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Study emphasizes benefits of newborn screening for CF patients

A new study led by a team from the Research Institute of the McGill University Health Centre and Cystic Fibrosis Canada reinforces the benefits of newborn screening for cystic fibrosis (CF) patients.

5 May 2016

Aggregation of SOD1 protein in nerve cells can lead to ALS

Persons with the serious disorder ALS, can have a genetic mutation that causes the protein SOD1 to aggregate in motor neurons in the brain and spinal cord. Researchers at Umea University have discovered that, when injected into mice, the SOD1 aggregation spreads rapidly leading to ALS. The discovery has been described in the Journal of Clinical Investigation.

4 May 2016

Long-term use of herbal remedies may not guarantee safety

Millions of people around the world use herbal health remedies, following a tradition that began millennia ago. Many believe that herbs are safe because they have been used for many years, but researchers from Baylor College of Medicine and Stony Brook University are raising awareness that long-term use of herbal remedies is no guarantee of their safety. The invited commentary appears in EMBO reports.

4 May 2016

New EU project aims to develop models that can help predict behavior of cancer-related signaling pathways

A group of scientists at Helmholtz Zentrum München will engage in a new project promoted by the EU. The scientists in the team of Dr. Jan Hasenauer, head of the young investigator group 'Data-driven Computational Modeling' work as part of CanPathPro.

4 May 2016

Researchers identify 43 specific genes associated with both autism and cancer

Autism and cancer share more than 40 risk genes, suggesting that common mechanisms underlying the functions of some of these genes could conceivably be leveraged to develop therapies not just for cancer but for autism as well, an extensive assessment by researchers with the UC Davis MIND Institute and Comprehensive Cancer Center has found.

4 May 2016

Total cessation of GnRH production by hypothalamic neurons can lead to infertility

Individual small RNAs are responsible for controlling the expression of gonadoliberin or GnRH (Gonadotropin-Releasing Hormone), a neurohormone that controls sexual maturation, the appearance of puberty, and fertility in adults.

3 May 2016

New investigational inhibitor JQEZ5 can block specific molecular malfunctions driving cancer

In a step forward in the push for targeted treatments that can block the specific molecular malfunctions driving cancer, University of North Carolina Lineberger Comprehensive Cancer Center researchers have demonstrated how a genetic mutation can drive the most common type of lymphoma as well as melanoma, the deadliest form of skin cancer.

3 May 2016

Researchers discover new function of genes in Fanconi anemia pathway

Researchers from UT Southwestern Medical Center have identified an important new function of genes in the Fanconi anemia pathway - a finding that could have implications for development of new therapies to treat this disorder and some cancers.

3 May 2016

Researchers examine critical role of hypoxia in induction, amplification of FOP lesions

The cellular response to the lack of oxygen fans the flames of flare-ups in a rare bone disorder. In fibrodysplasia ossificans progressiva (FOP), a mutation triggers bone growth in muscles, which limits motion, breathing, and swallowing, among a host of progressive symptoms.

3 May 2016

LJI study could provide important target for autoimmune disease interventions

Follicular helper T cells (Tfh cells), a rare type of T cells, are indispensable for the maturation of antibody-producing B cells. They promote the proliferation of B cells that produce highly selective antibodies against invading pathogens while weeding out those that generate potentially harmful ones.

3 May 2016

$Ibrutinib shows added benefit for refractory mantle cell lymphoma patients$

Ibrutinib shows added benefit for refractory mantle cell lymphoma patients

Ibrutinib is a drug for the treatment of rare diseases. It has been approved for the treatment of adults with chronic lymphocytic leukaemia (CLL) or with relapsed or refractory mantle cell lymphoma (MCL) since 2014, and since 2015 also for the treatment of adults with Waldenström macroglobulinaemia. Regarding the treatment of patients with CLL or MCL, the Federal Joint Committee (G-BA) already conducted a benefit assessment and made a decision in 2015.

3 May 2016

Fish oil supplements combined with anti-cancer therapy can reduce renal cell carcinoma

Researchers at UC Davis have shown that docosahexaenoic acid (DHA), a fatty acid commonly found in fish and fish oil supplements, reduces renal cell carcinoma invasiveness, growth rate, and blood vessel growth when combined with the anti-cancer therapy regorafenib. The study was published in the journal Molecular Cancer Therapeutics.

3 May 2016

NEI to discuss research advances in regenerative medicine for eye disease at ARVO 2016

The National Eye Institute (NEI), part of NIH, is participating in the Inaugural Press Conference from the Association for Research in Vision and Ophthalmology Annual Meeting (ARVO 2016), the largest gathering of eye and vision researchers in the world, attracting over 11,000 attendees from more than 75 countries.

2 May 2016

Researchers explore changes in Parkinson's-affected cells at different stages of the disease

It's an unsettling thought: You could be walking around for 20 years developing Parkinson's disease and not even know it.

29 Apr 2016

New research reveals sliding ability of cancer cells that helps in tumor spread

Metastasis. The very word evokes fear. Defined as the spread of cancer cells from one part of the body to another, metastasis is the cause of approximately 90 percent of deaths among cancer patients. How does metastasis come about? And can we stop it? New research from a team led by Northeastern's Anand Asthagiri, associate professor of bioengineering and chemical engineering, helps to answer those questions. It provides an astonishing look at the biophysical properties that permit breast cancer cells to "slide" by obstales and travel out of their primary tumor toward a blood vessel that will carry them to a new site.

29 Apr 2016

New gene testing method can identify mutations, prioritize variants in breast and ovarian cancer genes

A research team led by an award-winning genomicist at Western University has developed a new method for identifying mutations and prioritizing variants in breast and ovarian cancer genes, which will not only reduce the number of possible variants for doctors to investigate, but also increase the number of patients that are properly diagnosed.

29 Apr 2016

Key gene changes reveal four previously unknown conditions within schizophrenia

Changes in key genes clearly define four previously unknown conditions within the umbrella diagnosis of schizophrenia, according to a study led by researchers from NYU Langone Medical Center published online April 28 in EBioMedicine, a Lancet journal. Cases associated with changes in each of the four genes were different from each other in terms of symptoms, intelligence level and other disease features.

29 Apr 2016

Janssen gets positive CHMP opinion for IMBRUVICA (ibrutinib) to treat patients with previously untreated CLL

Janssen-Cilag International NV today announced that the Committee for Medicinal Products for Human Use of the European Medicines Agency has adopted a Positive Opinion, recommending broadening the existing marketing authorisation for ibrutinib as a single agent for the treatment of adult patients with previously untreated chronic lymphocytic leukaemia (CLL).

29 Apr 2016

Study links age-related changes in human pancreas to diabetes development

A Stanford-led national collaboration to procure and analyze human pancreatic tissue from deceased donors illustrates how the organ's function changes as we age, and could point the way toward new diabetes treatments.

29 Apr 2016

New class of cancer-driver gene may serve as unique therapeutic targets, biomarkers in TNBC

The discovery of long non-coding RNA (lncRNA) has dramatically changed the understanding of the biology of diseases such as cancer. The human genome contains about 20,000 protein-coding genes - less than 2 percent of the total - but 70 percent of the genome is made into non-gene-encoding RNA.

29 Apr 2016

Mutation News and Research

Study emphasizes benefits of newborn screening for CF patients

Aggregation of SOD1 protein in nerve cells can lead to ALS

Long-term use of herbal remedies may not guarantee safety

New EU project aims to develop models that can help predict behavior of cancer-related signaling pathways

Researchers identify 43 specific genes associated with both autism and cancer

Total cessation of GnRH production by hypothalamic neurons can lead to infertility

New investigational inhibitor JQEZ5 can block specific molecular malfunctions driving cancer

Researchers discover new function of genes in Fanconi anemia pathway

Researchers examine critical role of hypoxia in induction, amplification of FOP lesions

LJI study could provide important target for autoimmune disease interventions

Ibrutinib shows added benefit for refractory mantle cell lymphoma patients

Fish oil supplements combined with anti-cancer therapy can reduce renal cell carcinoma

NEI to discuss research advances in regenerative medicine for eye disease at ARVO 2016

Researchers explore changes in Parkinson's-affected cells at different stages of the disease

New research reveals sliding ability of cancer cells that helps in tumor spread

New gene testing method can identify mutations, prioritize variants in breast and ovarian cancer genes

Key gene changes reveal four previously unknown conditions within schizophrenia

Janssen gets positive CHMP opinion for IMBRUVICA (ibrutinib) to treat patients with previously untreated CLL

Study links age-related changes in human pancreas to diabetes development

New class of cancer-driver gene may serve as unique therapeutic targets, biomarkers in TNBC

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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