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Researchers create first animal model of rare disease linked to problem of adrenal glands

The name of the gene is Armc5, for Armadillo repeat containing 5. Until now, its function was unknown. After 10 years of research, a team at the University of Montreal Hospital Research Centrehas succeeded in deleting this gene in experimental mice and discovered that its loss gives rise to a heretofore unidentified syndrome.

7 Feb 2017

Scientists use brain organoids to identify root causes of Miller-Dieker syndrome

Research led by scientists at UC San Francisco and Case Western Reserve University School of Medicine has used brain "organoids" — tiny 3D models of human organs that scientists grow in a dish to study disease — to identify root causes of Miller-Dieker Syndrome (MDS), a rare genetic disorder that causes fatal brain malformations.

7 Feb 2017

New article outlines identical symptoms linked to hip and spine pain

Many patients live with low back pain that radiates to the buttock, groin, thigh, and even knees. The challenge for patients, and often their doctors, is determining the origin of the pain -- the hip, the spine, or both.

7 Feb 2017

Scientists identify structure of androgenic receptor essential to fight against prostate cancer

A team led by researchers of the Institute of Biomedicine of the University of Barcelona and the Research Institute of the Hospital de la Santa Creu i Sant Paushows for the first time, the three-dimensional structure of the homodimeric androgen receptor ligand-binding domain, a structure that eluded researchers for years.

6 Feb 2017

Transporters of thyroid hormones play key role in development of the brain, study finds

Thyroid hormones are very important for the development of the brain. And when the transporters of these hormones are not functioning properly, the consequences for the development of the cerebellum or 'the little brain' are very serious.

6 Feb 2017

Researcher paints pitiless picture of life for people with acquired deaf-blindness

It is like being in a dirty glass jar, unable to reach out and with acquaintances passing by without saying hello. New research from the Sahlgrenska Academy paints a merciless picture of life with acquired deaf-blindness.

6 Feb 2017

TGen scientists identify novel genomic mutation that causes developmental delays in children

Researchers at the Translational Genomics Research Institute have identified a genomic mutation that causes physical abnormalities and developmental delays in children.

3 Feb 2017

Belgian scientists discover key role of Taok3 protein in triggering splenic B cell differentiation

Belgian scientists have discovered the key role of protein Taok3 in the development of type B immune cells known as MZB cells, which are responsible for making antibodies to fight diseases.

3 Feb 2017

Research shows how trigger sounds cause brain connection overdrive in misophonia sufferers

While many of us may find the sounds of chewing or breathing off-putting, for some they're unbearable - and new research has shown their brains are going into overdrive.

3 Feb 2017

Study supports clinical utility of DNA-based prenatal blood test in all pregnant women

A DNA-based prenatal blood test used to screen pregnancies for Down syndrome and similar chromosome abnormalities in high-risk women has moved a step closer to use in the general pregnancy population.

From Natera 3 Feb 2017

New technology enables “completely locked-in” patients to communicate

A brain─computer interface has enabled people with “locked-in” syndrome to communicate, according to trial results published in PLOS Biology. The device was able to decipher the thoughts of four patients who were unable to speak, move or blink and relay “yes” or “no” answers to basic questions.

2 Feb 2017

Poor metabolic health linked to increased risk for colorectal cancer in normal-weight women

Even though poor metabolic health is usually associated with obesity, 30 percent of normal-weight adults are believed to be metabolically unhealthy worldwide, according to Liang.

1 Feb 2017

Brain-computer interface could revolutionize lives of people with completely locked-in syndrome

A computer interface that can decipher the thoughts of people who are unable to communicate could revolutionize the lives of those living with completely locked-in syndrome, according to a new paper publishing January 31st, 2017 in PLOS Biology.

1 Feb 2017

Mount Sinai study characterizes genetically modified rat model of autism and intellectual disability

Researchers at The Seaver Autism Center for Research and Treatment at Mount Sinai have generated and characterized a genetically modified rat model of autism and intellectual disability, according to a study conducted at the Icahn School of Medicine at Mount Sinai and published January 31 in the journal eLife.

31 Jan 2017

Johns Hopkins researchers uncover mechanism in chikungunya virus that controls disease severity

Researchers led by the Johns Hopkins Bloomberg School of Public Health have identified a mechanism by which the chikungunya virus infects healthy cells and controls how severe the disease it causes will be, a mechanism they believe can be found in a number of other related viruses for which there are no treatments or licensed vaccines.

31 Jan 2017

TSRI study offers first look at early stages of brain development in patients with Fragile X syndrome

A new study led by scientists at The Scripps Research Institute is giving researchers a first look at the early stages of brain development in patients with Fragile X syndrome, a disorder that causes mild to severe intellectual disability and is the most common genetic cause of autism spectrum disorder.

31 Jan 2017

Researchers discover genes that could serve as therapeutic targets to reverse Rett syndrome

Researchers have uncovered 30 genes that could, one day, serve as therapeutic targets to reverse Rett syndrome, a rare neurological disorder that affects only girls and is a severe form of an autism spectrum disorder.

31 Jan 2017

Living at high altitudes linked to lower risk of developing Metabolic Syndrome

Could something as simple as the geographic area in which you live contribute to your risk of developing heart disease and diabetes, or suffering a stroke? A new study, published in the open-access journal Frontiers in Physiology, has revealed that the incidence of Metabolic Syndrome could be linked to the altitude of where a person lives.

30 Jan 2017

Antibodies can activate nerve cells within milliseconds, study shows

Antibodies are able to activate human nerve cells within milliseconds and hence modify their function -- that is the surprising conclusion of a study carried out at Human Biology at the Technical University of Munich.

28 Jan 2017

Diet and antibiotic use can change gut microbiota contributing to IBS symptoms

A recent review of research suggests that changes to the microorganisms (microbiota) in the gastrointestinal (GI) tract may be a cause of irritable bowel syndrome (IBS).

27 Jan 2017

Syndrome News and Research

Researchers create first animal model of rare disease linked to problem of adrenal glands

Scientists use brain organoids to identify root causes of Miller-Dieker syndrome

New article outlines identical symptoms linked to hip and spine pain

Scientists identify structure of androgenic receptor essential to fight against prostate cancer

Transporters of thyroid hormones play key role in development of the brain, study finds

Researcher paints pitiless picture of life for people with acquired deaf-blindness

TGen scientists identify novel genomic mutation that causes developmental delays in children

Belgian scientists discover key role of Taok3 protein in triggering splenic B cell differentiation

Research shows how trigger sounds cause brain connection overdrive in misophonia sufferers

Study supports clinical utility of DNA-based prenatal blood test in all pregnant women

New technology enables “completely locked-in” patients to communicate

Poor metabolic health linked to increased risk for colorectal cancer in normal-weight women

Brain-computer interface could revolutionize lives of people with completely locked-in syndrome

Mount Sinai study characterizes genetically modified rat model of autism and intellectual disability

Johns Hopkins researchers uncover mechanism in chikungunya virus that controls disease severity

TSRI study offers first look at early stages of brain development in patients with Fragile X syndrome

Researchers discover genes that could serve as therapeutic targets to reverse Rett syndrome

Living at high altitudes linked to lower risk of developing Metabolic Syndrome

Antibodies can activate nerve cells within milliseconds, study shows

Diet and antibiotic use can change gut microbiota contributing to IBS symptoms

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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