIASMEDICASNEWS

miércoles, 4 de marzo de 2026

HAMRLNC: a comprehensive and scalable pipeline for integrated epitranscriptomic analysis Chosen E. Obih [1,†] , Jiatong Li [2,3,†] , Giovanni Melandri [1,4] , Duke Pauli [1,4] , Eric Lyons [1] , Andrew D. L. Nelson [5] , Brian D. Gregory* [2]

https://www.academia.edu/3064-9765/2/4/10.20935/AcadMolBioGen8059 As sequencing technologies advance and costs decline, there has been a surge in the application of RNA sequencing (RNA-seq) to understand the effects of gene expression regulation on specific biological processes. In addition to the typical uses of RNA-seq for transcriptomics, gene annotation, novel gene discovery, and network analysis, these data can enable a deeper understanding of cellular processes through the identification of RNA modifications (epitranscriptome) and long non-coding RNAs (lncRNAs). To expedite discovery, we developed a portable, centralized computational pipeline for the high-throughput annotation of modified ribonucleotides and long non-coding ribonucleic acids (HAMRLNC). HAMRLNC differs from existing methods by integrating three workflows for transcript abundance quantification, RNA modification inference, and lncRNA annotation using the same RNA-seq pre-processing and mapping steps. This facilitates reproducibility across multiple analyses and allows researchers to perform post hoc analyses of archived sequencing data. In addition, we include novel analysis features to enable downstream visualization of annotated modified RNAs. HAMRLNC generates over a dozen well-defined and labeled figures as output, including gene ontology heatmaps, modification enrichment landscapes, and modification clustering statistics. https://www.academia.edu/journals/academia-molecular-biology-and-genomics/articles?source=journal-top-nav

FDA approves first generic of Flovent HFA for treatment of asthma

https://www.fda.gov/drugs/drug-safety-and-availability/fda-approves-first-generic-flovent-hfa-treatment-asthma?utm_medium=email&utm_source=govdelivery On March 3, 2026, the U.S. Food and Drug Administration approved the first generic of Flovent HFA (fluticasone propionate) inhalation aerosol, 44 micrograms per actuation, for the maintenance treatment of asthma as prophylactic therapy in patients aged 4 years and older. Flovent HFA is an inhaled corticosteroid used as maintenance treatment for asthma. It works by reducing inflammation in the lungs, helping to prevent asthma symptoms such as wheezing and shortness of breath. "The approval of the first generic fluticasone propionate inhalation aerosol represents an important step in expanding access to affordable asthma treatment," said Iilun Murphy, M.D., Director of the Office of Generic Drugs in the FDA's Center for Drug Evaluation and Research. "Generic medications provide patients with safe, effective, and more affordable treatment options. The FDA remains committed to facilitating the development and approval of generic drugs to increase patient access to essential medicines." Asthma affects almost 25 million Americans, 4.6 million of whom are children. There are an estimated 10 million asthma attacks per year, and 3,500 children and adults die each year from asthma. By making available a generic fluticasone propionate inhalation aerosol product, FDA has provided clinicians and the American public another available and valuable treatment option. “Between 5 and 10% of Americans and just over 6% of children have an asthma diagnosis. Flovent is a highly effective preventive medication, which, when used regularly, has been linked to a reduction in asthma-related hospitalizations and admissions to intensive care. With the approval of the first generic metered dose inhaler form of the medication we anticipate increased availability and reduced costs of treating this prevalent and at times very serious condition” says Acting Director or CDER, Tracy Beth Hoeg, MD, PhD. “I am proud of the work CDER has done to bring this generic to market.” The prescribing information for the generic fluticasone propionate inhalation aerosol includes the same contraindications, warnings, and precautions as Flovent HFA. Fluticasone should not be used as a primary treatment in status asthmaticus or in other acute episodes of asthma requiring intensive measures or in people with hypersensitivity to any of the product components. Fluticasone carries warnings such as oropharyngeal candidiasis and immunosuppression. The prescribing information should be consulted for a full description of warnings and precautions and adverse effects associated with the drug. The FDA granted approval of fluticasone propionate inhalation aerosol to Glenmark Specialty SA. Please contact the manufacturer for information about the medicine’s availability. Flovent HFA is a registered trademark of GlaxoSmithKline https://www.cdc.gov/asthma/most_recent_national_asthma_data.htm?utm_medium=email&utm_source=govdelivery

The journey, not the destination 4 March 2026 Written by Becky Johnson

https://rarerevolutionmagazine.com/the-journey-not-the-destination/ Diagnosed with dystonia in 2022, Becky Johnson tells her story of living with RARE and how she is navigating a “new normal” To my spine: I implore you to mend. This past month, the hospital’s sterile halls have twice more been my stomping grounds. Tomorrow brings a pivotal summit with a new neurologist to help me navigate dystonia, a rare and incurable neurological movement disorder. While my esteemed doctor retreats into the quiet world of research, I get to meet with a new neurologist, who is kind, a compassionate listener. I can already tell they are ‘for’ me, and willing to go the extra mile. I thought I would be further along since my diagnosis in August of 2022 and could have returned to my life of 23 years of teaching/education by now. I am still learning my “new normal”. I stand in profound gratitude for the deep brain stimulation surgery I underwent in March, even as the calibration process reveals itself as a marathon rather than a sprint. We are currently fine-tuning the programming in my brain; I believe we have finally composed the most harmonious “symphony” of signals within my brain thus far. The process of titrating medications has not been easy, but successful, I think. We are considering re-enlisting botulinum toxin (commonly known as Botox) as the twitching and pulling continue in my neck and trapezius muscles. My physical therapist and counsellor serve as my north star; I cannot fathom navigating this disease without them. Life refuses to return to a traditional rhythm. I am striving to traverse this terrain with psychological grace, enforcing kind boundaries and summoning grit. My heart overflows for my husband, Quin, my teenage children, my parents, Quin’s extended family and dear friends.

Modeling the genomic instability of Huntington’s Disease with iPSC technology

https://axolbio.com/publications/modeling-the-genomic-instability-of-huntingtons-disease-with-ipsc-technology/?utm_source=azonetwork_customized_email&utm_medium=email&utm_campaign=modeling_the_genomic_instability_of_huntington_s_disease Modeling the genomic instability of Huntington’s disease with iPSC technology Axol Bioscience supports the HD community by developing iPSC lines from five HD patients and one asymptomatic carrier, including the CENSOi019‑B line (HTT: 14/125 CAG, now CAG143). This line contains an atypical allele that displays instability in culture and is associated with accelerated disease onset. Striatal neurons derived from this iPSC line provide a powerful model for longitudinal studies of repeat expansion and neurodegeneration, giving researchers a unique resource for advancing HD research and supporting drug discovery. HD is caused by CAG trinucleotide repeat expansion in the HTT gene, producing mutant huntingtin (mHTT) with toxic gain‑of‑function properties. CAG repeat length influences disease onset and progression, and the region is somatically unstable, expanding over time. Detecting and monitoring CAG expansion is key for understanding disease variability and evaluating new therapies. Human iPSC‑derived models retain the donor’s genetic background, CAG repeat mutations and can be differentiated into relevant cell populations including striatal neurons. These models provide a scalable and physiologically relevant platform for HD research. Learn more about modeling the genomic instability of Huntington’s disease with iPSC technology in this new whitepaper.