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BioWorld - Sunday, June 21, 2026
Home » Topics » Genetic/congenital, BioWorld Science

Genetic/congenital, BioWorld Science
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Hematologic

Small activating RNA therapy exhibits efficacy in sickle cell disease context

Jan. 10, 2025
Beta-hemoglobinopathies are genetic blood disorders caused by mutations that impact the normal production or structure of hemoglobin.
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Endocrine/metabolic

Series A financing at Alesta Therapeutics to advance programs in hypophosphatasia and CMT

Jan. 9, 2025
Alesta Therapeutics BV has closed an oversubscribed €65 million (US$67 million) series A financing round designed to support development of its two small-molecule therapeutics.
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Ultrasound photo and pregnancy test on mantle with Christmas garland
Women's health

Scientists deliver the latest advances in pregnancy health

Dec. 31, 2024
By Mar de Miguel
Around the end of every year, the media reports on pregnancy and women who give birth on the last and first days of the new year. They tell their stories, the names of their babies and the cities where they were born. While 2024 was coming to an end, gynecologists and other researchers finalized their publications to improve the health of women and their babies. The formation of the placenta or the study of preeclampsia are some of the first and last stories that greet and say goodbye to 2024. Those of 2025 will be born soon.
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Drug discovery illustration
Biomarkers

Loss-of-function variants linked to neurodevelopmental disorder with hypercholanemia

Nov. 26, 2024
WD repeat domain 83 opposite strand (WDR83OS) encodes the 106-aa (amino acid) protein Asterix, which is a binding partner for CCDC47. More specifically, Asterix heterodimerizes with CCDC47 to form the protein associated with ER translocon (PAT) complex that specifically chaperones large proteins containing transmembrane domains.
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Illustration of muscle tissue anatomy
Musculoskeletal

Dystrophies affect not just muscles; can RNA editing help?

Nov. 26, 2024
By Mar de Miguel
At the Breakthroughs in Muscular Dystrophy special meeting held in Chicago Nov. 19-20, 2024, and organized by the American Society of Gene & Cell Therapy (ASGCT), multiple interventions at the RNA level were among the approaches that were presented to fight muscular dystrophies.
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Illustration of man holding magnifying glass to human body model showing muscle anatomy
Musculoskeletal

In muscular dystrophies, gene therapies race the clock

Nov. 25, 2024
By Mar de Miguel
Since the isolation of the gene that causes Duchenne muscular dystrophy (DMD), scientists have progressed in understanding the mechanisms that lead to muscular diseases that can be evident from the early stages of childhood. This has led to the development of diagnostics and therapeutics, some approved by the FDA.
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D-rendered image showing atlas of human embryonic skeletal development
Drug design, drug delivery & technologies

More than 100M cells included in the human cell atlas

Nov. 21, 2024
By Mar de Miguel
An international consortium of thousands of scientists is creating the Human Cell Atlas, a three-dimensional map of all the cells in the body. The goal is to understand all the cells that make up human tissues, organs and systems, which will enable multiple medical applications. This collection of cell maps is openly available for navigation at single-cell resolution, identified through omics analyses that reveal the tridimensional distribution of each cell.
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Illustration of human heart with DNA structure background
Cardiovascular

EDG-7500 reverses nonobstructive hypertrophic cardiomyopathy in vivo

Nov. 20, 2024
Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disorder with around 85% of people with HCM remaining undiagnosed. There are no treatments approved for nonobstructive HCM (nHCM) to date.
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Genetic/congenital

Novel KDM3B variant found in atypical Diets-Jongmans case

Nov. 19, 2024
The KDM3B gene encodes the histone lysine demethylase lysine-specific demethylase 3B, which is involved in the regulation of transcription.
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DNA on digital background
Drug design, drug delivery & technologies

‘Evo’ AI can design complete genomes

Nov. 18, 2024
By Mar de Miguel
The development of new machine learning tools like Alphafold and Rfdiffusion has allowed scientists to predict the structure of proteins and design them for drug discovery purposes, among other uses. Now, scientists at the Arc Institute have created Evo, an AI model that generates DNA sequences and estimates their interaction with other molecules at single-nucleotide resolution, scalable to an entire genome.
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