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New study describes how gene-environment interaction leads to congenital heart defects

Infants of mothers with diabetes have a three- to five-fold increased risk of congenital heart defects. Such developmental defects are likely caused by a combination of genetic and environmental factors.

19 Oct 2017

UCSD researchers discover how mutant gene amplifies inflammation to fuel cancer

A human gene called p53, which is commonly known as the "guardian of the genome," is widely known to combat the formation and progression of tumors. Yet, mutant forms of p53 have been linked to more cases of human cancer than any other gene.

19 Oct 2017

New procedure expands options open for carrying out tests on human brain cells

Researchers at the University of Tübingen have become the first to keep human brain tissue alive outside the body for several weeks.

19 Oct 2017

Despite GOP efforts to corral Medicaid spending, states expand benefits

While congressional Republicans and President Donald Trump have been seeking major cuts in federal funding of Medicaid, 26 states this year expanded or enhanced benefits and at least 17 plan to do so next year, according to a report released Thursday.

19 Oct 2017

Researchers working towards developing computer model for predicting heart health

Picture this: you're battling heart failure and meeting with your doctor to discuss treatment. Before prescribing anything, the doctor pulls up a virtual model of your heart on her computer and "treats" it with several drugs. A few moments later, she can see how your heart is doing five years down the road.

17 Oct 2017

TGen project to develop standard operating procedures for single-cell RNA sequencing

The Translational Genomics Research Institute today announced grant support from the Chan Zuckerberg Initiative donor advised fund, an advised fund of the Silicon Valley Community Foundation, that will help revolutionize how researchers identify the genetic source of diseases and how best to treat each patient.

17 Oct 2017

Study uses precision medicine approach to find effective treatments for rare cancers

For the first time, researchers have been able to identify effective treatments for patients with rare cancers by analyzing genes and proteins in their blood and tumors. In a study reported in The Oncologist, half the patients receiving these targeted treatments saw their rare cancers either stabilize, shrink or go into remission.

17 Oct 2017

Researchers identify strategies to mitigate disturbed axonal transport in ALS patients

A team of researchers at VIB and KU Leuven used stem cell technology to generate motor neurons from ALS patients carrying mutations in FUS. They found disturbed axonal transport in these motor neurons, but also identified genetic and pharmacological strategies that mitigate this defect.

17 Oct 2017

Novel gene expression signature assay could help enhance lymphoma management

Diffuse large B-cell lymphoma (DLBCL) is an aggressive cancer and the most frequently diagnosed non-Hodgkin lymphoma worldwide (nearly 40% of cases). Recent advancements indicate that both the prognosis and choice of treatment of DLBCL may depend on identifying its molecular subtype.

17 Oct 2017

CHOP researchers discover key differences among gene fusions in childhood brain tumors

Researchers investigating pediatric low-grade gliomas, the most common type of brain tumor in children, have discovered key biological differences in how mutated genes combine with other genes to drive this childhood cancer.

17 Oct 2017

CHLA and Keck Medicine of USC develop new liquid biopsy for tumor of the retina

Retinoblastoma is a tumor of the retina that generally affects children under 5 years of age. If not diagnosed early, retinoblastoma may result in loss of one or both eyes and can be fatal. Unlike most cancers that are diagnosed using a biopsy, retinoblastoma tumors cannot be directly biopsied.

16 Oct 2017

Investigating new cancer therapy candidates with live-cell imaging

There are two main things that we've worked on in the lab as regards to drug studies. One is identifying new combinations of drugs, and working on why a combination of drugs should work better than each alone.

From Sartorius 16 Oct 2017

New study maps human genome to healthy tissue functions and disease processes

Our genomes help to determine who we are - the countless variations between individuals that encode the complexity of tissues and functions throughout the body.

13 Oct 2017

Cold Spring Harbor Laboratory Press releases new book on cancer evolution

Cold Spring Harbor Laboratory Press announced the release of Cancer Evolution, available on its website in hardcover and ebook formats.

12 Oct 2017

UC biologists find link between paternal diet and offspring’s health

Doctors long have stressed the importance of good nutrition for expectant mothers. Now biologists at the University of Cincinnati say the father's diet could play a similar role in the health of a baby.

12 Oct 2017

Whole genome sequencing could help better understand genetic abnormalities underlying autism

An analysis of the complete genomes of 2,064 people reveals that multiple genetic variations could contribute to autism. The work suggests that scanning whole genomes may one day be useful for clinical diagnostics.Autism has genetic roots, but most cases can't be explained by current genetic tests.

12 Oct 2017

Study documents gene mutation as cause of cancer form in the liver

There is no effective treatment for the cancer form found in the liver called fibrolamellar hepatocellular carcinoma, which is mainly found among children and young people.

12 Oct 2017

Scientists identify new type of diabetes caused by RFX6 gene mutation

Scientific research at the ULB Center for Diabetes Research and the Erasmus Hospital of the ULB leads to the identification of a new type of diabetes caused by a mutation in the gene RFX6.

12 Oct 2017

FDA approved drug found to have anti-cancer activity against previously unknown targets

Developing new drugs to treat cancer can be a painstaking process taking over a decade from start to Food and Drug Administration approval. Scientists are trying to develop innovative strategies to identify and test new drugs quicker and more efficiently.

10 Oct 2017

New insights into rare-among-rare genetic bone disorder

I have been writing about conditions that cause out-of-place bone formation for over 10 years – since the discovery of the gene in 2006 for the rare bone disorder, FOP (fibrodysplasia ossificans progressive). But it was while interviewing geneticist Eileen Shore, PhD last spring about another bone disorder, progressive osseous heteroplasia, or POH, that it really hit me how much more rare POH is compared to FOP.

10 Oct 2017

Mutation News and Research

New study describes how gene-environment interaction leads to congenital heart defects

UCSD researchers discover how mutant gene amplifies inflammation to fuel cancer

New procedure expands options open for carrying out tests on human brain cells

Despite GOP efforts to corral Medicaid spending, states expand benefits

Researchers working towards developing computer model for predicting heart health

TGen project to develop standard operating procedures for single-cell RNA sequencing

Study uses precision medicine approach to find effective treatments for rare cancers

Researchers identify strategies to mitigate disturbed axonal transport in ALS patients

Novel gene expression signature assay could help enhance lymphoma management

CHOP researchers discover key differences among gene fusions in childhood brain tumors

CHLA and Keck Medicine of USC develop new liquid biopsy for tumor of the retina

Investigating new cancer therapy candidates with live-cell imaging

New study maps human genome to healthy tissue functions and disease processes

Cold Spring Harbor Laboratory Press releases new book on cancer evolution

UC biologists find link between paternal diet and offspring’s health

Whole genome sequencing could help better understand genetic abnormalities underlying autism

Study documents gene mutation as cause of cancer form in the liver

Scientists identify new type of diabetes caused by RFX6 gene mutation

FDA approved drug found to have anti-cancer activity against previously unknown targets

New insights into rare-among-rare genetic bone disorder

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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