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BioWorld - Wednesday, December 17, 2025
Home » Topics » Disease categories and therapies » Genetic/congenital

Genetic/congenital
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Illustration of ecDNA inheritance in cancer

Extrachromosomal DNA acts as joker for cancer cells

Nov. 13, 2024
By Mar de Miguel
Cancer therapies can eliminate specific tumors based on their genetic content. However, some cancer cells survive. How do they do it? Part of the answer lies in extrachromosomal DNA (ecDNA), an ace up the tumors’ sleeve to adapt and evade attack. Three simultaneous studies in the journal Nature lay all the cards on the table, revealing ecDNAs’ content, their origin, their inheritance, their influence in cancer, and a way to combat them.
Read More
Mouth open wide showing cleft palate
Biomarkers

GRHL2, GRHL3 variants tied to orofacial clefting

Nov. 13, 2024
Orofacial clefting is a common birth defect that affects 1 in 700 newborns, and includes cleft lip, cleft palate and cleft lip and palate, with a strong genetic component, thus being highly heritable. Researchers have identified new gene variants tied to orofacial clefting.
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Genetic/congenital

GTF2H1 de novo genetic variants tied to developmental delay

Nov. 13, 2024
At the annual meeting of the American Society for Human Genetics, scientists presented three new cases of Kabuki syndrome presented with developmental delay, autism and myopia as the common traits.
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Illustration of ecDNA inheritance in cancer

Extrachromosomal DNA acts as joker for cancer cells

Nov. 12, 2024
By Mar de Miguel
Cancer therapies can eliminate specific tumors based on their genetic content. However, some cancer cells survive. How do they do it? Part of the answer lies in extrachromosomal DNA (ecDNA), an ace up the tumors’ sleeve to adapt and evade attack. Three simultaneous studies in the journal Nature lay all the cards on the table, revealing ecDNAs’ content, their origin, their inheritance, their influence in cancer, and a way to combat them.
Read More
Illustration highlighting the adrenal glands and kidneys
Biomarkers

CASZ1 found as possible monogenic cause of primary aldosteronism

Nov. 12, 2024
Primary aldosteronism (PA), caused by bilateral adrenal hyperplasia or aldosteronomas, is the leading cause of endocrine hypertension, with an estimated prevalence of 10%-20% in patients in tertiary hospitals.
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DNA illustration
Genetic/congenital

New gene therapy and mouse model for Ogden syndrome

Nov. 12, 2024
Investigators from New York State Office for People with Developmental Disabilities (OPWDD) and affiliated organizations have reported the discovery and preclinical characterization of a gene therapy as well as a new animal model for Ogden syndrome.
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Biomarkers

BIRC6 revealed as candidate gene for intellectual disability

Nov. 12, 2024
Complex genomic rearrangements (CGRs) involve large-scale genomic alterations with multiple breakpoints and are implicated in genetic diseases such as malformation syndromes, intellectual disability and neurodevelopmental disorders.
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Biomarkers

Amplification of PRKN gene linked to fetal demise

Nov. 11, 2024
Previous research linked copy number variations involving the PRKN gene with multiple birth defects, including neurodevelopmental disorders.
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Illustration of ecDNA inheritance in cancer
Cancer

Extrachromosomal DNA acts as joker for cancer cells

Nov. 11, 2024
By Mar de Miguel
Cancer therapies can eliminate specific tumors based on their genetic content. However, some cancer cells survive. How do they do it? Part of the answer lies in extrachromosomal DNA (ecDNA), an ace up the tumors’ sleeve to adapt and evade attack. Three simultaneous studies in the journal Nature lay all the cards on the table, revealing ecDNAs’ content, their origin, their inheritance, their influence in cancer, and a way to combat them.
Read More
Ocular

RNA-editing strategy to treat RHO-related retinitis pigmentosa

Nov. 7, 2024
Retinitis pigmentosa (RP) is the most common hereditary degenerative eye disease that leads to progressive vision loss, primarily caused by retinal degeneration.
Read More
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