Despite what you might have heard, genetic sequencing alone is not enough to understand human disease. Researchers at Duke University Medical Center have shown that functional tests are absolutely necessary to understand the biological relevance of the results of sequencing studies as they relate to disease, using a suite of diseases known as the ciliopathies which can cause patients to have many different traits.
“Right now the paradigm is to sequence a number of patients and see what may be there in terms of variants,” said Nicholas Katsanis, Ph.D. “The key finding of this study says that this approach is important, but not sufficient. If you really want to be able to penetrate, you must have a robust way to test the functional relevance of mutations you find in patients. For a person at risk of type 2 diabetes, schizophrenia or atherosclerosis, getting their genome sequenced is not enough – you have to functionally interpret the data to get a sense of what might happen to the particular patient.”
“This is the message to people doing medical genomics,” said lead author Erica Davis, Ph.D., Assistant Professor in the Duke Department of Pediatrics, who works in the Duke Center for Human Disease Modeling. “We have to know the extent to which gene variants in question are detrimental – how do they affect individual cells or organs and what is the result on human development or disease? Every patient has his or her own set of genetic variants, and most of these will not be found at sufficient frequency in the general population so that anyone could make a clear medical statement about their case.”
Research is trying to determine whether Alzheimer’s disease might be slowed or prevented with nutritional approaches, but a new study suggests those efforts could be improved by use of nutrient “biomarkers” to objectively assess the nutrient status of elderly people at risk for dementia.
The traditional approach, which primarily relies on self-reported dietary surveys, asks people to remember what they have eaten. Such surveys don’t consider two common problems in elderly populations – the effect that memory impairment has on recall of their diet, or digestive issues that could affect the absorption of nutrients.
This issue is of particular concern, experts say, because age is the primary risk factor for Alzheimer’s disease, and the upcoming wave of baby boomers and people 85 years and older will soon place many more people at risk for dementia.
A University of Manchester scientist has revealed the mechanism that binds skin cells tightly together, which he believes will lead to new treatments for painful and debilitating skin diseases and also lethal heart defects.
Professor David Garrod, in the Faculty of Life Sciences, has found that the glue molecules bind only to similar glue molecules on other cells, making a very tough, resilient structure. Further investigation on why the molecules bind so specifically could lead to the development of clinical applications.
Professor Garrod, whose Medical Research Council-funded work is paper of the week in the Journal of Biological Chemistry (JBC) tomorrow (Friday), said: “Our skin is made up of three different layers, the outermost of which is the epidermis. This layer is only about 1/10th of a millimetre thick yet it is tough enough to protect us from the outside environment and withstand the wear and tear of everyday life.
Thousands of German protesters marched in Berlin on Saturday to demand a change in farming methods and vent their anger at a food scandal in which cancer-causing dioxin was found in some eggs, poultry and pork.
The scandal, caused by contaminated animal feed, has outraged consumers, triggered international health alerts and hit sales of German eggs and meat.
Organizers said 22,000 people took part in the demonstration, entitled “We are sick of it. No to genetic engineering, animal factories and dumping exports.” Onlookers put the turnout at close to 10,000.