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Study may provide insights into treating autism and other neuropsychiatric disorders

Alterations in a naturally occurring chemical in the brain called serotonin have been linked to a number of neuropsychiatric disorders including depression, anxiety, obsessive-compulsive disorder as well as autism spectrum disorder (ASD).

20 Sep 2017

Risk factors, symptoms, diagnosis and treatment of ovarian cancer

Ovarian cancer is the 9th most common cancer in women and although it only accounts for approximately 3 percent of cancers in women, it is responsible for the most deaths of any cancer involving the female reproductive tract.

20 Sep 2017

UTSW receives $34 million CPRIT award for cancer research and faculty recruitment

The Cancer Prevention and Research Institute of Texas has awarded UT Southwestern researchers more than $34 million for cancer research and faculty recruitment, including support for programs in pancreatic cancer, lung cancer, breast cancer, and melanoma.

19 Sep 2017

Study reveals how cells from patients with developmental disease differ from healthy cells

By reprogramming skin cells into nerve cells, researchers at Karolinska Institutet are creating cell models of the human brain. In a new study published in Molecular Psychiatry the researchers describe how cells from patients with the severe developmental disease lissencephaly differ from healthy cells.

19 Sep 2017

Scientists take important step toward gene therapy for deaf patients

Scientists at Oregon State University have taken an important step toward gene therapy for deaf patients by developing a way to better study a large protein essential for hearing and finding a truncated version of it.

19 Sep 2017

UI scientists discover gene linked to fatal renal agenesis in children

A team led by University of Iowa researchers has identified a gene linked to rare, often fatal kidney-related birth defects.

18 Sep 2017

Researchers precisely describe effects of frequent genetic mutation in congenital hyperinsulinism

Diabetes is characterized by a deficiency of insulin. The opposite is the case in congenital hyperinsulinism: patients produce the hormone too frequently and in excessive quantities, even if they haven't eaten any carbohydrates.

18 Sep 2017

Myriad Genetics presents positive results of new hereditary cancer test at 36th annual conference of NSGC

Myriad Genetics, Inc., a leader in molecular diagnostics and personalized medicine, today announced that two important studies will be featured in podium presentations at the 36th annual conference of the National Society of Genetic Counselors in Columbus, OH.

18 Sep 2017

Study: Genomic profiling could help identify effective treatments for pediatric gliomas

The largest genomic profiling study ever conducted into a type of brain tumor known as glioma in children has identified genetic alterations in 96% of cases. As reported in The Oncologist, this genetic information could help to identify the most effective treatments for specific cases of glioma, hopefully improving the prognosis for what is currently the leading cause of death for children with cancer in the US.

18 Sep 2017

IMB researchers make breakthrough in understanding origin of aging process

Researchers at the Institute of Molecular Biology in Mainz, Germany, have made a breakthrough in understanding the origin of the aging process. They have identified that genes belonging to a process called autophagy - one of the cells most critical survival processes - promote health and fitness in young worms but drive the process of aging later in life.

15 Sep 2017

Simple blood test provides new treatment choices to lung cancer patients

A simple test which can detect gene mutations in tumour DNA from blood samples is giving new choices to lung cancer patients with faster diagnosis and improved access to life changing drugs.

15 Sep 2017

BWH researchers discover new genetic cause for photosensitive blood disorder

Researchers from BWH have uncovered a new genetic cause for erythropoietic protoporphyria (EPP), a photosensitive blood disorder. In the past, the most well-known causes for EPP were two specific genetic disorders, but using an extended pedigree from France, the investigators found that EPP can also be caused by changes in another gene.

14 Sep 2017

BWH researchers identify new rare genetic cause of peritoneal mesothelioma

Mesothelioma is a rare and aggressive tumor that, in many cases, results from exposure to asbestos. But over the last several decades, other causes of the disease have emerged, including treatment with high-intensity therapeutic radiation and, more recently, an inherited genetic mutation.

14 Sep 2017

Researchers find unique genetic mutation in 74-year-old man with Parkinson's disease

Mutations in the human genome may be responsible for many diseases. In the case of Parkinson's disease (PD), five locations have been the subject of recent attention. Variants of one of these locations, ACMSD (aminocarboxymuconate semialdehyde decarboxylase), may be implicated in PD, but until now, no mutations in ACMSD have been found in any PD patients.

14 Sep 2017

Immunotherapy could help some breast cancer patients based on genetic changes in their tumors

Immunotherapy drugs could help some breast cancer patients based on the genetic changes in their tumors, researchers at the Wellcome Trust Sanger Institute and their collaborators find.

13 Sep 2017

Epigenetic changes triggered by cigarette smoke may be earliest step in lung cancer development

Scientists at the Johns Hopkins Kimmel Cancer Center say they have preliminary evidence in laboratory-grown, human airway cells that a condensed form of cigarette smoke triggers so-called "epigenetic" changes in the cells consistent with the earliest steps toward lung cancer development.

12 Sep 2017

‘Nanoswitches’ could be key to faster, more sensitive tests for detection of biomarkers

Engineered strands of DNA -- nanoscale tools called "nanoswitches" -- could be the key to faster, easier, cheaper and more sensitive tests that can enable high-fidelity detection of biomarkers indicating the presence of different diseases, viral strains and even genetic variabilities as subtle as a single-gene mutation.

12 Sep 2017

Australian researchers make ultimate move in the battle against melanoma

A team of Australian researchers has made the ultimate move in the battle to beat melanoma, successfully trialing a combination of new treatments to stop the disease in its tracks and prevent it from spreading or metastasizing to distant organs.

12 Sep 2017

Researchers develop model to explore hard-to-study mutations in human genome

A team of researchers led by a bioinformatician at the University of California San Diego has developed a method to help determine whether certain hard-to-study mutations in the human genome, called short tandem repeats or microsatellites, are likely to be involved in harmful conditions.

11 Sep 2017

Study identifies late effects that may interfere with work status of young adult cancer survivors

Factors that limit the work ability of young adult cancer survivors are reported today at the ESMO 2017 Congress in Madrid.

11 Sep 2017

Mutation News and Research

Study may provide insights into treating autism and other neuropsychiatric disorders

Risk factors, symptoms, diagnosis and treatment of ovarian cancer

UTSW receives $34 million CPRIT award for cancer research and faculty recruitment

Study reveals how cells from patients with developmental disease differ from healthy cells

Scientists take important step toward gene therapy for deaf patients

UI scientists discover gene linked to fatal renal agenesis in children

Researchers precisely describe effects of frequent genetic mutation in congenital hyperinsulinism

Myriad Genetics presents positive results of new hereditary cancer test at 36th annual conference of NSGC

Study: Genomic profiling could help identify effective treatments for pediatric gliomas

IMB researchers make breakthrough in understanding origin of aging process

Simple blood test provides new treatment choices to lung cancer patients

BWH researchers discover new genetic cause for photosensitive blood disorder

BWH researchers identify new rare genetic cause of peritoneal mesothelioma

Researchers find unique genetic mutation in 74-year-old man with Parkinson's disease

Immunotherapy could help some breast cancer patients based on genetic changes in their tumors

Epigenetic changes triggered by cigarette smoke may be earliest step in lung cancer development

‘Nanoswitches’ could be key to faster, more sensitive tests for detection of biomarkers

Australian researchers make ultimate move in the battle against melanoma

Researchers develop model to explore hard-to-study mutations in human genome

Study identifies late effects that may interfere with work status of young adult cancer survivors

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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