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Study provides insights into genetic underpinnings of childhood epilepsies

Technological advances in genetic analysis have uncovered changes in single genes that account for a surprising number of infantile and early-childhood epilepsies. Though some of the affected genes have been identified, the physical manifestations of these alterations remain largely uncharacterized.

7 Dec 2014

Researchers reveal that genetic mutations may cause more cases of ALS

Genetic mutations may cause more cases of amyotrophic lateral sclerosis (ALS) than scientists previously had realized, according to researchers at Washington University School of Medicine in St. Louis and Cedars-Sinai Medical Center in Los Angeles. The scientists also showed that the number of mutated genes influences the age when the fatal paralyzing disorder first appears.

7 Dec 2014

Researchers explore how to turn on the activity of paternal gene

Most genes are inherited as two working copies, one from the mother and one from the father. However, in a few instances, a gene is imprinted, which means that one copy is silenced. This is called genomic imprinting. If the active copy is mutated, then disease results, even though the silenced gene copy may be normal.

2 Dec 2014

Alport syndrome: an interview with Dr Paul Grint, CMO, Regulus

Alport Syndrome was first described by a physician called Cecil Alport, back in the late 1920s. It's a genetic disease that affects a certain type of collagen involved in the functioning of the kidney, the ear, and the eye.

1 Dec 2014

Raising awareness of sickle cell disease risks

Members of the public in sub-Saharan Africa who are carriers of the hereditary disease sickle cell disease must be educated aggressively through public health campaigns to raise awareness of the risks of parenting offspring with the disease if their partner is also a carrier, according to research published in the International Journal of Medical Engineering and Informatics.

24 Nov 2014

Rare gene mutation linked to lower cholesterol levels, reduced risk of heart attack

Rare mutations that shut down a single gene are linked to lower cholesterol levels and a 50 percent reduction in the risk of heart attack, according to new research from Washington University School of Medicine in St. Louis, the Broad Institute at Massachusetts Institute of Technology and Harvard, and other institutions.

14 Nov 2014

Effecting changes to FosB gene could help control addiction, depression

Regulation of a single, specific gene in a brain region related to drug addiction and depression is sufficient to reduce drug and stress responses, according to a study conducted at the Icahn School of Medicine at Mount Sinai and published October 27 online in the journal Nature Neuroscience.

12 Nov 2014

Scientists develop human stem cell disease model of Parkinson's disease in a dish

A team of scientists led by The New York Stem Cell Foundation Research Institute successfully created a human stem cell disease model of Parkinson's disease in a dish. Studying a pair of identical (monozygotic) twins, one affected and one unaffected with Parkinson's disease, another unrelated Parkinson's patient, and four healthy control subjects, the scientists were able to observe key features of the disease in the laboratory, specifically differences in the patients' neurons' ability to produce dopamine, the molecule that is deficient in Parkinson's disease.

6 Nov 2014

Whole exome sequencing can assist in early diagnosis of various disorders

Approximately one-fourth of the 3,386 patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents, said researchers from the Baylor College of Medicine departments of molecular and human genetics and pediatrics and the Baylor Human Genome Sequencing Center and the University of Texas Health Science Center at Houston.

20 Oct 2014

Half-day educational program can help educate women on side effects of cancer prevention surgery

More women are having ovary-removing surgery as a cancer prevention measure, but many are often unaware of sexual or psychological side effects of the procedure. A new study by researchers at Dana-Farber Cancer Institute shows a half-day educational program can help successfully deal with these issues by educating women on how to address them.

16 Oct 2014

New research may help identify individuals at increased risk of pancreatic cancer

New research that provides a better understanding of pancreatic cancer may help identify individuals at increased risk. The findings are published early online in Cancer, a peer-reviewed journal of the American Cancer Society.

15 Oct 2014

Medical geneticists diagnose genetic syndromes, improve children’s quality of life

The genes children inherit determine everything from their height to their hair color. But sometimes, a child's genetic code also contains hidden abnormalities that can cause an array of health issues, such as developmental delays or physical or mental illness.

13 Oct 2014

Social status can impact health, happiness even among egalitarian forager-farmers

In western society, where keeping up with the Joneses — or, better yet, surpassing them — is expected and even encouraged, status matters. So important is it that for many people, physical and emotional wellbeing are directly connected to their place in the social hierarchy.

9 Oct 2014

New model predicts replication rate in genome-wide studies based on SNP characteristics

To reduce false positives when identifying genetic variations associated with human disease through genome-wide association studies (GWAS), Dartmouth researchers have identified nine traits that are not dependent on P values to predict single nucleotide polymorphisms (SNP) reproducibility as reported in Human Genetics on October 2, 2014.

9 Oct 2014

BRCA mutations carry risks for salivary gland cancer, breast cancer

The risk of developing cancer in a salivary gland might be higher in people with mutations in either of two genes associated with breast and ovarian cancer, according to a new study by researchers at The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute.

9 Oct 2014

Research finding could potentially lead to new strategies to improve cancer therapies

Cells are generally able to repair spontaneous damage that arises in their genetic material. Unfortunately, the DNA repair process is not perfect and sometimes, damaged DNA gets passed on to newly made cells. A team of researchers at the Center for Molecular Biology of Heidelberg University has recently discovered that in yeast cells, the amount of nutrients that cells are exposed to can affect DNA surveillance and repair mechanisms and therefore the quality of their DNA.

8 Oct 2014

Scientists identify genetic factors that influence height in individuals

An international collaboration of scientists has identified a fifth of the genetic factors that cause height to vary between individuals.

6 Oct 2014

Many fear lack of confidentiality and disclosure regarding genetic test's purpose

Genomic medicine is rapidly developing, bringing with its advances promises of individualized genetic information to tailor and optimize prevention and treatment interventions. Genetic tests are already guiding treatments of the human immunodeficiency virus (HIV) and hepatitis c virus (HPC), and emerging research is showing genetic variants may be used to screen for an individual's susceptibility to addiction to a substance, and even inform treatments for addiction.

24 Sep 2014

Scientists find 23 new genetic variants that increase risk for prostate cancer

In an analysis of genetic information among more than 87,000 men, a global team of scientists says it has found 23 new genetic variants - common differences in the genetic code -- that increase a man's risk for prostate cancer. The so-called "meta-analysis," believed to be the largest of its kind, has revealed once hidden mutations among men in a broad array of ethnic groups comprising men of European, African, Japanese and Latino ancestry.

18 Sep 2014

Reproductive cell division has mechanical safeguard against chromosome sorting errors

Reproductive cell division has evolved a simple, mechanical solution to avoid chromosome sorting errors, researchers report in the Sept. 11 Science Express.

17 Sep 2014

Inherit News and Research

Study provides insights into genetic underpinnings of childhood epilepsies

Researchers reveal that genetic mutations may cause more cases of ALS

Researchers explore how to turn on the activity of paternal gene

Alport syndrome: an interview with Dr Paul Grint, CMO, Regulus

Raising awareness of sickle cell disease risks

Rare gene mutation linked to lower cholesterol levels, reduced risk of heart attack

Effecting changes to FosB gene could help control addiction, depression

Scientists develop human stem cell disease model of Parkinson's disease in a dish

Whole exome sequencing can assist in early diagnosis of various disorders

Half-day educational program can help educate women on side effects of cancer prevention surgery

New research may help identify individuals at increased risk of pancreatic cancer

Medical geneticists diagnose genetic syndromes, improve children’s quality of life

Social status can impact health, happiness even among egalitarian forager-farmers

New model predicts replication rate in genome-wide studies based on SNP characteristics

BRCA mutations carry risks for salivary gland cancer, breast cancer

Research finding could potentially lead to new strategies to improve cancer therapies

Scientists identify genetic factors that influence height in individuals

Many fear lack of confidentiality and disclosure regarding genetic test's purpose

Scientists find 23 new genetic variants that increase risk for prostate cancer

Reproductive cell division has mechanical safeguard against chromosome sorting errors

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