Rett Syndrome

Kennedy Krieger Institute to Observe Rare Disease Day

February 13, 2012

(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:

Research Frontiers: Mind Block

Courtney
McGrath
Study Probes Whether Drug Can Ease Neurological Decline Tied to Rett syndrome

Dr. SakkuBai NaiduSince 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.

Building Stronger Bones

Courtney
Jolley
Osteogenesis Imperfecta Clinic extends services to children with a variety of conditions

Logan Insley with Dr. ShapiroLoss 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.

Millions Around World To Observe Rare Disease Day

January 14, 2011
World Rare Disease Day on February 28, 2011

(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.

First Comprehensive Genetic Analysis of Rett Syndrome Reveals Relationship Between Gene Mutations and Symptom Severity

Lorem
Ipsum
March 10, 2008
International team conducts largest-ever study examining clinical features of symptoms

(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.

Gene Mutations Responsible For Rett Syndrome In Females Present Sporadically in Males

July 13, 2006
International study refutes prior theory that faulty gene leads to in utero death in males

(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.

The Study of Epigenetics

Martie
Callaghan

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!

Rett Syndrome

To find patient care programs and faculty treating Rett Syndrome at Kennedy Krieger Institute, as well as research investigating this disorder, please see the right-hand column below. Additional helpful information, including definitions, symptoms, Institute press releases, Potential magazine articles, and other resources outside the Institute, have also been provided for readers on this page.

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