Genetic News and Research

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Unhealthy gut microbiome reduces brain synaptic pruning, impairs learning

A new study by Weill Cornell Medicine and Cornell University has come up with more explanations of how gut microbes communicate with the brain neurons. The study, published in the journal Nature on October 23, 2019, examined the brains of mouse models and found that when the gut microbiome is significantly reduced, there are changes in gene expression in the brain’s microglial cells.

24 Oct 2019

Genetically definable subgroups of cancers sensitive to treatment

Precision oncology aims to use genetic features of a patient's tumor to tailor anti-cancer therapy. DNA mutations in a drug target have provided a number of therapeutic opportunities; however, there are many cancer types that do not have obvious targetable mutations.

24 Oct 2019

Metabolite profiling during diagnosis helps identify poor treatment outcomes in ALL

The survival of patients with pediatric acute lymphoblastic leukemia (ALL) has significantly improved in the last several decades. However, novel strategies to identify cases that are likely to respond poorly to treatment are still needed.

24 Oct 2019

Using machine learning on ultrasound images to predict risk of thyroid cancer

Thyroid nodules are small lumps that form within the thyroid gland and are quite common in the general population, with a prevalence as high as 67%. The great majority of thyroid nodules are not cancerous and cause no symptoms.

24 Oct 2019

Gene linked to schizophrenia likely confers risk for illness

Researchers have discovered in mice how one of the few genes definitively linked to schizophrenia, called SETD1A, likely confers risk for the illness. Mice genetically engineered to lack a functioning version of the enzyme-coding gene showed abnormalities in working memory, mimicking those commonly seen in schizophrenia patients.

24 Oct 2019

Breakthrough study suggests ways to develop treatments for rare genetic skin disease

A breakthrough has been made in understanding a rare genetic skin disease that causes progressively enlarging skin tumours over the scalp, face and body.

24 Oct 2019

Researchers identify potential approach to stop growth of common brain tumor in children

University of North Carolina Lineberger Comprehensive Cancer Center researchers have identified a potential approach to stop the growth of the most common type of brain tumor in children.

24 Oct 2019

$5 million in federal funding to accelerate potential treatments for urea cycle disorders

An international research consortium co-led by Andrea L. Gropman, M.D., at Children's National Hospital has received $5 million in federal funding as part of an overall effort to better understand rare diseases and accelerate potential treatments to patients.

24 Oct 2019

Genetic variations linked to declines in blood oxygen levels during sleep identified

Researchers have identified 57 genetic variations of a gene strongly associated with declines in blood oxygen levels during sleep. Low oxygen levels during sleep are a clinical indicator of the severity of sleep apnea, a disorder that increases the risk of heart disease, dementia, and death.

24 Oct 2019

Mayo Clinic study explores patient privacy in MRI research

Though identifying data typically are removed from medical image files before they are shared for research, a Mayo Clinic study finds that this may not be enough to protect patient privacy.

24 Oct 2019

Study reveals novel druggable driver gene in human gastrointestinal stromal tumors

Sarcomas - cancers that arise from transformed mesenchymal cells (a type of connective tissue) - are quite deadly. Gastrointestinal stromal tumors are the most common human sarcoma and are initiated by activating mutations in the KIT receptor tyrosine kinase.

24 Oct 2019

Study: More than 300 million people affected worldwide by rare diseases

Rare diseases represent a global problem. Until now, the lack of data made it difficult to estimate their prevalence.

24 Oct 2019

Study seeks participants with VCFS-related psychosis to help create biobank of cerebral organoids

A landmark study is calling for at least 50 people in the U.S. with Velo-Cardio-Facial Syndrome (VCFS)-related psychosis to provide blood samples to create the world’s largest VCFS biobank to date of tiny spheres of neural tissue called "cerebral organoids."

24 Oct 2019

Young mothers more likely to have children with ADHD

Young mothers have a greater chance of having a child with attention deficit hyperactivity disorder according to new research from the University of South Australia.

24 Oct 2019

Molecular processes underlying communication between gut microbes and brain cells revealed

New cellular and molecular processes underlying communication between gut microbes and brain cells have been described for the first time by scientists at Weill Cornell Medicine and Cornell's Ithaca campus.

23 Oct 2019

New NPO formed to accelerate development of therapies for Shankopathies

Parents of children affected by Phelan-McDermid syndrome (PMS) announce the formation of CureSHANK, a nonprofit organization on a mission to accelerate drug development in PMS and other diseases related to the SHANK genes for which there are currently no FDA approved treatments.

23 Oct 2019

Northwestern Medicine launches program to help women understand risk factors for osteoporosis

Loss of bone density is common as women age, particularly around menopause when women lose more bone than they make. When bone density becomes so low that fracture is likely, the condition is called osteoporosis.

23 Oct 2019

MIT neuroscientists find a way to reverse noise hypersensitivity in mice

People with autism often experience hypersensitivity to noise and other sensory input. MIT neuroscientists have now identified two brain circuits that help tune out distracting sensory information, and they have found a way to reverse noise hypersensitivity in mice by boosting the activity of those circuits.

23 Oct 2019

Dartmouth scientist awarded grant to build new AI technologies for lung cancer management

Lung cancer is the second most common type of cancer and leading cause of cancer death in men and women, with non-small cell lung cancer (NSCLC) accounting for up to 90% of cases. Somatic mutations heavily impact the sensitivity of NSCLC patients to various drug treatments, and are critical for choosing the most effective targeted therapies for this cancer.

23 Oct 2019

Study uses baker's yeast to show how genes interact to influence a surprising cellular outcome

Most diseases are complex--caused by faults in multiple genes--but studying how combinations of different genetic variants affect cellular traits is challenging.

23 Oct 2019

Genetic News and Research

Unhealthy gut microbiome reduces brain synaptic pruning, impairs learning

Genetically definable subgroups of cancers sensitive to treatment

Metabolite profiling during diagnosis helps identify poor treatment outcomes in ALL

Using machine learning on ultrasound images to predict risk of thyroid cancer

Gene linked to schizophrenia likely confers risk for illness

Breakthrough study suggests ways to develop treatments for rare genetic skin disease

Researchers identify potential approach to stop growth of common brain tumor in children

$5 million in federal funding to accelerate potential treatments for urea cycle disorders

Genetic variations linked to declines in blood oxygen levels during sleep identified

Mayo Clinic study explores patient privacy in MRI research

Study reveals novel druggable driver gene in human gastrointestinal stromal tumors

Study: More than 300 million people affected worldwide by rare diseases

Study seeks participants with VCFS-related psychosis to help create biobank of cerebral organoids

Young mothers more likely to have children with ADHD

Molecular processes underlying communication between gut microbes and brain cells revealed

New NPO formed to accelerate development of therapies for Shankopathies

Northwestern Medicine launches program to help women understand risk factors for osteoporosis

MIT neuroscientists find a way to reverse noise hypersensitivity in mice

Dartmouth scientist awarded grant to build new AI technologies for lung cancer management

Study uses baker's yeast to show how genes interact to influence a surprising cellular outcome

Genetics & Genomics - Second Edition eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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