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Researchers elucidate mechanisms underlying impaired ciliogenesis in PKD

In an article published online ahead of print on Feb. 19, 2015 in the Journal of Biological Chemistry, investigators at the Medical University of South Carolina and the Ralph H. Johnson VA Medical Center report findings from in vitro and in vivo studies that elucidate the mechanisms underlying the impaired ciliogenesis and abnormal kidney development characteristic of polycystic kidney disease (PKD).

21 Mar 2016

PERK inhibition can be a promising therapeutic strategy for neurodegenerative diseases

A major challenge in the field of neurodegeneration is the unclear understanding of neuronal dysfunction. Elucidation of these patho-mechanisms could result in the identification of novel therapeutic targets. In this article, Bell et al. present an exhaustive literature review highlighting the endoplasmic reticulum (ER) kinase PERK as a crucial contributor to systemic and neurodegenerative disorders.

20 Mar 2016

Russian scientists propose new technique to analyze intestinal metagenomes

A group of Russian scientists, among them staff at the Moscow Institute of Physics and Technology, have proposed a new method for the comparison of metagenome-coupled DNA sequences from all of the organisms in a sample of biological material being investigated.

11 Mar 2016

Scientists discover novel drug candidate to treat breast cancer, lung cancer and melanoma

Using a new approach, scientists at The Scripps Research Institute and collaborating institutions have discovered a novel drug candidate that could be used to treat certain types of breast cancer, lung cancer and melanoma.

10 Mar 2016

P53 genetic variant heavily implicated in metabolism, new research finds

The study may also provide an evolutionary explanation for differences in populations living farther away from the Equator. Human ancestors may have undergone this change in R72 to promote energy storage in cold climates and during times of famine. However, in modern society, the need for this type of variant in our genes is unnecessary, leading instead to increased risk for obesity and type 2 diabetes. Obesity is also a risk factor for certain types of cancer, so these findings may also explain why the R72 variant of p53 might predispose certain people to cancer.

4 Mar 2016

Study highlights use of 10x Genomics' GemCode technology platform for genomic analysis

10x Genomics, a company focused on improving and broadening the application of genomic information across healthcare and other industries, today announced the publication of a study that was enabled by the company's GemCode™ technology platform, a powerful new approach that allows researchers to discover previously inaccessible genomic information.

From 10x Genomics, Inc. 4 Mar 2016

Elevated levels of particular proteins in cancer cells fuel growth and spread of different cancers

Researchers at University of California, San Diego School of Medicine and Moores Cancer Center, with colleagues in Spain and Germany, have unraveled how elevated levels of particular proteins in cancer cells trigger hyperactivity in other proteins, fueling the growth and spread of a variety of cancers.

27 Feb 2016

Penn researchers develop new mathematical model to estimate mutation rates in the human genome

It turns out that the type, how frequent, and where new mutations occur in the human genome depends on which DNA building blocks are nearby, found researchers from the Perelman School of Medicine at the University of Pennsylvania in an advanced online study published this week in Nature Genetics.

22 Feb 2016

Neural gene promotes growth and spread of metastatic breast cancer

When breast cancer becomes advanced and spreads to other organs, patient survival is drastically reduced, prompting the need to explore the genes that may cause tumor cells to metastasize.

15 Feb 2016

Scientists propose use of mathematical models to find better treatment for bladder cancer

MIPT scientists together with their colleagues from St. Petersburg and Israel have analyzed more than 500 previously published scientific articles and proposed their own approach to the choice of methods used for the treatment of one of the most common cancers.

11 Feb 2016

Temple team describes use of cadaver DNA to advance genetics learning in medical curriculum

Cadavers have long been one of the most important resources for anatomy teaching in medical school. Now, they are also at the forefront of cutting-edge genetics teaching, thanks to innovative thinking by professors at the Lewis Katz School of Medicine at Temple University.

10 Feb 2016

UAB research explores neurofibromatosis type 1

It is easy to tell a medical research story that has a simple and dramatic moment. But disease is often much more complex, and the work to understand it can be painstaking. A vivid example of that is seen in the University of Alabama at Birmingham Medical Genomics Laboratory, headed by Ludwine Messiaen, Ph.D., professor of genetics. This lab offers clinical genetic testing for a broad array of common and rare genetic disorders.

3 Feb 2016

CNIO team uses network theory to build and study first epigenetic communication network

One of the big questions for which there is still no clear answer in biology is how, based on the four universal letters that make up DNA, it is possible to generate such different organisms as a fly or a human, or the different organs and tissues they comprise. In recent years, researchers have discovered that the system is much more complicated than was originally thought.

29 Jan 2016

CUMC, Iowa scientists use CRISPR to repair genetic mutation responsible for retinitis pigmentosa

Columbia University Medical Center and University of Iowa scientists have used a new gene-editing technology called CRISPR, to repair a genetic mutation responsible for retinitis pigmentosa (RP), an inherited condition that causes the retina to degrade and leads to blindness in at least 1.5 million cases worldwide.

28 Jan 2016

Novel drug shows promise against metastatic breast cancer in mouse models

12 Jan 2016

Small differences in specific genetic variant could alter nicotine consumption

Nicotine is an addictive substance and genetic factors are known to play a role in smoking behaviors. Recently, a team of researchers at Penn State and the University of Colorado determined how small differences in a particular region of the mouse genome can alter nicotine consumption.

11 Jan 2016

Researchers use dynamic time-series data to help improve accuracy of genome mapping

If you already have the sequenced map of an organism's genome but want to look for structural oddities in a sample, you can check the genomic barcode -- a series of distances between known, targeted sites -- by cutting a DNA sequence at those sites and examining the distance between the cuts.

30 Dec 2015

Zinc levels in breast milk may help identify breast-feeding problems

Zinc levels in breast milk may be able to serve as an indicator of breast function during lactation, according to Penn State health researchers.

23 Dec 2015

Novel drug shows promise in mouse models of human metastatic breast cancer

A doctor treating a patient with a potentially fatal metastatic breast tumor would be very pleased to find, after administering a round of treatment, that the primary tumor had undergone a change in character - from aggressive to static, and no longer shedding cells that can colonize distant organs of the body. Indeed, most patients with breast and other forms of cancer who succumb to the illness do so because of the cancer's unstoppable spread.