BioWorld. Link to homepage.

Clarivate
  • BioWorld
  • BioWorld Science
  • BioWorld Asia
  • Data Snapshots
    • Biopharma
    • Medical technology
    • Infographics: Dynamic digital data analysis
    • Index insights
    • NME Digest
  • Special reports
    • Infographics: Dynamic digital data analysis
    • Trump administration impacts
    • Under threat: mRNA vaccine research
    • BioWorld at 35
    • Biopharma M&A scorecard
    • Bioworld 2025 review
    • BioWorld MedTech 2025 review
    • BioWorld Science 2025 review
    • Women's health
    • China's GLP-1 landscape
    • PFA re-energizes afib market
    • China CAR T
    • Alzheimer's disease
    • Coronavirus
    • More reports can be found here

BioWorld. Link to homepage.

  • Sign In
  • Sign Out
  • My Account
Subscribe
BioWorld - Wednesday, February 11, 2026
Home » Topics » Disease categories and therapies » Genetic/congenital

Genetic/congenital
Genetic/congenital RSS Feed RSS

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.
Read More
Ultrasound photo and pregnancy test on mantle with Christmas garland

Scientists deliver the latest advances in pregnancy health

Jan. 3, 2025
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.
Read More
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.
Read More
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. 26, 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.
Read More
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.
Read More
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.
Read More
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.
Read More
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.
Read More
DNA on digital background
Drug design, drug delivery & technologies

‘Evo’ AI can design complete genomes

Nov. 20, 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.
Read More
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.
Read More
Previous 1 2 … 10 11 12 13 14 15 16 17 18 … 37 38 Next

Popular Stories

  • Today's news in brief

    BioWorld
    BioWorld briefs for Feb. 10, 2025.
  • Brain illustration

    MJFF grant supports Bexorg’s translational biomarker work

    BioWorld Science
    Bexorg Inc. has been awarded a research grant from The Michael J. Fox Foundation for Parkinson’s Research (MJFF) through the Targets to Therapies initiative to...
  • Illustration of SCAN in Parkinson’s vs healthy subcortex

    SCAN is core circuit affected in Parkinson’s disease

    BioWorld Science
    Parkinson’s disease (PD) is a neurodegenerative disorder that affects movement, and tremor is one of its signatures. But it is a much more wide-ranging disorder,...
  • Woman and 3D brain

    Astellas’ ASP-2246 shows promise in stroke management

    BioWorld Science
    Astellas Pharma Inc. recently presented data regarding ASP-2246, a drug candidate comprised of an mRNA encoding the transcription factor NeuroD1 encapsulated in...
  • News in brief

    BioWorld Asia
    BioWorld Asia briefs for Feb. 10, 2026
  • BioWorld
    • Today's news
    • Analysis and data insight
    • Clinical
    • Data Snapshots
    • Deals and M&A
    • Financings
    • Medical technology
    • Newco news
    • Opinion
    • Regulatory
  • BioWorld Science
    • Today's news
    • Biomarkers
    • Cancer
    • Conferences
    • Endocrine/metabolic
    • Immune
    • Infection
    • Neurology/psychiatric
    • NME Digest
    • Patents
  • BioWorld Asia
    • Today's news
    • Analysis and data insight
    • Australia
    • China
    • Clinical
    • Deals and M&A
    • Financings
    • Newco news
    • Regulatory
    • Science
  • More
    • About
    • Advertise with BioWorld
    • Archives
    • Article reprints and permissions
    • Contact us
    • Cookie policy
    • Copyright notice
    • Data methodology
    • Infographics: Dynamic digital data analysis
    • Index insights
    • Podcasts
    • Privacy policy
    • Share your news with BioWorld
    • Staff
    • Terms of use
    • Topic alerts
Follow Us

Copyright ©2026. All Rights Reserved. Design, CMS, Hosting & Web Development :: ePublishing