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New cell powerhouse sequencing technique may provide clearer picture of inherited disease risk

A new sequencing technique may provide a clearer picture of how genes in mitochondria, the "powerhouses" that turn sugar into energy in human cells, shape each person's inherited risk for diabetes, heart disease and cancer, according to a study conducted at the Icahn School of Medicine at Mount Sinai and published online this week in the journal Nucleic Acids Research.

5 Mar 2015

Researchers identify first genetic variation linked to increased risk of peripheral neuropathy

Researchers have identified the first genetic variation that is associated with increased risk and severity of peripheral neuropathy following treatment with a widely used anti-cancer drug. Investigators also found evidence of how it may be possible to protect young leukemia patients without jeopardizing cures.

24 Feb 2015

New facts provide baseline for future studies of epigenome's role in human development, diseases

While genomics is the study of all of the genes in a cell or organism, epigenomics is the study of all the genomic add-ons and changes that influence gene expression but aren't encoded in the DNA sequence. A variety of new epigenomic information is now available in a collection of studies published Feb. 19 in Nature by the National Institutes of Health Roadmap Epigenomics Program.

19 Feb 2015

New study finds promising target for future therapies to treat breast and ovarian cancer patients

The Food and Drug Administration's recent approval of the drug olaparib for ovarian cancer patients with inherited mutations in the genes BRCA1 or BRCA2 came as welcome news to the thousands of women now eligible to receive it. A new study by Dana-Farber Cancer Institute scientists indicates that the pool of patients who can benefit from the drug is potentially much wider - and offers a ready means of identifying them.

16 Feb 2015

Parents' lifestyles rather than their genes responsible for childhood obesity, shows study

Parents' lifestyles, rather than their genes, are primarily responsible for their children being overweight according to research by the Centre for Economic Performance, based at the London School of Economics and Political Science (LSE).

12 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

Study identifies genetic basis of drug toxicity in leukemia patients of East Asian ancestry

January 26, 2015) About 10 percent of young leukemia patients of East Asian ancestry inherit a gene variation that is associated with reduced tolerance of a drug that is indispensable for curing acute lymphoblastic leukemia (ALL), the most common childhood cancer.

2 Feb 2015

British scientists take major initiative to tackle Crohn's disease

British scientists are playing a key role in a global quest to find the causes of an incurable bowel condition.

15 Jan 2015

New nationwide effort seeks to find novel approaches to treat ASD, intellectual disability

Some of the genetic diseases that can cause autism spectrum disorder (ASD) and intellectual disability (ID) are so rare that even physicians who specialize in treating them can't be certain they have seen every possible symptom.

19 Dec 2014

New study shows that people may inherit intestinal bacteria that cause inflammatory bowel disease

A new study by an international team of researchers shows for the first time that people may inherit some of the intestinal bacteria that cause Crohn's disease and ulcerative colitis, collectively know as inflammatory bowel disease (IBD). The study, recently published in Genome Medicine, also confirmed that antibiotics could worsen the imbalance in the gut microbes.

16 Dec 2014

TGen uncovers way to track cause of neurological disorder in a young girl

Using a basic genetic difference between men and women, the Translational Genomics Research Institute has uncovered a way to track down the source of a neurological disorder in a young girl.

14 Dec 2014

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