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Eliglustat drug improves liver, spleen size and hemoglobin level in adults with Gaucher disease type 1

Among previously untreated adults with Gaucher disease type 1, a genetic disease in which there is improper metabolism due to a defect in an enzyme, treatment with the drug eliglustat resulted in significant improvements in liver and spleen size hemoglobin level, and platelet count, according to a study in the February 17 issue of JAMA.

18 Feb 2015

UT Arlington chemist receives NIH's Academic Research Enhancement Award for protein research

A University of Texas at Arlington bio-analytical chemist exploring proteins, their structures and functions by using cutting-edge analytical instrumentation called mass spectrometry has received an Academic Research Enhancement Award from the National Institutes of Health.

18 Feb 2015

TNF signaling molecule triggers Crohn's disease, ulcerative colitis

Cells lining the intestinal tract form a critical barrier, protecting our bodies from the billions of bacteria living in the gut. Breaches in this barrier are driven largely by a single signaling molecule called tumor necrosis factor (TNF), elevated amounts of which are associated with inflammatory bowel diseases like Crohn's disease and ulcerative colitis.

17 Feb 2015

Study shows link between autoimmune diseases and gene regulatory elements

Investigators with the National Institutes of Health have discovered the genomic switches of a blood cell key to regulating the human immune system.

17 Feb 2015

Bacteria's DNA can pass trait to offspring in a way similar to parents' own DNA

It's a firmly established fact straight from Biology 101: Traits such as eye color and height are passed from one generation to the next through the parents' DNA.

17 Feb 2015

Scientists demonstrate the importance of RNA editing in melanoma development

The importance of RNA editing in melanoma has been demonstrated by scientists at The University of Texas MD Anderson Cancer Center. The study revealed that a lack of RNA editing, a process by which information inside RNA molecules is transformed, leads to tumor growth and progression through manipulation of proteins.

17 Feb 2015

Researchers show how gene mutations cause common forms of cartilage tumors

Duke Medicine researchers have shown how gene mutations may cause common forms of cartilage tumors. In a study published in the Feb. 16, 2015, issue of the Proceedings of the National Academy of Sciences, Duke researchers and their colleagues revealed that mutations in the isocitrate dehydrogenase (IDH) gene contribute to the formation of benign tumors in cartilage that can be a precursor to malignancies.

17 Feb 2015

Research: 14% of cerebral palsy cases are linked to genetic mutation

An international research group led by a team at the University of Adelaide has made what they believe could be the biggest discovery into cerebral palsy in 20 years.

17 Feb 2015

Wistar researchers identify new therapeutic target for aggressive form of ovarian cancer

Ovarian cancer is the deadliest of all cancers affecting the female reproductive system with very few effective treatments available. Prognosis is even worse among patients with certain subtypes of the disease. Now, researchers at The Wistar Institute have identified a new therapeutic target in a particularly aggressive form of ovarian cancer, paving the way for what could be the first effective targeted therapy of its kind for the disease.

16 Feb 2015

New study finds promising target for future therapies to treat breast and ovarian cancer patients

The Food and Drug Administration's recent approval of the drug olaparib for ovarian cancer patients with inherited mutations in the genes BRCA1 or BRCA2 came as welcome news to the thousands of women now eligible to receive it. A new study by Dana-Farber Cancer Institute scientists indicates that the pool of patients who can benefit from the drug is potentially much wider - and offers a ready means of identifying them.

16 Feb 2015

FOI Request by Bowel Cancer UK highlights big variation in tests for lynch syndrome

Bowel Cancer UK submitted the FOI request in November 2014 to every NHS trust in England, health board in Scotland and health and social care trust in Northern Ireland to establish the number of trusts/health boards which were implementing the testing for all bowel cancer patients under 50, as mandated by the Royal College of Pathologists. Lynch syndrome is responsible for around one in 12 cases of bowel cancer in people aged under 50.

16 Feb 2015

Tissue and cell diagnostics market reaches $7.7 billion in 2014

With fast and effective testing techniques, the tissue and cell diagnostics market was estimated to have reached $7.7 billion in 2014 for in vitro diagnostic (IVD) and other reagents used by clinical laboratories, according to Kalorama Information.

16 Feb 2015

Public health researchers report frequency of two muscle-weakness disorders

Researchers in public health have reported in the first broad study in the United States the frequency of two muscle-weakness disorders that strike mostly boys: Duchenne muscular dystrophy and Becker muscular dystrophy.

16 Feb 2015

Eight clinical researchers selected as finalists for Outstanding Investigator Award at Cardiology 2015

Pediatric cardiology researchers and clinicians from numerous centers from around the world are gathering at the Cardiology 2015: the 18th Annual Update on Pediatric and Congenital Cardiovascular Disease conference, sponsored by The Children's Hospital of Philadelphia and Phoenix Children's Hospital on Feb. 11 to Feb. 15 in Scottsdale, Ariz.

16 Feb 2015

20th annual edition of NCCN Guidelines for Breast Cancer published

Breast cancer is the most frequently diagnosed cancer globally and the leading cause of cancer-related death in women. However, the incidence of breast cancer has somewhat stabilized over the past few decades, and breast cancer mortality appears to be declining, suggesting a benefit from the combination of early detection and more effective treatment.

16 Feb 2015

Study shows that de novo mutations can be detected in human in vitro fertilized embryos using PGD

Reprogenetics, the largest U.S. genetics laboratory specializing in Preimplantation Genetic Diagnosis (PGD), announced today the publication of new clinical data in the March issue of Genome Research demonstrating that de novo single base mutations can be detected in embryos after in vitro fertilization (IVF).

16 Feb 2015

Climate change causes emergence of more infectious diseases

The appearance of infectious diseases in new places and new hosts, such as West Nile virus and Ebola, is a predictable result of climate change, says a noted zoologist affiliated with the Harold W. Manter Laboratory of Parasitology at the University of Nebraska-Lincoln.

16 Feb 2015

Researchers discover molecular 'switch' that controls replication, transcription of mitochondria DNA

A team of researchers led by Dmitry Temiakov, PhD, of the Rowan University School of Osteopathic Medicine (RowanSOM), has discovered a molecular 'switch' that controls replication and transcription of mitochondria DNA, a key finding that could influence the development of targeted therapies for cancer, developmental processes related to fertility and aging.

16 Feb 2015

Breast density laws could pose risk of unnecessary procedures for women with breast cancer

Women with dense breast tissue are at increased risk of breast cancer. Dense breast tissue, generally defined as having more fibroglandular than fatty tissue, can make it more difficult for radiologists to detect cancer on screening mammography.

16 Feb 2015

Henry Ford physicians suction cancerous tumor from vein in metastatic kidney cancer patient

Physicians at Henry Ford Hospital successfully suctioned a cancerous tumor from a major vein in a patient with metastatic kidney cancer, clearing the way for him to undergo a minimally-invasive kidney removal. This allowed him to participate in a clinical trial using genetic material from his tumor to produce a vaccine to help fight his metastatic disease.

16 Feb 2015

Genetic News and Research

Eliglustat drug improves liver, spleen size and hemoglobin level in adults with Gaucher disease type 1

UT Arlington chemist receives NIH's Academic Research Enhancement Award for protein research

TNF signaling molecule triggers Crohn's disease, ulcerative colitis

Study shows link between autoimmune diseases and gene regulatory elements

Bacteria's DNA can pass trait to offspring in a way similar to parents' own DNA

Scientists demonstrate the importance of RNA editing in melanoma development

Researchers show how gene mutations cause common forms of cartilage tumors

Research: 14% of cerebral palsy cases are linked to genetic mutation

Wistar researchers identify new therapeutic target for aggressive form of ovarian cancer

New study finds promising target for future therapies to treat breast and ovarian cancer patients

FOI Request by Bowel Cancer UK highlights big variation in tests for lynch syndrome

Tissue and cell diagnostics market reaches $7.7 billion in 2014

Public health researchers report frequency of two muscle-weakness disorders

Eight clinical researchers selected as finalists for Outstanding Investigator Award at Cardiology 2015

20th annual edition of NCCN Guidelines for Breast Cancer published

Study shows that de novo mutations can be detected in human in vitro fertilized embryos using PGD

Climate change causes emergence of more infectious diseases

Researchers discover molecular 'switch' that controls replication, transcription of mitochondria DNA

Breast density laws could pose risk of unnecessary procedures for women with breast cancer

Henry Ford physicians suction cancerous tumor from vein in metastatic kidney cancer patient

eBook: Using iPSCs models for human disease research and drug discovery 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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