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Cutting corners results in rare genetic diseases being undiagnosed, say scientists

Cutting corners results in rare genetic diseases being undiagnosed, say scientists

byUniversity of ManchesterCommunity of practice-driven development. Credit:Nature Genetics(2024). DOI: 10.1038/s41588-024-01938-wInaccurate naming of genetic diseases is resulting in

Cutting corners results in rare genetic diseases being undiagnosed, say scientists

byUniversity of ManchesterCommunity of practice-driven development. Credit:Nature Genetics(2024). DOI: 10.1038/s41588-024-01938-wInaccurate naming of genetic diseases is resulting in
Study reveals molecular mechanism of genetic variant that causes mirror movement disorder

Study reveals molecular mechanism of genetic variant that causes mirror movement disorder

byUniversity of MontrealCredit: Pixabay/CC0 Public DomainA team of Canadian and American scientists has made a promising breakthrough in understanding the origins of a mysterious neurological di

Study reveals molecular mechanism of genetic variant that causes mirror movement disorder

byUniversity of MontrealCredit: Pixabay/CC0 Public DomainA team of Canadian and American scientists has made a promising breakthrough in understanding the origins of a mysterious neurological di
Study uncovers the role of polygenic risk scores in hypertension management

Study uncovers the role of polygenic risk scores in hypertension management

by Anna Jones,University of Alabama at BirminghamCredit: Pavel Danilyuk from PexelsPhysician-scientists from the University of Alabama at Birmingham Marnix E. Heersink School of Medicine have ne

Study uncovers the role of polygenic risk scores in hypertension management

by Anna Jones,University of Alabama at BirminghamCredit: Pavel Danilyuk from PexelsPhysician-scientists from the University of Alabama at Birmingham Marnix E. Heersink School of Medicine have ne
Study unveils new genetic syndrome linking brain development and neurodegeneration

Study unveils new genetic syndrome linking brain development and neurodegeneration

by Genomic PressStructural effects of a single frameshift homozygous nucleotide deletion in the SPAG9/JIP4 gene. Representation of the three-dimensional model in tapes. (A) Region of the SPAG9wt prote

Study unveils new genetic syndrome linking brain development and neurodegeneration

by Genomic PressStructural effects of a single frameshift homozygous nucleotide deletion in the SPAG9/JIP4 gene. Representation of the three-dimensional model in tapes. (A) Region of the SPAG9wt prote
AI promises to ramp up PCR tests for faster DNA diagnostics and forensics

AI promises to ramp up PCR tests for faster DNA diagnostics and forensics

byFlinders UniversityDiagrammatic explanation of the firefly algorithm used to suggest new PCR programs in this study. Credit:Genes(2024). DOI: 10.3390/genes15091199Promising new inr

AI promises to ramp up PCR tests for faster DNA diagnostics and forensics

byFlinders UniversityDiagrammatic explanation of the firefly algorithm used to suggest new PCR programs in this study. Credit:Genes(2024). DOI: 10.3390/genes15091199Promising new inr
Scientists uncover genetic cause of rare autoimmune disorder

Scientists uncover genetic cause of rare autoimmune disorder

by Olivia Dimmer,Northwestern UniversityCredit: Unsplash/CC0 Public DomainA team of international scientists has uncovered the genetic underpinnings of a rare, inherited autoimmune disorder, acc

Scientists uncover genetic cause of rare autoimmune disorder

by Olivia Dimmer,Northwestern UniversityCredit: Unsplash/CC0 Public DomainA team of international scientists has uncovered the genetic underpinnings of a rare, inherited autoimmune disorder, acc
How Birth Control Affects the Brain: Insights from Self-Scanning

How Birth Control Affects the Brain: Insights from Self-Scanning

For over 75 days, neuroscientist Carina Heller embarked on an extraordinary journey, becoming what she jokingly refers to as the “most-scanned woman in science.”

How Birth Control Affects the Brain: Insights from Self-Scanning

For over 75 days, neuroscientist Carina Heller embarked on an extraordinary journey, becoming what she jokingly refers to as the “most-scanned woman in science.”
Genome sequencing developed to trace COVID now protects babies in intensive care from infectious diseases

Genome sequencing developed to trace COVID now protects babies in intensive care from infectious diseases

by Rhys Thomas White, David Winter nd Suzanne Manning,The ConversationCredit: Unsplash/CC0 Public DomainAnyone who has spent time inside a neonatal intensive care unit (NICU) knows it's inte

Genome sequencing developed to trace COVID now protects babies in intensive care from infectious diseases

by Rhys Thomas White, David Winter nd Suzanne Manning,The ConversationCredit: Unsplash/CC0 Public DomainAnyone who has spent time inside a neonatal intensive care unit (NICU) knows it's inte
New AI tool predicts protein-protein interaction mutations in hundreds of diseases

New AI tool predicts protein-protein interaction mutations in hundreds of diseases

byCleveland ClinicCredit: CC0 Public DomainScientists from Cleveland Clinic and Cornell University have designed a publicly-available software and web database to break down barriers to identify

New AI tool predicts protein-protein interaction mutations in hundreds of diseases

byCleveland ClinicCredit: CC0 Public DomainScientists from Cleveland Clinic and Cornell University have designed a publicly-available software and web database to break down barriers to identify