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DNA, or deoxyribonucleic acid, is the hereditary material in humans and almost all other organisms. Nearly every cell in a person’s body has the same DNA. Most DNA is located in the cell nucleus (where it is called nuclear DNA), but a small amount of DNA can also be found in the mitochondria (where it is called mitochondrial DNA or mtDNA).

Cell free DNA analysis less effective than sequential screening in finding fetal chromosomal abnormalities

In a study to be presented on Feb. 5 in an oral plenary session at 8 a.m. PST, at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting, in San Diego, researchers will report that cell free DNA analysis is less effective than sequential screening as primary testing for fetal chromosomal abnormalities.

5 Feb 2015

Alzheimer's brains commonly have many neurons with more DNA and genomic copies of APP gene

Scientists at The Scripps Research Institute have found diverse genomic changes in single neurons from the brains of Alzheimer's patients, pointing to an unexpected factor that may underpin the most common form of the disease.

5 Feb 2015

Johns Hopkins researchers reveal that e-cigarettes weaken immune system

In a study with mice, Johns Hopkins Bloomberg School of Public Health researchers have found that e-cigarettes compromise the immune system in the lungs and generate some of the same potentially dangerous chemicals found in traditional nicotine cigarettes.

5 Feb 2015

Johns Hopkins researchers successfully deliver new nanoparticle gene therapy to treat glioma in rats

Despite improvements in the past few decades with surgery, chemotherapy and radiation therapy, a predictably curative treatment for glioma does not yet exist. New insights into specific gene mutations that arise in this often deadly form of brain cancer have pointed to the potential of gene therapy, but it's very difficult to effectively deliver toxic or missing genes to cancer cells in the brain.

5 Feb 2015

Genomics of papillary thyroid carcinoma (PTC): an interview with Professor Thomas J. Giordano

There are two types of thyroid cells and therefore there are two broad types of thyroid cancer. Medullary carcinoma is derived from parafollicular or C cells, whereas follicular cells give rise to several types of thyroid cancers.

4 Feb 2015

FDA accepts Sangamo BioSciences' IND for SB-BCLmR-HSPC genome editing approach

Sangamo BioSciences, Inc. announced today that an Investigational New Drug (IND) application for the company's SB-BCLmR-HSPC genome editing approach, which is designed to provide a one-time lasting therapy for beta-thalassemia, has been accepted by the U.S. Food and Drug Administration and is now active.

4 Feb 2015

Parents can pass silenced genes to offspring through a specific mechanism

For more than a century, scientists have understood the basics of inheritance: if good genes help parents survive and reproduce, the parents pass those genes along to their offspring. And yet, recent research has shown that reality is much more complex: genes can be switched off, or silenced, in response to the environment or other factors, and sometimes these changes can be passed from one generation to the next.

4 Feb 2015

Variants in fetus's DNA may trigger some early births

Some babies seem to have a genetic predisposition to a higher risk of being born too soon, according to researchers in a study to be presented on Feb. 5 in an oral concurrent session at 8 a.m. PST, at the Society for Maternal-Fetal Medicine's annual meeting in San Diego.

4 Feb 2015

TMM journal reviews latest advances in reproductive medicine

The journal Trends in Molecular Medicine reviews the latest advances in reproductive medicine--from mitochondrial replacement therapy to the infant microbiome--with a special issue on "Nurturing the Next Generation," published February 3, 2015.

4 Feb 2015

Study demonstrates therapeutic potential of new class of synthetic oligonucleotides for DMD treatment

Research efforts associating scientists from the CNRS, UVSQ and INSERM within the Laboratoire END-ICAP, working in collaboration with a team from the University of Bern, has demonstrated the therapeutic potential of a new class of synthetic oligonucleotides in the treatment of Duchenne muscular dystrophy (DMD) using RNA "surgery".

4 Feb 2015

New study sheds light on syndrome linked to aggressive pediatric cancer

A new study involving researchers at The University of Nottingham has revealed how children with an aggressive cancer predisposition syndrome experience a never before seen flood of mutations in their disease in just six months.

4 Feb 2015

Scientists find eight different types of schizophrenia

Scientists from the universities of Granada (Spain) and Washington in St Louis (US) have found that there is not a single type of schizophrenia, but that it consists of a group made up of eight genetically different types of diseases, each of which presents its own set of symptoms.

4 Feb 2015

Whole exome sequencing helps Mayo Clinic neurologist solve a medical mystery

Precision medicine is getting a jump-start from a new national initiative announced in President Obama's State of the Union message. One Georgia family has already experienced its benefits: genomic testing called whole exome sequencing helped Mayo Clinic neurologist Zbigniew Wszolek, M.D., solve a medical mystery that had left a boy with painful, jerking spasms that at times prevented him from walking or talking.

4 Feb 2015

Cell-free fetal DNA testing more effective in detecting Down syndrome

Cell-free fetal DNA testing, which measures the relative amount of free fetal DNA in a pregnant woman's blood, is a new screening test that indicates the risk of Down syndrome (trisomy 21), Edward syndrome (trisomy 18), and Patau syndrome (trisomy 13).

3 Feb 2015

Bern researchers develop active substance for treating Duchenne muscular dystrophy

Duchenne muscular dystrophy is a congenital disease which causes muscle degeneration and eventual death in teenagers. Recently, researchers from Bern developed an active substance, which they together with an international team tested successfully.

3 Feb 2015

Researchers reveal new pathway for inhibiting growth of tumor cells tied to BRCA mutations

Inhibiting the action of a particular enzyme dramatically slows the growth of tumor cells tied to BRCA1 and BRCA2 genetic mutations which, in turn, are closely tied to breast and ovarian cancers, according to researchers at NYU Langone Medical Center.

3 Feb 2015

International researchers discover gene that causes familial scoliosis

The discovery of the first gene causing familial scoliosis was announced by an international France-Canada research team today. "Mystery surrounds the cause of scoliosis, which is a three dimensional deformation of the vertebral column. Many researchers have been attempting to uncover the origins of this disease, particularly from a genetic point of view," explained leading co-author Dr Florina Moldovan of the University of Montreal and the CHU Sainte Justine research hospital.

3 Feb 2015

New study examines the methylome of triple-negative breast cancer

The new study, published in Nature Communications, compares the breast cancer DNA 'methylome' with that of healthy individuals. The methylome provides a new picture of the genome and shows how it is epigenetically 'decorated' with methyl groups, a process known as DNA 'methylation'.

3 Feb 2015

Children's Hospital of Philadelphia invited to Obama's announcement of Precision Medicine Initiative

At the invitation of the White House, The Children's Hospital of Philadelphia (CHOP) sent two special guests to President Barack Obama's announcement today of the Precision Medicine Initiative: Dr. Steven M. Altschuler, CHOP's chief executive officer, and 9-year-old patient Emily Whitehead, now cancer-free thanks to a personalized treatment called T cell therapy, developed at CHOP.

2 Feb 2015

Study provides common model of cellular ageing

Researchers at the BBSRC-supported Babraham Institute have mapped the physical structure of the nuclear landscape in unprecedented detail to understand changes in genomic interactions occurring in cell senescence and ageing. Their findings have allowed them to reconcile the contradictory observations of two current models of ageing: cellular senescence of connective tissue cells called fibroblasts and cellular models of an accelerated ageing syndrome.

2 Feb 2015