Gene Behind Hereditary Spastic Paraplegia Linked to Rare Plaque-Only Dementia
An international study of 726 patients links novel SPG4/SPAST mutations to a rare plaque-only form of early-onset dementia, expanding the ...
Tag: genetics
Giant Muscle Gene Titin Emerges as a Driver of Drug-Resistant Childhood Leukemia
A study of 152 Chinese children with acute lymphoblastic leukemia links mutations in the titin gene to prednisone resistance, poor ...
Medical Students Know the Genetics of Personalized Diabetes Care but Feel Unready to Use It
A survey of 352 Palestinian medical students found that while most understood the concepts of pharmacogenomics in diabetes care, fewer ...
Rare Neurological Diseases in Children Are Rising Worldwide, First Global Analysis Finds
The first global assessment of rare neurological diseases in children finds rising prevalence and disability from 1990 to 2021, declining ...
Rare ERBB2 Variants Expand the Genetic Picture of a Multisystem Congenital Disorder
A Lithuanian case report describes a boy with novel compound heterozygous ERBB2 variants, only the second family ever documented with ...
One Gene, Four Very Different Fates: Rare Wolfram Syndrome Cases Reveal Family Puzzle
A Palestinian family case series shows four girls with the same homozygous WFS1 mutation developing strikingly different Wolfram syndrome features, ...
Single Mutation, Many Faces: Study Maps Mitochondrial Disease in Chinese Children
A study of eleven Han Chinese children with the m.3243 A>G mitochondrial DNA mutation reveals striking phenotypic variability, a mean ...
Gabrielle Lévy: The Forgotten Neurologist Who Described a Hereditary Syndrome
A new historical account in the Journal of Neurology revisits the life and legacy of French neurologist Gabrielle Lévy, whose ...
Genes That Link Childhood Obesity to Asthma: A New Genetic Map Emerges
A new review in Pediatric Research maps the shared genetic architecture and biological mechanisms linking childhood obesity to a severe, ...
Genes, Environment and the Epigenome: Why the Nature-Nurture Debate Refuses to Die
A published exchange in Epigenetics Communications sees researchers Chiapperino and Paneni defend a biosocial vision of epigenetics against claims that ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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