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IRB Barcelona scientists provide molecular details about Seckel Syndrome

Today in Nature Communications, scientists at the Institute for Research in Biomedicine (IRB Barcelona) provide molecular details about Seckel Syndrome, a rare disease that causes microcephaly, or small brain, and growth delays.

8 Jul 2015

Scientists and families to gather in The Woodlands, Texas to build up community around Christianson Syndrome

It takes a committed community to develop effective treatments for a new disease. With that hope, scientists and families will come together in a Houston suburb July 30- Aug. 2 to build up the community around Christianson Syndrome, a genetic intellectual disability disorder, often associated with autistic features, first discovered 16 years ago.

7 Jul 2015

Tests reveal that FY26 cancer drug is 49 times more potent than Cisplatin drug

Tests have shown that a new cancer drug, FY26, is 49 times more potent than the clinically used treatment Cisplatin.

7 Jul 2015

WPI-led study provides clues to new ways to treat difficult-to-cure fungal infections

A study by a multidisciplinary research team, co-directed by Worcester Polytechnic Institute, offers new insights into how virulent fungi adapt through genetic modifications to fight back against the effects of medication designed to block their spread, and how that battle leaves them temporarily weakened. These insights may provide clues to new ways to treat notoriously difficult-to-cure fungal infections like thrush and vaginitis.

7 Jul 2015

Breakthrough discovery could help young girls suffering from rare form of epilepsy

An international team, led by a University of Adelaide genetics expert, has made a breakthrough discovery which is expected to help thousands of young girls worldwide who are suffering from a rare yet debilitating form of epilepsy.

7 Jul 2015

Researchers compare effectiveness of two stem cell types in treating retinal degeneration

By growing two types of stem cells in a "3-D culture" and measuring their ability to produce retinal cells, a team lead by St. Jude Children's Research Hospital researchers has found one cell type to be better at producing retinal cells.

3 Jul 2015

Gene therapy improves lung function in patients with cystic fibrosis

Gene therapy was shown to provide significant benefits for patients with cystic fibrosis in a recent clinical study published in The Lancet Respiratory Medicine journal.

3 Jul 2015

Phase IIIb CONSIGN study confirms benefit of regorafenib in patients with pre-treated mCRC

The phase IIIb CONSIGN study has confirmed the benefit of regorafenib in patients with previously treated metastatic colorectal cancer (mCRC), researchers announced at the ESMO 17th World Congress on Gastrointestinal Cancer 2015 in Barcelona.

3 Jul 2015

Gene therapy for cystic fibrosis shows significant benefit in lung function

For the first time gene therapy for cystic fibrosis has shown a significant benefit in lung function compared with placebo, in a phase 2 randomised trial published in The Lancet Respiratory Medicine journal. The technique replaces the defective gene response for cystic fibrosis by using inhaled molecules of DNA to deliver a normal working copy of the gene to lung cells.

3 Jul 2015

Review article provides in depth survey of studies focusing on retinoblastoma protein's role in apoptosis

Retinoblastoma protein RB1, which is named after a form of pediatric tumor of the eye, is among the most common genetically regulated cellular proteins to malfunction in human cancer. RB1 was also the first tumor suppressor gene to be identified and its modes of inactivation in retinoblastoma tumors provided the basis for the ground-breaking two-hit hypothesis by the geneticist Alfred G. Knudson in the 70s, according to which cancer is due to the accumulation of multiple 'hits' or mutations in certain genes.

3 Jul 2015

DTC genetic testing has negative consequences in children

A woman coping with the burden of familial breast cancer can't help but wonder if her young daughter will suffer the same fate. Has she inherited the same disease-causing mutation? Is it best to be prepared for the future, or to wait? During the last decade, genetic tests have been through a sea change, both in their availability and the technologies behind them. Today there are at least 34 companies that offer direct to consumer (DTC) DNA testing, some of which return health results. And now it is possible to sequence someone's entire genetic code for the price of a laptop.

3 Jul 2015

Researchers explore how Sox9 protein regulates production of cartilage

Cartilage does a lot more than determine the shapes of people's ears and noses. It also enables people to breathe and to form healthy bones -- two processes essential to life. In a study published in Cell Reports, USC Stem Cell researcher Xinjun He and University of Tokyo researcher Shinsuke Ohba explore how a protein called Sox9 regulates the production of cartilage.

3 Jul 2015

Researchers discover link between acute liver failure and specific gene mutations in young children

Acute liver failure is a rare yet life-threatening disease for young children. It often occurs extremely rapidly, for example, when a child has a fever. Yet in around 50 percent of cases it is unclear as to why this happens. Now, a team of researchers working on an international research project headed by Technische Universität München, the Helmholtz Zentrum Munich and Heidelberg University Hospital have discovered a link between the disease and mutations in a specific gene.

3 Jul 2015

Researchers establish link between NBAS gene and acute liver failure

Acute liver failure is a rare yet life-threatening disease for young children. It often occurs extremely rapidly, for example, when a child has a fever. Yet in around 50 percent of cases it is unclear as to why this happens. Now, a team of researchers working on an international research project headed by Technische Universität München (TUM), the Helmholtz Zentrum Munich and Heidelberg University Hospital have discovered a link between the disease and mutations in a specific gene.

2 Jul 2015

New NEI study shows that microglia can accelerate damage wrought by blinding eye disorders

Spider-like cells inside the brain, spinal cord and eye hunt for invaders, capturing and then devouring them. These cells, called microglia, often play a beneficial role by helping to clear trash and protect the central nervous system against infection. But a new study by researchers at the National Eye Institute (NEI) shows that they also accelerate damage wrought by blinding eye disorders, such as retinitis pigmentosa.

2 Jul 2015

New research links mutations in TEX11 gene to some cases of male infertility

In the most severe form of male infertility, men do not make any measurable levels of sperm. This condition, called azoospermia, affects approximately 1 percent of the male population and is responsible for about a sixth of cases of male infertility.

2 Jul 2015

Study of genetic mutations could lead to optimized treatment plans for aplastic anemia patients

Scientists have identified a group of genetic mutations in patients with aplastic anemia, which likely will help doctors optimize treatment for this rare and deadly blood condition. The study, appearing in the New England Journal of Medicine, could lead to tailor-made treatment plans for aplastic anemia patients as part of the emerging precision medicine movement.

2 Jul 2015

Researchers receive $1.35 million grant to study how influenza virus passes from birds to humans

An international research team led by Lukas Tamm of the University of Virginia School of Medicine will receive $1.35 million from the Human Frontier Science Program Organization to better understand how the influenza virus passes from birds to humans.

2 Jul 2015

Certain colon cancer genes take a step back to move forward

Recent Weizmann Institute studies are revealing a complex picture of cancer progression in which certain genes that drive tumor growth in the earlier stages get suppressed in later stages - taking a step back to move forward.

1 Jul 2015

Study: Around 6% survive cardiac arrest outside of hospital setting

Cardiac arrest strikes almost 600,000 people each year, killing the vast majority of those individuals, says a new report from the Institute of Medicine. Every year in the U.S., approximately 395,000 cases of cardiac arrest occur outside of a hospital setting, in which less than 6 percent survive. Approximately 200,000 cardiac arrests occur each year in hospitals, and 24 percent of those patients survive. Estimates suggest that cardiac arrest is the third leading cause of death in the U.S. behind cancer and heart disease.

1 Jul 2015

Mutation News and Research

IRB Barcelona scientists provide molecular details about Seckel Syndrome

Scientists and families to gather in The Woodlands, Texas to build up community around Christianson Syndrome

Tests reveal that FY26 cancer drug is 49 times more potent than Cisplatin drug

WPI-led study provides clues to new ways to treat difficult-to-cure fungal infections

Breakthrough discovery could help young girls suffering from rare form of epilepsy

Researchers compare effectiveness of two stem cell types in treating retinal degeneration

Gene therapy improves lung function in patients with cystic fibrosis

Phase IIIb CONSIGN study confirms benefit of regorafenib in patients with pre-treated mCRC

Gene therapy for cystic fibrosis shows significant benefit in lung function

Review article provides in depth survey of studies focusing on retinoblastoma protein's role in apoptosis

DTC genetic testing has negative consequences in children

Researchers explore how Sox9 protein regulates production of cartilage

Researchers discover link between acute liver failure and specific gene mutations in young children

Researchers establish link between NBAS gene and acute liver failure

New NEI study shows that microglia can accelerate damage wrought by blinding eye disorders

New research links mutations in TEX11 gene to some cases of male infertility

Study of genetic mutations could lead to optimized treatment plans for aplastic anemia patients

Researchers receive $1.35 million grant to study how influenza virus passes from birds to humans

Certain colon cancer genes take a step back to move forward

Study: Around 6% survive cardiac arrest outside of hospital setting

Industry Focus eBook - Analytical Chemistry (2nd 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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