Phenotype News and Research

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Illumina donates more than 95,000 human genetic variants to ClinVar database

Illumina, Inc. announced that it has contributed over 95,000 human genetic variants to ClinVar, a public database hosted by the National Center for Biotechnology Information (NCBI).

From Illumina, Inc. 1 Nov 2016

Penn study reveals new sights into how some intestinal cells can withstand chemotherapy and radiation

When treating cancer with chemotherapy and radiation, decisions about dose must walk a fine line between attacking cancerous cells and preserving healthy ones.

31 Oct 2016

Senescent cells drive plaque formation in animal models of atherosclerosis, research shows

Atherosclerosis is a disease in which arteries narrow due to plaques. That narrowing can lead to heart attacks and strokes -- both of which are leading causes of death in the U.S.

27 Oct 2016

Study reveals potential therapeutic targets for treating patients who carry IFNGR receptor mutation

The study began by taking the medical history of 11 children, all of whom had a disorder due to mycobacteria infections, as the basis. All were discovered to have the same phenotype with the same mutation, which was located in the interferon-gamma (IFNGR) receptor, so the group began to explore what was causing this dysfunction.

27 Oct 2016

Rare neurological syndromes linked to variations in ATAD3A gene

A team of scientists from a number of institutions around the world, including Baylor College of Medicine, has discovered that rare neurological syndromes for which there was no cause can be the result of variations in the gene ATAD3A.

21 Oct 2016

Neurodevelopmental chick model may help study microcephaly effects of Zika virus

A newly published study from researchers working in collaboration with the Regenerative Bioscience Center at the University of Georgia demonstrates fetal death and brain damage in early chick embryos similar to microcephaly--a rare birth defect linked to the Zika virus, now alarming health experts worldwide.

20 Oct 2016

Home non-invasive ventilation for COPD: an interview with Dr Holger Woehrle

The key symptom of COPD is breathlessness, especially during daily activity, and the breathlessness is in addition to cough and chest tightness. The difficulty in managing this disease is that it's a disease that progresses with age.

From ResMed Corp 18 Oct 2016

NAC improves effectiveness of adoptive cell therapy for treating melanoma

A collaborative team of investigators at the Medical University of South Carolina and Loyola University have demonstrated for the first time that culturing T cells in N-acetyl cysteine (NAC) before they are infused as immunotherapy improves effectiveness and outcomes in a preclinical model of melanoma. These findings were reported in the October 15, 2016 issue of Cancer Research.

17 Oct 2016

Behavioral activation as effective as CBT? An interview with Professor David Richards

BA and CBT are quite fundamentally different. BA is what we call an outside-in treatment, which means it focuses on helping people with depression change the way in which they behave.

10 Oct 2016

A quantitative study of brain activity using light sheet microscopy

LaVison BioTec, developers of advanced microscopy solutions for the life sciences, report on the latest work of Li Ye, a Post-Doc Research Associate in the Deisseroth Laboratory at Stanford University he applies light sheet microscopy in a program to quantitatively study brain activity in order to better understand the processing of information.

5 Oct 2016

UEF research shows retinal changes may be detected earlier than brain changes

Diseases of the central nervous system (CNS) may manifest as pathological changes in the retina of the eye.

3 Oct 2016

Are migraines genetic? An interview with Nick Furlotte

There's a big debate right now in the migraine community around the underlying cause of the disease. The question is whether it is vascular, and has something to do with our vessels, or whether it has to do with our neurons not functioning correctly or misfiring.

26 Sep 2016

Skin phenotype of pediatric eczema opens door for personalized treatment of AD in infants

Researchers for the first time have identified the skin phenotype of pediatric eczema or atopic dermatitis (AD) in infants, opening the door for personalized treatment approaches for young children with eczema.

23 Sep 2016

Researchers identify mutant traits in mouse for many human disease genes

About one-third of all genes in the mammalian genome are essential for life. An international, multi-institutional research collaboration identified, for the first time, mutant traits in the mouse for 52 human disease genes, which significantly contributes to the understanding of the genetic bases for some human diseases, including cardiovascular defects, spina bifida, and metabolic disorders, among many others. The study was published this week in Nature.

19 Sep 2016

Research seeks to improve nutritional and milling quality of new oat varieties

Most of the oats American milling companies use comes from Canada—that's something South Dakota State University oats breeder Melanie Caffé-Treml wants to change. Her research seeks to increase the quality of locally-grown oats.

15 Sep 2016

Scientists reveal underlying mechanisms leading to microcephaly in NBS patients

Scientists from Jerusalem and Duesseldorf have succeeded in generating induced pluripotent stem cells from a rare disorder called Nijmegen breakage syndrome (NBS) and to push these cells to become early neurons, revealing the mechanisms leading to the neurological phenotype observed in these patients.

9 Sep 2016

Experimental co-culture approach facilitates study of cellular events underlying Huntington's disease

Using an experimental co-culture approach in which two different types of neurons from a mouse model of Huntington's disease (HD) are grown side-by-side, connecting to form critically impacted circuits, researchers at University of California San Diego School of Medicine have identified a subunit of a protein that, when expressed, reverse the mutated gene effects responsible for HD.

6 Sep 2016