Landau-Kleffner syndrome, also called acquired epileptic aphasia, is a disorder of the central nervous system which begins in childhood. Children with the syndrome develop normally until the symptoms begin, usually ... Read More

Researchers at the University of California, San Francisco, examined the health records of more than 5000 African-American women who had babies between 1976 and 2001. Of the women studied, 6.5 ... Read More

April 25, 2007, is National DNA Day in the United States. According to its sponsors, National DNA Day commemorates the completion of the Human Genome Project in April 2003 and ... Read More

Vaccination Week in the Americas, sponsored by the Pan American Health Organization, targets children and other vulnerable and underserved populations with low vaccination coverage rates in all countries in the ... Read More

Carpenter syndrome is a syndrome of genetic birth defects involving the skull and face, fingers and toes, and sometimes the heart. It is a form of ACPS (acrocephalopolysyndactyly), a group ... Read More

The Human Genome Organisation (HUGO) will hold its 12th Human Genome Meeting on May 21-24, 2007, in Montreal, Canada. According to HUGO's Web site, the mission of HGM2007 is to ... Read More

The National Organization for Rare Disorders (NORD) is raising awareness of rare disorders with a poster campaign (see photo at right). NORD hopes increased awareness will encourage research on rare ... Read More

A new weekly electronic publication, Orphan Diseases Drug Development, has been launched by HiTIS life science & biotech intelligence. The e-journal deals with the development of orphan drugs and diagnostics, ... Read More

Cat eye syndrome, named after how it often affects the appearance of the eyes, is caused by a genetic defect in chromosome 22. There is a wide range of symptoms ... Read More

Should all babies be screened for cystic fibrosis, an inherited exocrine disorder? A study published in the April 7, 2007, issue of The Lancet says yes. Researchers from the University ... Read More

The Spastic Paraplegia Foundation will hold its 2007 National Conference and Anniversary Celebration on April 14, 2007, in Nashville, Tennessee. The conference will focus on research about hereditary spastic paraplegia ... Read More

Hereditary angioedema is an inherited deficiency of a blood protein called C1 inhibitor which causes episodes of swelling (edema) in parts of the body. New treatments are being developed for ... Read More

The 12th European Conference on Neurofibromatosis will be held April 26-29, 2007, in Lisbon, Portugal. The theme of the conference is, "Neurofibromatosis - Science and Welfare, the Facts." Scientific sessions ... Read More

On March 30, 2007, the U.S. Food and Drug Administration (FDA) approved Ceprotin, an orphan drug made by Baxter Healthcare, to treat severe congenital Protein C deficiency, a rare genetic ... Read More

CHARGE syndrome is a complex medical syndrome caused by a genetic defect on chromosome 8. It occurs in approximately 1 in 10,000 births worldwide.