Jennifer Simpson remembers the telepathic feeling she had two years ago. She was at home in South Glens Falls with her son, Christopher, when she got an overwhelming sense her husband needed her. She told her son to hop in the car and they sped to the mall, where she knew her husband, Ben, was Christmas shopping. When she located him, she ran over, horrified. Ben was staggering through the food court, bracing himself against the wall. People thought he was drunk. Everybody was like staring at him going, Whats wrong with this dude? she recalled. Ben told Jennifer his right leg wouldnt do what his brain told it to. That episode was the first in what would become a devastating downward spiral in his health. Ben has been diagnosed with progressive cerebellar ataxia, a neurological disorder that causes damage or degeneration of the cells in the part of the brain that controls muscle coordination. The deterioration has been swift. In 24 months, the 31-year-old man who once had a passion for martial arts and hiked with his family now weighs under 100 pounds and lies bedridden at The Pines at Glens Falls Nursing & Rehabilitation Center. Bens mind remains … Continue reading →

What is a genetic disease? A genetic disease is any disease that is caused by an abnormality in an individual's genome. The abnormality can range from minuscule to major -- from a discrete mutation in a single base in the DNA of a single gene to a gross chromosome abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. Some genetic disorders are inherited from the parents, while other genetic diseases are caused by acquired changes or mutations in a preexisting gene or group of genes. Mutations occur either randomly or due to some environmental exposure. There are a number of different types of genetic inheritance, including the following four modes: Single gene inheritance, also called Mendelian or monogenetic inheritance. This type of inheritance is caused by changes or mutations that occur in the DNA sequence of a single gene. There are more than 6,000 known single-gene disorders, which occur in about 1 out of every 200 births. These disorders are known as monogenetic disorders (disorders of a single age). Some examples of monogenetic disorders include: Single-gene disorders are inherited in recognizable patterns: autosomal dominant, autosomal recessive, and X-linked. Genetic Disease - Symptoms Question: What were … Continue reading →

PUBLIC RELEASE DATE: 12-Dec-2013 Contact: Jim Ritter jritter@lumc.edu 708-216-2445 Loyola University Health System MAYWOOD, IL. A newly improved internet research tool is helping cancer researchers and physicians make sense out of a deluge of genetic data from nearly 100,000 patients and more than 50,000 mice. The tool, called the Gene Expression Barcode 3.0, is proving to be a vital resource in the new era of personalized medicine, in which cancer treatments are tailored to the genetic makeup of an individual patient's tumor. Significant new improvements in the Gene Expression Barcode 3.0 are reported in the January issue of the journal Nucleic Acids Research, published online ahead of print. Senior author is Michael J. Zilliox of Loyola University Chicago Stritch School of Medicine. Zilliox is co-inventor of the Gene Expression Barcode. "The tool has two main advantages," Zilliox said. "It's fast and it's free." The Gene Expression Barcode is available at a website http://barcode.luhs.org/ designed and hosted by Loyola University Chicago Stritch School of Medicine. The website is receiving 1,600 unique visitors per month. Knowing how a patient's cancer genes are expressed can help a physician devise an individualized treatment. In a tumor cell, for example, certain genes are turned on … Continue reading →