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Medical research
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Extra fingers and hearts: Pinpointing changes to our genetic instructions that disrupt development

Extra fingers and hearts: Pinpointing changes to our genetic instructions that disrupt development

by Mario Aguilera,University of California - San DiegoChanging the instructions for development: Single-letter changes to genomes led to the formation of an extra digit (right). Credit: Fabian L

Extra fingers and hearts: Pinpointing changes to our genetic instructions that disrupt development

by Mario Aguilera,University of California - San DiegoChanging the instructions for development: Single-letter changes to genomes led to the formation of an extra digit (right). Credit: Fabian L
New insight into gene uncovers its link to incurable birth defect

New insight into gene uncovers its link to incurable birth defect

byWalter and Eliza Hall Institute of Medical Researchimage shows neurons and their connections to each other in red and yellow, and the cell's DNA in blue. WEHI researchers have, for the fir

New insight into gene uncovers its link to incurable birth defect

byWalter and Eliza Hall Institute of Medical Researchimage shows neurons and their connections to each other in red and yellow, and the cell's DNA in blue. WEHI researchers have, for the fir
New insights on kidney disease in African Americans could lead to therapies

New insights on kidney disease in African Americans could lead to therapies

by Sarah Avery,Duke UniversityCredit:Journal of Clinical Investigation(2024). DOI: 10.1172/JCI172262In a finding that could help reduce the racial disparity in kidney disease, Duke H

New insights on kidney disease in African Americans could lead to therapies

by Sarah Avery,Duke UniversityCredit:Journal of Clinical Investigation(2024). DOI: 10.1172/JCI172262In a finding that could help reduce the racial disparity in kidney disease, Duke H
Study with over 11,000 individuals of African descent finds genetic variants linked to glaucoma

Study with over 11,000 individuals of African descent finds genetic variants linked to glaucoma

byCell PressDiscovery of known and previously undescribed loci from the discovery mega-analysis of African ancestry individuals. Credit: Cell/Verma et al.Glaucoma is the leading cause of irrever

Study with over 11,000 individuals of African descent finds genetic variants linked to glaucoma

byCell PressDiscovery of known and previously undescribed loci from the discovery mega-analysis of African ancestry individuals. Credit: Cell/Verma et al.Glaucoma is the leading cause of irrever
Circuit-specific gene therapy brings new hope for treatment of Parkinson's disease

Circuit-specific gene therapy brings new hope for treatment of Parkinson's disease

byChinese Academy of SciencesRetrograde AAV selectively targets D1-MSNs and rescues parkinsonian symptoms with chemogenetic modulation. Credit: SIATResearchers from the Shenzhen Institute of Adv

Circuit-specific gene therapy brings new hope for treatment of Parkinson's disease

byChinese Academy of SciencesRetrograde AAV selectively targets D1-MSNs and rescues parkinsonian symptoms with chemogenetic modulation. Credit: SIATResearchers from the Shenzhen Institute of Adv
Large-scale study explores link between smoking and DNA changes across six racial and ethnic groups

Large-scale study explores link between smoking and DNA changes across six racial and ethnic groups

by Zara Abrams,Keck School of Medicine of USCCredit: CC0 Public DomainSmoking changes the way genes are expressed, which later contributes to the development of lung cancer and other smoking-rel

Large-scale study explores link between smoking and DNA changes across six racial and ethnic groups

by Zara Abrams,Keck School of Medicine of USCCredit: CC0 Public DomainSmoking changes the way genes are expressed, which later contributes to the development of lung cancer and other smoking-rel
Danish study could pave the way for better diagnosis of rare genetic diseases

Danish study could pave the way for better diagnosis of rare genetic diseases

byAarhus UniversityGraphical abstract. Credit:The American Journal of Human Genetics(2024). DOI: 10.1016/j.ajhg.2023.12.024There are over 7,000 different rare genetic diseases, and o

Danish study could pave the way for better diagnosis of rare genetic diseases

byAarhus UniversityGraphical abstract. Credit:The American Journal of Human Genetics(2024). DOI: 10.1016/j.ajhg.2023.12.024There are over 7,000 different rare genetic diseases, and o
Predicting neurodevelopmental disease in children from parents' traits

Predicting neurodevelopmental disease in children from parents' traits

by Sam Sholtis,Pennsylvania State UniversityNeurodevelopmental and psychiatric disorders, and the genes that can lead to them, vary in a population (left, brighter red colors represent more seve

Predicting neurodevelopmental disease in children from parents' traits

by Sam Sholtis,Pennsylvania State UniversityNeurodevelopmental and psychiatric disorders, and the genes that can lead to them, vary in a population (left, brighter red colors represent more seve
Zebrafish's eye muscles give hope for people with muscular dystrophy diseases

Zebrafish's eye muscles give hope for people with muscular dystrophy diseases

by Claes Björnberg,Umea UniversityAxon and NMJ integrity is partially rescued by overexpression of fhl2b in trunk muscle of 5 dpf dmd-/-zebrafish larvae. Credit: https://umu.diva-portal.or

Zebrafish's eye muscles give hope for people with muscular dystrophy diseases

by Claes Björnberg,Umea UniversityAxon and NMJ integrity is partially rescued by overexpression of fhl2b in trunk muscle of 5 dpf dmd-/-zebrafish larvae. Credit: https://umu.diva-portal.or
Meta-analysis of ACE inhibitor–induced angioedema identifies novel risk locus in genome

Meta-analysis of ACE inhibitor–induced angioedema identifies novel risk locus in genome

by Petra Sandow,University Hospital BonnManhattan plot of the metaEURanalysis. The −log10association P values (vertical axis) for all variants of the metaEURanalysis against th

Meta-analysis of ACE inhibitor–induced angioedema identifies novel risk locus in genome

by Petra Sandow,University Hospital BonnManhattan plot of the metaEURanalysis. The −log10association P values (vertical axis) for all variants of the metaEURanalysis against th
Insights into epigenetics: The humanized FKBP5 mouse as a model organism

Insights into epigenetics: The humanized FKBP5 mouse as a model organism

by Anke Schlee,Max Planck SocietySummary of study design and cohorts. Credit:Molecular Psychiatry(2024). DOI: 10.1038/s41380-024-02430-xThe candidate gene FKBP5 is involved in the de

Insights into epigenetics: The humanized FKBP5 mouse as a model organism

by Anke Schlee,Max Planck SocietySummary of study design and cohorts. Credit:Molecular Psychiatry(2024). DOI: 10.1038/s41380-024-02430-xThe candidate gene FKBP5 is involved in the de
Protein production glitches in Huntington's disease revealed

Protein production glitches in Huntington's disease revealed

by Shafaq Zia,Whitehead Institute for Biomedical ResearchRNAs with expanded CAG repeats (red) form regions of high concentration in the nucleus (blue) of a cell. Credit: Rachel Anderson/ Whitehe

Protein production glitches in Huntington's disease revealed

by Shafaq Zia,Whitehead Institute for Biomedical ResearchRNAs with expanded CAG repeats (red) form regions of high concentration in the nucleus (blue) of a cell. Credit: Rachel Anderson/ Whitehe