Phenotype News and Research

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Uncovering the hidden genetic connections behind COVID-19 and comorbidities

Researchers performed a protein diffusion network analysis using tissue-specific GRNs to identify predispositions to COVID-19.

21 Jun 2023

Could mutated blood cells hold the key to lower Alzheimer's risk?

Researchers tested whether clonal hematopoiesis of indeterminate potential (CHIP) status was associated with Alzheimer's disease.

19 Jun 2023

Analyzing the role of ACSL4 in quadruple negative breast cancer

A new review paper was published in Oncotarget's Volume 14 on June 12, 2023, entitled, "ACSL4: biomarker, mediator and target in quadruple negative breast cancer."

15 Jun 2023

Transgenic mouse model reveals surprising new connections between peripheral nerves and the heart

Oxidative stress – characterized by elevated levels of unstable molecules called reactive oxygen species– is associated with neurodegeneration and cardiovascular disease.

14 Jun 2023

Understanding the developmental link: vitamin D's role in metabolic disease risk

Study showed that transplanting fetal hematopoietic stem cells exposed to vitamin D deficiency induces diabetes.

14 Jun 2023

ACMG publishes updated recommendations for CFTR carrier screening

The American College of Medical Genetics and Genomics (ACMG) has released updated recommendations for CFTR carrier screening –Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics.

13 Jun 2023

AI system in eye scans enables better diagnosis of inherited retinal diseases

Inherited retinal diseases (IRDs), single-gene disorders affecting the retina, are very difficult to diagnose since they are uncommon and involve changes in one of many candidate genes.

9 Jun 2023

Study compares long-term consequences of COVID-19 between patients with rheumatic inflammatory diseases and healthy controls

Researchers used data from a long-term ongoing prospective cohort study in the Netherlands to compare the characteristics of long-COVID in inflammatory rheumatic diseases patients and healthy controls during the period when the SARS-CoV-2 Omicron subvariants, BA.1/BA.2 were dominant.

8 Jun 2023

Newborn genome sequencing project identifies unanticipated disease risks

Genomic sequencing of newborns reveals unanticipated genetic risks, prompting actionable medical interventions and potential life-saving care for infants and their families. This study highlights the value of comprehensive sequencing in newborns for early detection and management of genetic conditions.

7 Jun 2023

Study reveals surprising link between biological age and child development

Study explores the relationship between accelerated biological age in children, as indicated by telomere length and DNA methylation age, and various developmental outcomes. It aims to clarify the impact of accelerated biological age on growth, cognition, behavior, lung function, and puberty onset in European school-age children.

7 Jun 2023

MU biologist receives NIH grant to develop a better understanding of complex genetic traits

Driven by a lifelong curiosity about the natural world and the diversity of life, Elizabeth King, associate professor in the Division of Biological Sciences at the University of Missouri, found inspiration to spend her formative years studying science -; and along the way she discovered her passion for biology.

1 Jun 2023

MFAP5, a microfibril-associated protein, unveiled as key player in scar formation and wound healing

MFAP5, a microfibril-associated protein, plays a significant role in wound healing by regulating fibroblast function, collagen deposition, and angiogenesis, suggesting its potential as a modulator of scar formation.

1 Jun 2023

"Deep sequencing" of the genome informs diagnoses and treatment of vascular anomalies

Researchers from Children's Hospital of Philadelphia (CHOP) recently discovered that extremely thorough "deep sequencing" of the genome in tissue samples and cell-free DNA of patients with potentially life-threatening vascular anomalies captured several genetic variants related to disease that were not captured with conventional genetic sequencing methods.

1 Jun 2023

CardioGen upgrade facilitates more accurate diagnosis of monogenic cardiovascular diseases

Over 2,800 cases, representing a 31% increase, added to BGI Genomics-led CardioGen's hereditary cardiovascular disease gene data.

From BGI Genomics 1 Jun 2023

Multi-ethnic genome study unlocks new genetic links to health conditions

Research explores the genetic architecture of circulating metabolites, uncovering novel variant-metabolite associations and validating previous findings. It provides insights into the genetic contribution to metabolite levels and potential implications for human disease.

31 May 2023

A deeper look into axial spondyloarthritis: Prevalence, diagnosis, and treatment

There is a large diagnostic delay for people with axial spondyloarthritis (axSpA). In 2008, the SPACE cohort started to assess the prevalence of axSpA – and the reliability of an early diagnosis in people with chronic back pain (CBP).

31 May 2023

Lipid-degrading enzyme, fatty acid amide hydrolase is a predictor of long-term survival in patients with breast cancer

Scientists have identified a lipid-degrading enzyme as a prognostic biomarker for luminal breast cancer.

31 May 2023

The immunopathology of post-acute sequelae of SARS-CoV-2 infection: highlighting the knowledge gaps

The immunopathology of post-acute sequelae of SARS-CoV-2 infection (PASC).

31 May 2023

Using ex vivo gene therapy to fight obesity and diabetes in mice

A scientific team from the University of Barcelona and the CIBERobn has designed a strategy to fight obesity and diabetes in mice through ex vivo gene therapy which consists of implanting cells that have been manipulated and transformed in order to treat a disease.

30 May 2023

Mental health profoundly impacts inflammatory responses in the body

Study uncovered mechanisms by which psychological stress affects bowel inflammation.

30 May 2023

Phenotype News and Research

Uncovering the hidden genetic connections behind COVID-19 and comorbidities

Could mutated blood cells hold the key to lower Alzheimer's risk?

Analyzing the role of ACSL4 in quadruple negative breast cancer

Transgenic mouse model reveals surprising new connections between peripheral nerves and the heart

Understanding the developmental link: vitamin D's role in metabolic disease risk

ACMG publishes updated recommendations for CFTR carrier screening

AI system in eye scans enables better diagnosis of inherited retinal diseases

Study compares long-term consequences of COVID-19 between patients with rheumatic inflammatory diseases and healthy controls

Newborn genome sequencing project identifies unanticipated disease risks

Study reveals surprising link between biological age and child development

MU biologist receives NIH grant to develop a better understanding of complex genetic traits

MFAP5, a microfibril-associated protein, unveiled as key player in scar formation and wound healing

"Deep sequencing" of the genome informs diagnoses and treatment of vascular anomalies

CardioGen upgrade facilitates more accurate diagnosis of monogenic cardiovascular diseases

Multi-ethnic genome study unlocks new genetic links to health conditions

A deeper look into axial spondyloarthritis: Prevalence, diagnosis, and treatment

Lipid-degrading enzyme, fatty acid amide hydrolase is a predictor of long-term survival in patients with breast cancer

The immunopathology of post-acute sequelae of SARS-CoV-2 infection: highlighting the knowledge gaps

Using ex vivo gene therapy to fight obesity and diabetes in mice

Mental health profoundly impacts inflammatory responses in the body

Sensing a Healthier Future

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

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