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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
Researcher identifies key mechanism in Parkinson's disease

Researcher identifies key mechanism in Parkinson's disease

by Anna Zarra Aldrich,University of ConnecticutProper regulation of LRRK2 levels is important for Parkinson's disease (PD). ATIC, a purine biosynthesis pathway enzyme, and its substrate prec

Researcher identifies key mechanism in Parkinson's disease

by Anna Zarra Aldrich,University of ConnecticutProper regulation of LRRK2 levels is important for Parkinson's disease (PD). ATIC, a purine biosynthesis pathway enzyme, and its substrate prec
New technique for revealing genetic repeats yields surprising insights into Huntington's disease

New technique for revealing genetic repeats yields surprising insights into Huntington's disease

byRockefeller UniversityCredit:Neuron(2024). DOI: 10.1016/j.neuron.2023.12.009Neurodegenerative diseases are among the most complex human ailments, and their exact causes and mechani

New technique for revealing genetic repeats yields surprising insights into Huntington's disease

byRockefeller UniversityCredit:Neuron(2024). DOI: 10.1016/j.neuron.2023.12.009Neurodegenerative diseases are among the most complex human ailments, and their exact causes and mechani
Quest for personalized medicine hits a snag: Current models have limited effectiveness to predict treatments, says study

Quest for personalized medicine hits a snag: Current models have limited effectiveness to predict treatments, says study

JANUARY 11, 2024by Bill Hathaway,Yale UniversityCredit: Unsplash/CC0 Public DomainThe quest for personalized medicine, a medical approach in which practitioners use a patient's unique geneti

Quest for personalized medicine hits a snag: Current models have limited effectiveness to predict treatments, says study

JANUARY 11, 2024by Bill Hathaway,Yale UniversityCredit: Unsplash/CC0 Public DomainThe quest for personalized medicine, a medical approach in which practitioners use a patient's unique geneti
Study identifies epigenetic 'switches' that regulate the developmental trajectories of single cells

Study identifies epigenetic 'switches' that regulate the developmental trajectories of single cells

by Ingrid Fadelli , Medical XpressAnalysis of the developmental cell atlas. a, Workflow to obtain single-cell RNA (scRNA) expression and CUT&Tag data for three histone modifications (H3K27me3, H3K

Study identifies epigenetic 'switches' that regulate the developmental trajectories of single cells

by Ingrid Fadelli , Medical XpressAnalysis of the developmental cell atlas. a, Workflow to obtain single-cell RNA (scRNA) expression and CUT&Tag data for three histone modifications (H3K27me3, H3K
Engineered platelets can induce anti-inflammatory, immunosuppressive response, finds scientist

Engineered platelets can induce anti-inflammatory, immunosuppressive response, finds scientist

by Marlene Leung,St. Michael's HospitalCredit: Pixabay/CC0 Public DomainNew research led by a St. Michael's Hospital scientist reveals how platelets can inhibit inflammation and immune r

Engineered platelets can induce anti-inflammatory, immunosuppressive response, finds scientist

by Marlene Leung,St. Michael's HospitalCredit: Pixabay/CC0 Public DomainNew research led by a St. Michael's Hospital scientist reveals how platelets can inhibit inflammation and immune r
Ehrapy: A new open-source tool for analyzing complex health data

Ehrapy: A new open-source tool for analyzing complex health data

byHelmholtz Association of German Research CentresLogo ehrapy. Credit: Meshal AnsariLed by Helmholtz Munich, scientists have developed an accessible software solution specifically designed for t

Ehrapy: A new open-source tool for analyzing complex health data

byHelmholtz Association of German Research CentresLogo ehrapy. Credit: Meshal AnsariLed by Helmholtz Munich, scientists have developed an accessible software solution specifically designed for t
Bridging diet, microbes, and metabolism: Implications for metabolic disorders

Bridging diet, microbes, and metabolism: Implications for metabolic disorders

FEBRUARY 20, 2024byBoyce Thompson InstituteTransgenic animals expressing a green fluorescent protein attached to the fatty acid desaturase, FAT-7. Green color represents the induction of FAT-7 i

Bridging diet, microbes, and metabolism: Implications for metabolic disorders

FEBRUARY 20, 2024byBoyce Thompson InstituteTransgenic animals expressing a green fluorescent protein attached to the fatty acid desaturase, FAT-7. Green color represents the induction of FAT-7 i
Rapid drug test to provide patients with better care

Rapid drug test to provide patients with better care

byWalter and Eliza Hall Institute of Medical ResearchMass spectroscopy chromatogram: (a) patient plasma with enzalutamide peak with extracted ion chromatogram adduct (465 m/z); (b) in the same p

Rapid drug test to provide patients with better care

byWalter and Eliza Hall Institute of Medical ResearchMass spectroscopy chromatogram: (a) patient plasma with enzalutamide peak with extracted ion chromatogram adduct (465 m/z); (b) in the same p
Researchers discover a potential cause of Parkinson's disease

Researchers discover a potential cause of Parkinson's disease

MAY 5, 2023byUniversity of HelsinkiAggregation of alpha-synuclein in a nerve cell. Credit: Timo Myöhänen research groupThere are currently 8 million patients with Parkinson's disease in the

Researchers discover a potential cause of Parkinson's disease

MAY 5, 2023byUniversity of HelsinkiAggregation of alpha-synuclein in a nerve cell. Credit: Timo Myöhänen research groupThere are currently 8 million patients with Parkinson's disease in the