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Researchers identify common genetic signature among three rare skin diseases

A group of researchers lead by a lecturer from the Universidad Carlos III de Madrid, Marcela del Río, from the CIEMAT, the Rare Diseases Networking Biomedical Research Centre and Fundación Jiménez Díaz has identified a common genetic signature among three rare skin diseases or genodermatoses: recessive dystrophic epidermolysis bullosa, Kindler syndrome and xeroderma pigmentosum.

5 Mar 2019

Genomics could guide treatment for pancreatic cancer patients

Pancreatic cancer is a grim diagnosis, with a five-year survival rate of less than 9 percent. To improve those odds, researchers at UPMC and the University of Pittsburgh School of Medicine sought genetic signatures in the largest study of its kind that could be used to better match drugs to patients and for early detection.

5 Mar 2019

Researchers identify first genetic defect linked to biliary atresia

A nationwide consortium of researchers has identified the first genetic defect linked to biliary atresia, a mysterious liver disease that is the leading cause for liver transplantation in children.

5 Mar 2019

Research on mosaic embryos gives new hope to people seeking infertility treatments

Not every embryo contains 46 perfect chromosomes. Some have more, others have fewer. The result is a common abnormality known as aneuploidy, which occurs in as many as 80 percent of human embryos.

5 Mar 2019

New combinational drug therapy may effectively combat pancreatic cancer

Even among cancers, pancreatic cancer is an especially sinister form of disease. The one-year survival rate is extremely low, and treatment progress has lagged behind that of many other malignancies.

5 Mar 2019

Researchers create 3D vascularized proximal tubule model to study renal reabsorption

Every day our kidneys tackle the daunting task of continuously cleaning our blood to prevent waste, salt and excess fluid from building up inside our bodies.

5 Mar 2019

New clinical genomic testing helps identify mutations that drive childhood melanoma

Comprehensive clinical genomic testing of an adolescent patient, including whole genome sequencing, helped researchers identify mutations in a single gene that drive the most common childhood melanoma.

5 Mar 2019

Microbes causing cystic fibrosis change rapidly within 2-3 years after first infection

A new study, recently published in Nature Communications, has looked at infections in Danish youth with CF over a period of 10 years. This is the largest longitudinal study to date of the evolution - both involving traits and genes - of the disease-causing microbes that persistently infect young CF-patients.

5 Mar 2019

World-first fact-checking program tackles problem of incorrect biomedical research results

Cancer researcher Professor Jennifer Byrne from the University of Sydney is hoping to change this with the creation of a world-first fact-checking program that is tackling the problem of incorrectly published biomedical research results, whether intentional or otherwise.

5 Mar 2019

Researchers find how common oral bacteria accelerates growth of colon cancer

Researchers at the Columbia University College of Dental Medicine have determined how F. nucleatum -- a common oral bacteria often implicated in tooth decay -- accelerates the growth of colon cancer. The study was published online in the journal EMBO Reports.

4 Mar 2019

Increasing parent's lifespan improves fitness of offspring

Genetic manipulation that more than doubles lifespan also leads to better offspring - according to new collaborative research from the University of East Anglia and Uppsala University.

4 Mar 2019

Causes of disease including infant cancer can be revealed with new tool from Princeton University research team

Machine learning is being used to gain insight into the causes of hundreds of diseases, with Princeton University researchers discovering four specific genes that contribute to infant cancer.

4 Mar 2019

Using TGS technology to make the perfect match even better for stem cell transplant recipients

At Anthony Nolan we save the lives of people with blood cancers and blood disorders that need a stem cell transplant.

4 Mar 2019

Researchers study the adaptive processes of fruit flies in a controlled laboratory setting

Not just since climate change has it been of enormous interest to understand how populations adapt to new environmental conditions.

4 Mar 2019

Estrogen can affect surrounding brain cells to promote triple-negative breast cancer metastasis

Triple-negative breast cancers are more likely than other breast cancer types to metastasize and are especially likely to go the brain in younger women. Researchers have tested various hypotheses to explain this danger.

2 Mar 2019

Newly developed bioluminescence sensors pave way for drug discovery

Canadian researchers, working in partnership with Brazilian colleagues, have developed 13 bioluminescence sensors for use in testing the effectiveness of new medical drugs in the laboratory.

2 Mar 2019

New approach to tackling chronic inflammatory diseases

An EU-funded project has developed new approaches to tackling chronic inflammatory diseases. These will be used to create precise and individualized treatment options, potentially leading to faster diagnosis, more effective treatments and even cures.

1 Mar 2019

Many genes contribute to risk for Tourette's syndrome, genetic study shows

A meta-analysis of multiple studies into the genetic background of Tourette's syndrome (TS) - a neurodevelopmental disorder characterized by chronic involuntary motor and vocal tics - finds that variants in hundreds of genes, working in combination, contribute to the development of the syndrome and suggests that Tourette's is part of a continuous spectrum of tic disorders, ranging from mild, sometimes transient tics to severe cases that can include psychiatric symptoms.

1 Mar 2019

New multi-year affiliation announced to establish global center for rare diseases

The University of Oxford and University Hospitals in Cleveland, Ohio, today announced a multi-year affiliation to establish a global center for rare diseases.

1 Mar 2019

Research shows how common fungus gets the flexibility to live in different host environments

The fungus Candida albicans is found in the gastrointestinal tract of about half of healthy adults with little if any effect, yet it also causes an oft-fatal blood infection among patients with compromised immune systems, including those with HIV/AIDS.

1 Mar 2019

Genetic News and Research

Researchers identify common genetic signature among three rare skin diseases

Genomics could guide treatment for pancreatic cancer patients

Researchers identify first genetic defect linked to biliary atresia

Research on mosaic embryos gives new hope to people seeking infertility treatments

New combinational drug therapy may effectively combat pancreatic cancer

Researchers create 3D vascularized proximal tubule model to study renal reabsorption

New clinical genomic testing helps identify mutations that drive childhood melanoma

Microbes causing cystic fibrosis change rapidly within 2-3 years after first infection

World-first fact-checking program tackles problem of incorrect biomedical research results

Researchers find how common oral bacteria accelerates growth of colon cancer

Increasing parent's lifespan improves fitness of offspring

Causes of disease including infant cancer can be revealed with new tool from Princeton University research team

Using TGS technology to make the perfect match even better for stem cell transplant recipients

Researchers study the adaptive processes of fruit flies in a controlled laboratory setting

Estrogen can affect surrounding brain cells to promote triple-negative breast cancer metastasis

Newly developed bioluminescence sensors pave way for drug discovery

New approach to tackling chronic inflammatory diseases

Many genes contribute to risk for Tourette's syndrome, genetic study shows

New multi-year affiliation announced to establish global center for rare diseases

Research shows how common fungus gets the flexibility to live in different host environments

Sequencing & Genomics: Elevating Science and Healthcare eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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