Rett Syndrome

(Baltimore, MD) -- Kennedy Krieger Institute will join the National Organization for Rare Disorders (NORD) and others around the world in observing Rare Disease Day on February 29. The purpose is to focus attention on the needs of patients and families affected by rare diseases.

"This is a global observance," said Peter L. Saltonstall, president and CEO of NORD. "Individuals and organizations around the world will all be sharing stories of how rare diseases affect their lives."

The challenges of living with a rare disease, he said, include:

Since the late Dr. Andreas Rett first identified the syndrome that bears his name more than 50 years ago, doctors have learned to treat the seizures, reflux and other symptoms of the disorder but they have not yet learned to alleviate the neurological impairment it causes. Researchers at Kennedy Krieger will begin a new drug trial this summer that represents an important step toward achieving that goal.

Loss of bone density is a concern commonly associated with the elderly, for whom a simple stumble can easily result in a painful, debilitating fracture. But a variety of other conditions can make low bone density a lifetime challenge, one best addressed as early as possible.

(Baltimore, MD) Kennedy Krieger Institute will be joining the National Organization for Rare Disorders (NORD) and others around the world in observing World Rare Disease Day on February 28, 2011. On this day, millions of patients and their families will share their stories to focus a spotlight on rare diseases as an important global public health concern.

(Baltimore, MD) - An international collaboration of scientists has completed the first comprehensive analysis on the clinical effects of the genetic mutations involved in Rett Syndrome, a severe childhood neurological disorder on the autism spectrum caused by mutations in the gene MECP2. The current study, published in the March edition of Neurology, confirms and expands researchers' understanding of the distinctive clinical presentation of specific mutations in Rett syndrome.

(Baltimore, MD) - Gene mutations that are responsible for the majority (seventy to eighty percent) of cases of Rett syndrome (RTT) in females are not always lethal in males prior to birth, refuting previous assumptions, and can occur sporadically in infant males without a family history of the disorder. A study published in the journal Neurology reports four sporadic occurrences of MECP2 gene mutations in infant males with progressive encephalopathy.

Are your genes turned on?

When scientists began The Human Genome Project in the early 1990s, their hope was to discover and interpret the entire blueprint for life, to decode not only how the human body is put together, but also to find the genetic cause and cure for every disease. Imagine their surprise when they discovered not the anticipated 100,000 genes, but rather 20,000 genes making up the human genome—about the same as that of fish and mice, and less than many plants!