Phenotype News and Research

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Autoimmunity-associated heart dilation linked with heart-failure risk in type 1 diabetes

People with type 1 diabetes, particularly those with poor glycemic control, are at markedly increased risk for cardiovascular disease than the general population.

6 Apr 2020

Analysis of causative protein genotype can help predict Alport syndrome severity

A Japanese research team has successfully developed a system to predict the severity of Alport syndrome, a serious hereditary kidney disease that occurs in about 1 out of 5,000 people in the US. Patients with Alport syndrome have abnormalities in the causative protein, type IV collagen, that often lead to chronic renal dysfunction requiring dialysis.

6 Apr 2020

Study proposes method to extend polygenic scores to individuals with mixed ancestry

A new study in Nature Communications proposes a method to extend polygenic scores, the estimate of genetic risk factors and a cornerstone of the personalized medicine revolution, to individuals with multiple ancestral origins.

2 Apr 2020

NCAM2 protein is a vital factor in the formation of cerebral cortex, neuronal morphogenesis

The molecule NCAM2, a glycoprotein from the superfamily of immunoglobulins, is a vital factor in the formation of the cerebral cortex, neuronal morphogenesis and formation of neuronal circuits in the brain, as stated in the new study published in the journal Cerebral Cortex.

13 Mar 2020

Combination of anti-cancer nanodrugs with Intralipid enhances therapeutic efficacy

Pairing chemotherapy nanodrugs with a nutritional supplement can lessen devastating side-effects while reducing the amount of the expensive drugs needed to treat cancer according to a study from Carnegie Mellon University and Taiwan's National Health Research Institutes.

10 Mar 2020

Biomarker in saliva linked to emergence of childhood obesity

A molecular marker in saliva is associated with the emergence of childhood obesity in a group of preschool-aged Hispanic children.

7 Mar 2020

Blocking immune T-cell regulator may help boost tumor killing, study shows

Immune system T-cells are more able to destroy skin cancer cells when a T-cell regulator called SLAMF6 is missing, a new study in eLife shows.

3 Mar 2020

Study contributes to better understanding of rare KAT6A syndrome

A research team has described five new cases of a rare disease -known as KAT6A syndrome- of which there are only eighty dominant cases worldwide.

26 Feb 2020

Lipid signaling from beta cells linked to inflammatory macrophage polarization

Do the insulin-producing beta cells in the pancreas unwittingly produce a signal that aids their own demise in Type 1 diabetes?

23 Feb 2020

Isolating Single T-cells of Interest using an Optofluidic Platform

Researchers are in desperate need of single-cell analysis techniques and those that allow the isolation of high-value T-cells for research and development.

From Bruker Cellular Analysis 21 Feb 2020

Language may be a promising biomarker for progression of Hungtinton's disease

Huntington's disease is a hereditary neurodegenerative disorder caused by a gene of chromosome 4 that affects a very important area of the brain, the striatum. People are born with the defective gene but symptoms do not appear until the age of 30 or 40.

20 Feb 2020

Scientists discover novel molecular pathway involved in immunotherapy response

Scientists at The Wistar Institute discovered a novel pathway that enables detection of DNA in the cytoplasm and triggers inflammation and cellular senescence.

20 Feb 2020

KAIST researchers identify mechanism that fuels a 'domino effect' in cancer drug resistance

KAIST researchers have identified mechanisms that relay prior acquired resistance to the first-line chemotherapy to the second-line targeted therapy, fueling a "domino effect" in cancer drug resistance.

11 Feb 2020

Interleukin-1-beta-induced chronic inflammation promotes lung cancer metastasis

The study reveals a detailed epigenetic mechanism for how interleukin-1-beta, a common cytokine that helps fight infections during inflammation, plays a critical role in cancer metastasis.

29 Jan 2020

Japanese researchers identify genetic variations related to specific dietary habits

Researchers at the RIKEN Center for Integrative Medical Sciences in Japan and colleagues at Osaka University have found genetic variations in humans related to specific dietary habits.

29 Jan 2020

Robotic search for drugs that block sperm motility

The hunt for the first male contraceptive pill is on, and scientists at Dundee University may have the needed tool to find it – a robotic screening system.

29 Jan 2020

Study uncovers molecular mechanism that triggers a rare type of muscular dystrophy

A study led by the IBB-UAB has identified the molecular mechanism through which a protein, when carrying genetic mutations associated with a rare disease known as limb-girdle muscular dystrophy, type 1G, accelerates its tendency to form amyloid fibrils and finally triggers the appearance of the disease.

29 Jan 2020

Holistic and data-driven health assessment can help achieve early disease detection

Human Longevity, Inc., an innovator in providing data-driven health intelligence and precision health to physicians and patients, announced today the publication of a ground-breaking study in the journal Proceedings of the National Academy of Sciences.

27 Jan 2020

Microbe screening and sorting device created by researchers

Researchers have made a device that could sour the waters of the seas for microbes and also detect which of these could develop antimicrobial resistance. This could quantify the threat they pose to the ecosystems. This portable device and the trial with it were reported in the latest issue of the journal Scientific Reports. The study was titled, “Electrical impedance as an indicator of microalgal cell health.”

27 Jan 2020

Study tracks milestones in the history of human disease genetics

Genetic discoveries over the past 25 years have substantially advanced understanding of both rare and common diseases, furthering the development of treatment and prevention for ailments ranging from inflammatory bowel diseases to diabetes, according to a study published in Nature Research in January.

27 Jan 2020

Phenotype News and Research

Autoimmunity-associated heart dilation linked with heart-failure risk in type 1 diabetes

Analysis of causative protein genotype can help predict Alport syndrome severity

Study proposes method to extend polygenic scores to individuals with mixed ancestry

NCAM2 protein is a vital factor in the formation of cerebral cortex, neuronal morphogenesis

Combination of anti-cancer nanodrugs with Intralipid enhances therapeutic efficacy

Biomarker in saliva linked to emergence of childhood obesity

Blocking immune T-cell regulator may help boost tumor killing, study shows

Study contributes to better understanding of rare KAT6A syndrome

Lipid signaling from beta cells linked to inflammatory macrophage polarization

Isolating Single T-cells of Interest using an Optofluidic Platform

Language may be a promising biomarker for progression of Hungtinton's disease

Scientists discover novel molecular pathway involved in immunotherapy response

KAIST researchers identify mechanism that fuels a 'domino effect' in cancer drug resistance

Interleukin-1-beta-induced chronic inflammation promotes lung cancer metastasis

Japanese researchers identify genetic variations related to specific dietary habits

Robotic search for drugs that block sperm motility

Study uncovers molecular mechanism that triggers a rare type of muscular dystrophy

Holistic and data-driven health assessment can help achieve early disease detection

Microbe screening and sorting device created by researchers

Study tracks milestones in the history of human disease genetics

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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