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BioWorld - Monday, April 6, 2026
Home » Topics » Disease categories and therapies » Genetic/congenital

Genetic/congenital
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Bowhead whales swimming in the Arctic ice fields
Aging

Better DNA repair helps bowhead whales live longer, cancer free

Oct. 31, 2025
By Mar de Miguel
No Comments
Bowhead whales (Balaena mysticetus) live year-round in the icy or near-icy waters of the Arctic and sub-Arctic. Although they migrate with the seasonal cycles of ice formation and melting, they never reach the warmer waters visited by other large marine mammals. Their adaptation to low temperatures may have also enabled them to live longer and avoid cancer, a disease closely linked to aging.
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Art concept for RNA and protein

Genetic code governing how mutations affect mRNA uncovered

Oct. 30, 2025
By Tamra Sami
No Comments
Researchers at Monash University in Melbourne, Australia, have uncovered the hidden code governing how genetic mutations affect RNA splicing and result in disease. The researchers were able to identify the specific mutations that cause changes in RNA splicing, Sureshkumar Balasubramanian, the lead researcher at Monash University’s School of Biological Sciences, told BioWorld.
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Art concept for RNA and protein
Genetic/congenital

Genetic code governing how mutations affect mRNA uncovered

Oct. 28, 2025
By Tamra Sami
No Comments
Researchers at Monash University in Melbourne, Australia, have uncovered the hidden code governing how genetic mutations affect RNA splicing and result in disease. The researchers were able to identify the specific mutations that cause changes in RNA splicing, Sureshkumar Balasubramanian, the lead researcher at Monash University’s School of Biological Sciences, told BioWorld.
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Art concept for epigenetic editing

Epigenetic switch and gene editing activate human T cells

Oct. 24, 2025
By Mar de Miguel
No Comments
Durable reprogramming of human T cells may now be possible thanks to a new technique based on the CRISPRoff and CRISPRon methodology. Researchers from the Arc Institute, Gladstone Institutes, and the University of California San Francisco have stably silenced or activated genes in this type of immune cell without cutting or altering its DNA, making T cells more resistant, active, and effective against tumors.
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Art concept for epigenetic editing
Drug design, drug delivery & technologies

Epigenetic switch and gene editing activate human T cells

Oct. 22, 2025
By Mar de Miguel
No Comments
Durable reprogramming of human T cells may now be possible thanks to a new technique based on the CRISPRoff and CRISPRon methodology. Researchers from the Arc Institute, Gladstone Institutes, and the University of California San Francisco (UCSF) have stably silenced or activated genes in this type of immune cell without cutting or altering its DNA, making T cells more resistant, active, and effective against tumors.
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Endocrine/metabolic

Preclinical data on single-dose gene editing system for AATD

Oct. 21, 2025
No Comments
Alpha-1 antitrypsin deficiency (AATD) is a monogenic disease caused by mutations in the SERPINA1 gene, which encodes alpha-1 antitrypsin (AAT), a serine protease inhibitor mainly produced by hepatocytes.
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Illustration demonstrating structure of the human eye and organization of retinal cells
Genetic/congenital

rAAV2-U1a-hELP1 rescues RGC function in familial dysautonomia

Oct. 20, 2025
No Comments
Familial dysautonomia (FD) is an autosomal recessive neurodevelopmental disorder.
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Endocrine/metabolic

Genescience Pharmaceuticals describes new PAH stabilizers for PKU

Oct. 17, 2025
Genescience Pharmaceuticals Co. Ltd. has identified phenylalanine hydroxylase (PAH) (R408W mutant) stabilizers reported to be useful for the treatment of phenylketonuria (PKU).
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Illustration of DNA, magnifying glass
Genetic/congenital

Study identifies three new genes linked to cleft lip, palate risk

Oct. 16, 2025
No Comments
A recent study published in PLOS Genetics has identified several novel genetic variants associated with the risk of orofacial clefts, a common and complex congenital disability. Orofacial clefts are caused by a combination of genetic and environmental factors and can occur in isolation or simultaneously with other birth defects.
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Brain and DNA
Neurology/psychiatric

AAV to deliver SynGAP1 gene against neurological disorders

Oct. 15, 2025
No Comments
Some 1 million people around the world suffer severe neurological problems, such as epilepsy, motor impairment and cognitive dysfunction, because they express insufficient SynGAP1, a GTPase-activating protein that operates postsynaptically. Current therapies can mitigate symptoms but not cure the underlying disease. Researchers at the Allen Institute and collaborators have demonstrated a potential genetic cure for SynGAP1 deficiency.
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