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BioWorld - Thursday, April 16, 2026
Home » Topics » Disease categories and therapies » Genetic/congenital

Genetic/congenital
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Illustration of a pink head and blue head
Neurology/psychiatric

The brain ages and survives differently in females and males

Jan. 29, 2025
By Mar de Miguel
The way the brain ages is not the same in women and men. A study in mice has observed differences in the expression of the maternal and paternal X chromosomes that could explain variation in brain aging between the sexes and a faster deterioration in some women. Another study has discovered different survival strategies in the microglial cells of females and males. Both studies highlight sex differences that could have implications for several age-related neurological disorders, such as Alzheimer’s or Parkinson’s.
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Illustration of DNA, magnifying glass
Biomarkers

DAP3 gene behind Perrault syndrome, study finds

Jan. 23, 2025
Mitoribosomes are present in the mitochondria of all eukaryotic cells. Their function is to allow the translation of mitochondrial mRNA that exclusively encodes components of the oxidative phosphorylation complexes (OXPHOS).
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Red blood cells on blue background
Hematologic

Lentiviral vector improves anemia and iron metabolism in new model for X-linked sideroblastic anemia

Jan. 22, 2025
X-linked sideroblastic anemia (XLSA) is a rare genetic disorder caused by mutations in the ALAS2 gene, which plays a critical role in heme biosynthesis within red blood cells.
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White strand of DNA
Biomarkers

Wnt/PCP signaling mediators identified as new markers in yellow nail syndrome

Jan. 20, 2025
Researchers from Tel Aviv Sourasky Medical Center presented data from a study that aimed to investigate the genetic mechanisms underlying yellow nail syndrome (YNS), a rare disorder characterized by three features, namely yellow dystrophic nails, lymphedema and chronic lung disease.
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Histological staining of the caudate nucleus from a person with Huntington’s disease.
Neurology/psychiatric

Huntington’s neurodegeneration starts at 150 repeat expansions

Jan. 17, 2025
By Mar de Miguel
Having 35 copies of the CAG triplet in the gene that causes Huntington’s disease is not a problem. Inheriting 40 could be a sign that goes unnoticed for decades, until reaching 80. From there, the process accelerates and neural death occurs when reaching 150 repeats. Huntington’s disease neurodegeneration is not determined by what, but by how much, according to a study conducted at the Broad Institute.
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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

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.
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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.
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.
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