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BioWorld - Thursday, April 30, 2026
Home » Topics » Disease categories and therapies » Genetic/congenital

Genetic/congenital
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Illustration of damaged nerve cell and amyloid plaques
Biomarkers

pTau217 could change how Alzheimer’s is diagnosed

Sep. 22, 2025
By Mar de Miguel
No Comments
Experts agree that the earlier Alzheimer's disease is detected, the sooner action can be taken. And so, the key to preventing deterioration is identifying the most effective early biomarkers, those that can spot the disorder and help halt its progression. Recent advances in the field have pushed a new era of early detection through blood-based biomarkers and personalized medicine strategies based on each patient’s genetic, immunological and clinical profile.
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Syringe in spotlight
Drug design, drug delivery & technologies

Cancer vaccines face collateral damage of mRNA funding cuts

Sep. 17, 2025
By Mar de Miguel
No Comments
When Robert Kennedy Jr. announced the cancellation of 22 projects related to mRNA vaccines and the end of new investments in that technology, the U.S. Secretary of Health only mentioned their use against respiratory viruses, without referring to other applications. The vaccines whose safety and effectiveness Kennedy is questioning are based on the same molecular principles as cancer vaccines under development. “Continued investment in mRNA technology is essential to fully realize its potential in oncology and ensure that promising strategies like neoantigen-based vaccines reach clinical application.” Kazuhiro Kakimi, professor at the Department of Immunology at Kindai University Faculty of Medicine, told BioWorld.
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Vial and syringe in row of dominoes
Drug design, drug delivery & technologies

The domino effect of cutting mRNA vaccine research

Sep. 15, 2025
By Mar de Miguel
No Comments
In August, a press release from HHS announced the cancellation of 22 vaccine research projects based on mRNA, the latest available technology aimed at developing therapies for viral infections, cancer, and genetic conditions. What happens to mRNA innovation when funding dries up? This series explores how reductions in funding could impact mRNA technology, affecting innovation, research and future therapies.
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Lasker award winners 2025
Drug design, drug delivery & technologies

Lasker Awards honor the fine compartmentalization of life

Sep. 12, 2025
By Mar de Miguel
A tangle of DNA can look like a knotted ball in the cell nucleus. However, the genetic machinery has a complex and regulated structure. Its long repetitive sequences also seemed to have no function. They were called junk DNA, although they were not. The same happened with proteins and low-complexity domains, disordered chains of amino acids that were poorly understood. Nevertheless, that protein noise has turned into music for the 2025 Lasker Awards. These prizes have recognized the work of scientists who were able to see order in chaos.
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Human body skeleton with DNA science background art
Genetic/congenital

Vantictumab reverses bone defects in mice with osteopetrosis

Sep. 9, 2025
No Comments
At the American Society for Bone and Mineral Research (ASBMR) in Seattle, researchers from Ashibio Inc. reported preclinical efficacy data on vantictumab, a human monoclonal IgG2 lambda antibody that binds to multiple frizzled (FZD) receptors.
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Endocrine/metabolic

ABHD18 as a target to restore mitochondrial function in Barth syndrome

Sep. 8, 2025
No Comments
Barth syndrome is a rare genetic disorder caused by mutations in the TAZ gene, which encodes an enzyme essential for remodeling cardiolipin, critical for mitochondrial function. A recent study published in Nature identified the enzyme ABHD18 as a candidate deacylase in the cardiolipin biosynthesis pathway and a potential therapeutic target for this syndrome.
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Illustration of globe with DNA moving out of Africa
Cancer

African American ancestry study identifies lung cancer risk factors

Aug. 25, 2025
By Mar de Miguel
No Comments
Despite having lower smoking habits than other groups in the U.S., Black Americans are more likely to develop lung cancer, and their survival rates are significantly worse. What explains this disparity? Scientists at Vanderbilt University Medical Center have analyzed the genetics of their African ancestry in search of risk genes related to the disease and tobacco use. The results reveal new risk factors and confirm the presence of genetic variants that may contribute to the greater impact of lung cancer in this population.
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Eye and DNA
Ocular

Opus Genetics’ OPGx-BEST1 cleared to enter clinic

Aug. 19, 2025
No Comments
Opus Genetics Inc. has obtained IND clearance from the U.S. FDA application for OPGx-BEST1, a gene therapy for the treatment of bestrophin-1 (BEST1)-related inherited retinal disease (IRD).
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Medical illustration showing the front view of the brain in the skull.

Meninges’ lymphoid structures, not so good, so bad, or so ugly

Aug. 15, 2025
By Mar de Miguel
No Comments
A little-known tissue composed of a cluster of immune cells could offer novel insights into the development of neurological disorders. Meninges' immune system changes with age and neurodegeneration. Are they protecting the brain or fueling disease?
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Medical illustration showing the front view of the brain in the skull.
Neurology/psychiatric

Meninges’ lymphoid structures, not so good, so bad, or so ugly

Aug. 14, 2025
By Mar de Miguel
No Comments
A little-known tissue composed of a cluster of immune cells could offer novel insights into the development of neurological disorders. Meninges' immune system changes with age and neurodegeneration. Are they protecting the brain or fueling disease? Mapping and analyzing the so-called ectopic lymphoid structures (ELSs) in the meninges at different ages in preclinical models of neurodegenerative diseases such as Alzheimer's may help clarify whether they are good, bad, or ugly, as in the iconic film by Sergio Leone.
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