Phenotype News and Research

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Whole exome sequencing can assist in early diagnosis of various disorders

Approximately one-fourth of the 3,386 patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents, said researchers from the Baylor College of Medicine departments of molecular and human genetics and pediatrics and the Baylor Human Genome Sequencing Center and the University of Texas Health Science Center at Houston.

20 Oct 2014

CUMC researchers use innovative algorithm to find driving force behind aggressive form of glioblastoma

Using an innovative algorithm that analyzes gene regulatory and signaling networks, Columbia University Medical Center researchers have found that loss of a gene called KLHL9 is the driving force behind the most aggressive form of glioblastoma, the most common form of brain cancer.

10 Oct 2014

Case Western Reserve researcher lands Director's New Innovator Awards from NIH

For the second consecutive year, a Case Western Reserve University School of Medicine researcher has landed one of the year's much-coveted Director's New Innovator Awards from the National Institutes of Health. Principal investigator Rong Xu, PhD, assistant professor of medical informatics, will receive $2,377,000 for five years, starting immediately, to initiate computational analysis of thousands of drugs and their effects.

8 Oct 2014

Gaucher disease: an interview with Dr Clement Olivier, Shire

Gaucher disease is the most common condition within a family of rare diseases known as the lysosomal storage diseases. The disease causes lipids to accumulate in cells, which is why it is referred to as a storage disorder. The accumulation occurs mainly in the spleen, liver, and bones, but may also occur in the lungs, heart, and central nervous system.

30 Sep 2014

Early exposure to marijuana can lead to immune-related diseases in adulthood

When it comes to using marijuana, new research, involving mice and published in the October 2014 issue of the Journal of Leukocyte Biology, suggests that just because you can do it, doesn't mean that you should. That's because a team of Italian scientists have found that using marijuana in adolescence may do serious long-term damage to the immune system.

30 Sep 2014

Study provides support for new understanding of the immune system

A study published in the journal Science provides support for a new-and still controversial-understanding of the immune system. The research was conducted by collaborators in the U.S. and Europe, including Robert Cramer, PhD, an assistant professor of microbiology and immunology at the Geisel School of Medicine and member of the Dartmouth Lung Biology Center, and Kelly Shepherdson, PhD, at the time a graduate student in Cramer's lab.

29 Sep 2014

Neuropathic pain phenotype identified in knee osteoarthritis

Some patients with knee osteoarthritis may experience neuropathic-like symptoms associated with central pain processing, reflecting a discrete phenotype, study findings suggest.

22 Sep 2014

Researchers discover new molecular mechanism that plays crucial role in age-dependent diabetes

Ageing of insulin-secreting cells is coupled to a progressive decline in signal transduction and insulin release, according to a recent study by researchers at Karolinska Institutet in Sweden.

18 Sep 2014

Catecholamine polymorphism influences opioid use

The catechol-O-methyltransferase rs4680 single nucleotide polymorphism could affect postoperative opioid consumption, study findings show.

17 Sep 2014

Researchers discover new details of how autoantibodies destroy healthy cells in skin

University at Buffalo researchers and colleagues studying a rare, blistering disease have discovered new details of how autoantibodies destroy healthy cells in skin.

11 Sep 2014

Combination miRNA therapy offers promising therapeutic avenue for non-small-cell lung cancer

Micro RNAs (miRNA) have recently emerged as key therapeutic agents against cancers and are actively being evaluated in pre-clinical models of various cancers as well as in human clinical trials.

8 Sep 2014

Scientists find epigenetic link between mother's diet and offspring's risk of future obesity

Many research studies have made it clear that a mother's eating habits prior to pregnancy, during pregnancy and during lactation have a profound impact on her offspring and their propensity for developing weight problems, including obesity.

3 Sep 2014

Irinotecan-based therapy improves survival rates for patients with stage III colon cancer

A subset of patients with stage III colon cancer had improved survival rates when treated with irinotecan-based therapy, according to a new study in Gastroenterology, the official journal of the American Gastroenterological Association.

29 Aug 2014

New biomarker may improve diagnosis of early-stage rheumatoid arthritis

A novel biomarker for rheumatoid arthritis (RA) has significant potential to help physicians better identify early-stage disease, when treatment can often arrest further disease progression and disability, according to a new study in The Journal of Rheumatology.

From Quest Diagnostics 28 Aug 2014

FDNA, London Medical Databases partner to offer online access to dysmorphology database

FDNA Inc. and London Medical Databases Ltd. announced today that they have partnered to offer, for the first time, online access to the award winning database exclusively through FDNA's solutions.

26 Aug 2014

Study: Low birth weight may put African American women at higher risk for type 2 diabetes

African American women born at a low or very low birth weight may be at a higher risk for developing type 2 diabetes. The findings, which appear in Diabetes Care, may explain in part the higher occurrence of type 2 diabetes in African American populations, which has a high prevalence of low birth weight.

22 Aug 2014

Phenotype News and Research

Whole exome sequencing can assist in early diagnosis of various disorders

CUMC researchers use innovative algorithm to find driving force behind aggressive form of glioblastoma

Case Western Reserve researcher lands Director's New Innovator Awards from NIH

Gaucher disease: an interview with Dr Clement Olivier, Shire

Early exposure to marijuana can lead to immune-related diseases in adulthood

Study provides support for new understanding of the immune system

Neuropathic pain phenotype identified in knee osteoarthritis

Researchers discover new molecular mechanism that plays crucial role in age-dependent diabetes

Catecholamine polymorphism influences opioid use

Researchers discover new details of how autoantibodies destroy healthy cells in skin

Combination miRNA therapy offers promising therapeutic avenue for non-small-cell lung cancer

Scientists find epigenetic link between mother's diet and offspring's risk of future obesity

Irinotecan-based therapy improves survival rates for patients with stage III colon cancer

New biomarker may improve diagnosis of early-stage rheumatoid arthritis

FDNA, London Medical Databases partner to offer online access to dysmorphology database

Study: Low birth weight may put African American women at higher risk for type 2 diabetes

Physiological variables best predict adult asthma phenotypes

Study identifies novel gene that controls nerve conduction velocity linked with MS

Researchers discover highly virulent, multidrug resistant form of pathogen in Ohio

Schizophrenia-linked genetic variations and the developing brain: an interview with Prof. Guo-li Ming

Sensing a Healthier Future

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

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