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Novel spoken-language intervention could benefit children, adolescents with developmental disabilities

Sean Sawicki, who has fragile X syndrome, can be hard to understand and doesn't always have the attention span to carry on a sustained conversation. But a novel intervention developed by UC Davis MIND Institute researchers seems to be making a difference.

28 Apr 2016

Experimental cancer drug Nutlin-3 shows promise in cancelling effects of fragile X syndrome

A University of Wisconsin-Madison researcher who studies the most common genetic intellectual disability has used an experimental drug to reverse — in mice — damage from the mutation that causes the syndrome.

28 Apr 2016

HBcrAg may predict HCC development

Research suggests a role for hepatitis B core-related antigen in the prediction of hepatocellular carcinoma development in nucleos(t)ide analogue treatment-naïve patients with chronic hepatitis B virus infection.

27 Apr 2016

TSRI study reveals important traits in LCMV, Lassa virus

For the first time, scientists at The Scripps Research Institute (TSRI) have solved the structure of the biological machinery used by a common virus to recognize and attack human host cells.

27 Apr 2016

Modernization of screening methods in sperm banks could protect future children from highly heritable diseases

U.S. sperm banks perform genetic testing to screen for and disqualify carriers of a limited number of recessive disease mutations, but more comprehensive and affordable DNA-based screening methods are now available that can detect many more disease-causing genetic variations.

27 Apr 2016

Rapamycin drug could target neural damage linked to Leigh syndrome

Salk Institute scientists showed how an FDA-approved drug boosts the health of brain cells by limiting their energy use. Like removing unnecessary lighting from a financially strapped household to save on electricity bills, the drug--called rapamycin--prolongs the survival of diseased neurons by forcing them to reduce protein production to conserve cellular energy.

27 Apr 2016

Study reveals new function for CACNA1C gene in psychiatric diseases

A new study shows the death of newborn brain cells may be linked to a genetic risk factor for five major psychiatric diseases, and at the same time shows a compound currently being developed for use in humans may have therapeutic value for these diseases by preventing the cells from dying.

27 Apr 2016

New fruit fly model study reveals metabolic pathway that can be targeted to treat FXS patients

Fragile X syndrome (FXS) is the most common genetically inherited cause of intellectual disability in humans. New research shows how the hormone insulin -- usually associated with diabetes -- is involved in the daily activity patterns and cognitive deficits in the fruitfly model of FXS, according to a new study from the Perelman School of Medicine at the University of Pennsylvania published online this month in Molecular Psychiatry in advance of the print issue.

27 Apr 2016

First small molecule targeted therapy holds promise for Usher syndrome

Usher syndrome (USH) is characterized by hearing loss or deafness at birth and progressive vision loss, and is the most common cause of inherited dual sensory deficit. No treatment is currently available to stop or slow the progression of vision or hearing loss in USH3, one of three clinical classifications for USH that are further divided into subtypes and all associated with different genes.

27 Apr 2016

Same genetic changes responsible for gastrointestinal problems in children with autism

Researchers at Columbia University Medical Center have found evidence in mice that, for some types of autism, gastrointestinal difficulties may originate from the same genetic changes that lead to the behavioral and social characteristics of the condition. The study was published in the Journal of Clinical Investigation.

26 Apr 2016

Changes in chromatin structure may promote cancer

Cancer development is a complex process involving both genetic and epigenetic changes. Genetic changes in oncogenes and tumor-suppressor genes are generally considered as primary causes, since these genes may directly regulate cellular growth. In addition, it has been found that changes in epigenetic factors, through mutation or altered gene expression, may contribute to cancer development.

26 Apr 2016

MALT1 inhibitors may be useful for treating psoriasis patients with CARD14 mutations

Psoriasis is a long-lasting autoimmune disease that is characterized by patches of abnormal and inflamed skin. It is generally thought to have a genetic origin, which can be further triggered by environmental factors. People with specific mutations in the CARD14 gene have a high probability of developing psoriasis.

25 Apr 2016

Under-expressed miR-9 gene may contribute to schizophrenia risk

By turning skin cells into brain neurons, researchers at the Icahn School of Medicine at Mount Sinai have identified that certain tiny molecules aiding in gene expression, known as microRNAs (miRNAs), are under-expressed in the brains of the 14 schizophrenia patients they studied. Their findings, published online today in the journal Cell Reports, show that one of these molecules, a miRNA known as miR-9, is a risk factor that controls the activity of hundreds of genes.

22 Apr 2016

Unique mouse model could help study genetic origins and potential treatments for ALS

University of Florida Health researchers have developed a unique mouse model that will allow researchers around the world to better study the genetic origins and potential treatments for a neurodegenerative brain disease that causes amyotrophic lateral sclerosis, often referred to as ALS or Lou Gehrig's disease, and frontotemporal dementia.

22 Apr 2016

Disorders in PIGG gene can cause intellectual disability with seizures and hypotonia

A research group led by Osaka University and collaborative institutions discovered that disorders in the same gene PIGG are the cause for intellectual disability with seizures and hypotonia. PIGG is one of the enzymes active in the GPI anchor glycolipid synthesis and the current study revealed its significance in the development of the cerebral nervous system.

22 Apr 2016

CUMC researchers identify new neurodevelopmental syndrome

A multicenter research team led by Columbia University Medical Center has discovered a new neurodevelopmental syndrome and the genetic mutations that cause it. The discovery is an important step toward creating targeted therapies for individuals with this syndrome, which causes severe developmental delays, abnormal muscle tone, seizures, and eye complications.

22 Apr 2016

Scientists identify genetic mechanisms behind development of myopia

Myopia, also known as short-sightedness or near-sightedness, is the most common disorder affecting the eyesight and it is on the increase. The causes are both genetic and environmental.

22 Apr 2016

GSK3β inhibition may be potential therapeutic strategy for treating ACM

Arrhythmogenic cardiomyopathy (ACM) is an inherited heart disease that results from mutations in genes that encode components of the cardiac desmosome, which forms the junction between cardiac muscle and the epithelium. Patients with ACM have an increased risk of sudden death due to the breakdown of the muscle wall of the heart with age.

22 Apr 2016

Subtle changes in protein-coding gene may cause different genetic disorders

It has been disorienting to the scientific and medical community as to why different subtle changes in a protein-coding gene causes many different genetic disorders in different patients -- including premature aging, nerve problems, heart problems and muscle problems. no other gene works like this. According to a new study, co-authored by Binghamton University faculty Eric Hoffman, it has to do with cell "commitment."

22 Apr 2016

Researchers determine 3-D structure of RlmN protein from bacteria

The structure of a bacterial RNA-binding protein has been determined in the act of modifying a molecule of RNA -- an achievement that provides researchers with a unique view of the protein's function in action and could lead to clues that would help in the fight against the development of antibiotic-resistant infections.

22 Apr 2016

Mutation News and Research

Novel spoken-language intervention could benefit children, adolescents with developmental disabilities

Experimental cancer drug Nutlin-3 shows promise in cancelling effects of fragile X syndrome

HBcrAg may predict HCC development

TSRI study reveals important traits in LCMV, Lassa virus

Modernization of screening methods in sperm banks could protect future children from highly heritable diseases

Rapamycin drug could target neural damage linked to Leigh syndrome

Study reveals new function for CACNA1C gene in psychiatric diseases

New fruit fly model study reveals metabolic pathway that can be targeted to treat FXS patients

First small molecule targeted therapy holds promise for Usher syndrome

Same genetic changes responsible for gastrointestinal problems in children with autism

Changes in chromatin structure may promote cancer

MALT1 inhibitors may be useful for treating psoriasis patients with CARD14 mutations

Under-expressed miR-9 gene may contribute to schizophrenia risk

Unique mouse model could help study genetic origins and potential treatments for ALS

Disorders in PIGG gene can cause intellectual disability with seizures and hypotonia

CUMC researchers identify new neurodevelopmental syndrome

Scientists identify genetic mechanisms behind development of myopia

GSK3β inhibition may be potential therapeutic strategy for treating ACM

Subtle changes in protein-coding gene may cause different genetic disorders

Researchers determine 3-D structure of RlmN protein from bacteria

Industry Focus eBook - Cell & Gene Therapy (1st Edition) eBook

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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