Diagnosing genetic conditions by analyzing your face

From Science Daily:

The general public easily recognises the faces of people with Down’s syndrome, but there are over 700 genetic conditions where there are characteristic facial features: the eyes may be set further apart than usual, the nose shorter and the ears set lower down on the head along with many other possible permutations.

Clinical geneticists are using non-invasive 3D photography and novel analysis techniques are set to make the facial recognition easier.

Professor Peter Hammond from the UCL Institute of Child Health has developed new computer software that compares the faces of undiagnosed children with those with a diagnosed condition that also affects the development of their face, with a 90 per cent success rate...extensive collections of 3D face images of children and adults with the same genetic condition had to be gathered, as well as controls or individuals with no known genetic condition. Each image contains 25,000 or so points on a face surface capturing even the most subtle contours in 3D. The images are then converted to a compact form that requires only a 100 or so numeric values to represent each face in the subsequent analysis.

A great way to narrow down the number of different genetic screening tests to run: Once the software has narrowed down conditions with similar facial features, molecular testing can then be used to confirm the diagnosis.

Psychiatric Genomics Center

From ScienceDaily:

Cold Spring Harbor Laboratory (CSHL) has received one of the largest gifts in its history from Theodore and Vada Stanley to establish the Stanley Center for psychiatric Genomics on its Long Island campus. The goal of the Center is to unambiguously diagnose patients with psychiatric disorders based on their DNA sequence in 10 years time.

With a $25 million gift from the Stanley Medical Research Institute, I hope they are successful. Unfortunately, since current beliefs about psychiatric disorders includes both genetic as well as environmental/situational components, I don't know how unambiguous a diagnosis can be, unless they find some way to determine which DNA sequences become activated by stress or other factors.

Genetics in the news, 3 studies

1. Human migration traced by mutations in maternal genes


From wired:

Researchers collected mitochondrial DNA, or mtDNA, from nearly 80,000 people, who received a report on how their ancestors came to live where they live.
[They gathered this information into a database, called The Genographic Project].

The database is the tip of the iceberg for a burgeoning field of science called genetic anthropology, which involves combining DNA data with physical evidence and histories of past civilizations. The database contains more samples than in any previous collection of its kind. As scientists study it further, they expect a detailed history of human migration in Europe will emerge.

This database and publication is freely available at PLoS (a peer-reviewed open-access journal published by the Public Library of Science) today.

2. Alcohol abuse risk is genetic
From physorg:

According to a study by the research group "Alcoholism and drug addiction", of the University of Granada (Universidad de Granada), although there are no specific reasons to become an alcoholic, many social, family, environmental, and genetic factors may contribute to its development. Thanks to this study, researchers have shown that the lack of endorphin is hereditary, and thus that there is a genetic predisposition to become addicted to alcohol.

They found that beta-endorphin levels of chronic alcoholics is lower than that of the general population. They determined that low beta-endorphin levels are associated with higher likelihood of alcohol addiction, and that the beta-endorphin levels are pre-set by birth.

3. Breast cancer development and prognosis is genetic
Also from physorg:

The chances of developing breast cancer are to some extent inherited, but important new findings suggest survival also runs in the family. Research published in the online journal Breast Cancer Research suggests that if a woman succumbs to breast cancer her daughters or sisters are over 60 percent more likely to die within five years if they develop the disease.

Coming soon? Baby formula to keep your child forever slim

Wow. This feels like the 'slim' culture is going too far. However, they justify this as a way of preventing diabetes, and other obesity related health complications.

"Science Daily — Infant formula and other baby foods that provide permanent protection from obesity and diabetes into adulthood could be on shop shelves soon, reports Lisa Melton in Chemistry & Industry, the magazine of the SCI. "

They plan to do this by adding leptin, a hunger hormone to foods.

"Those who take the foods early in life should remain permanently slim. 'Like those people who are lean by nature even though they overeat ? like we all do -- they will tend to be inefficient in terms of using energy,' says Mike Cawthorne, who heads the Metabolic Research group at Clore."

Apparently, it does not work as well in adults because adjust and cancel out leptin's affects. But,

"Providing leptin earlier enough effectively hard-wires the body's energy balance. In fact, whether one is fat or thin may be determined before birth. Feeding the hormone to pregnant rats has been found to have a lifelong impact on their offspring's predisposition to obesity. Animals born of leptin-treated mothers remain lean even when fed a fat-laden diet, while those from untreated dams gained weight and developed diabetes."

We all had better hope that there's no famine any time soon, or all these 'permanently slim' inefficient energy users may starve and die out.

http://www.sciencedaily.com/releases/2007/04/070423080517.htm

A blood test for panic disorder

Researchers at the University of Iowa are now developing a blood test for commercial use that will examine the genetic expression of immature white blood cells to detect panic disorder.

How they came up with this: "The team compared gene expression in lymphoblasts (immature white blood cells) culled from 16 participants with panic disorder and 17 participants without the disorder. The study found many genes were more expressed in people with panic disorder than in people without the condition. Similarly, the study found many genes were less expressed in people with panic disorder. There were also sex-related differences.
Overall, people with panic disorder had noticeably different patterns of gene expression than people without the disorder. Although panic disorder is a disease of brain cells, the study used lymphoblasts as "stand-ins" for the genetic testing because brain cells are not accessible or easily tested. "

Seems like an awfully small sample size, and there could be so many other confounding factors.

How will the information be used? The hope is that you could use this information to train and treat people with a predisposition for panic disorder to better manage and cope with it. The fear is that it could be used to deny people jobs, health coverage, or even social standing. Gattaca is closer than we think.

http://www.sciencedaily.com/releases/2007/03/070306101139.htm

Genes, stressed out parents, and shy kids?

Seems like a strange connection, but "New research from the Child Development Laboratory at the University of Maryland shows that shyness in kids could relate to the manner in which a stress-related gene in children interacts with being raised by stressed-out parents."

"Like all genes, the particular serotonin-related gene examined in this study has 2 alleles, which can be long or short. The protein produced by the short form of the gene is known to predispose towards some forms of stress sensitivity.
Fox's research found that among children exposed to a mother's stress, it was only those who also inherited the short forms of the gene who showed consistently shy behavior.
"If you have two short alleles of this serotonin gene, but your mom is not stressed, you will be no more shy than your peers as a school age child," says Fox. "But we found that when stress enters the picture, the gene starts to show a strong relationship to the child's behavior," says Fox. "If you are raised in a stressful environment, and you inherit the short form of the gene, there is a higher likelihood that you will be fearful, anxious or depressed.""

This is a nice description of the interplay between genetics and environment. Both parts need to be present for a particular effect to manifest.

Clinical implications: Yet another argument for medicating psychiatric illnesses when people are undecided. This is especially true for post partum depression, when new moms have an episode of major depression shortly after childbrith (within the first month). Some worry about medicating women who are breastfeeding because of risks of antidepressant exposure via breastmilk to the infants, but research (including this study) supports that babies do better psychologically and developmentally when moms are not depressed, and are better able to bond, and attend to their infants.

http://www.sciencedaily.com/releases/2007/03/070302111100.htm

Animal Pharms for growing drugs

I wonder what happens if these animals escape? Makes me think about The Secret of NIMH.

Pharming: "...several companies worldwide perfecting the art of "pharming" -- genetically modifying animals to churn out drugs for disorders like hemophilia and cancer."

How they do it: "It involves genetic modification of an animal embryo's genetic makeup, or genome. Just after fertilization, "pharmers" insert into the embryo a human gene that codes for a particular protein -- usually one that's produced naturally in humans, but that's lacking in people who have certain diseases. They attach that DNA code with a gene that codes for a sugar found in mammalian milk, insuring that the therapeutic protein will be expressed only in the animals' milk or eggs."

http://www.wired.com/news/technology/medtech/0,72708-0.html?tw=rss.index