High-resolution genomic map gives scientists unprecedented view of brain development
(St. Jude Children's Research Hospital) The research will not only aid basic understanding of brain development, but also provide a foundation for understanding the cellular origins of brain disorders caused by errors in development. These anatomical defects include Joubert syndrome, Dandy-Walker malformation and pontocerebellar hypoplasia. The database will enable future studies tracing the cellular origins of childhood brain tumors such as medulloblastoma, astrocytoma and ependymoma.Researchers worldwide can interact with the data via an interface St. Jude has created called Cell Seek. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - September 13, 2018 Category: Biology Source Type: news

Reid’s story: Living life undiagnosed
Your child is sick. You bring her to the hospital or the doctor, and a few tests later you have a diagnosis. Whether it’s a simple condition or a complex, chronic disease, you now know what to expect. Unless the tests don’t give a straight answer. Maybe they come back with conflicting results. Or some of your child’s symptoms match one condition, the rest another, but don’t strictly match one or the other. What then? This scenario is more common than you might think. Some 30 million Americans suffer from rare disorders, and many never receive a diagnosis. They live in the gray area of undiagnosed di...
Source: Thrive, Children's Hospital Boston - June 3, 2015 Category: Pediatrics Authors: Tom Ulrich Tags: Diseases & conditions Our patients’ stories Manton Center rare disease undiagnosed disease Source Type: news

Joubert Syndrome: Rare Genetic Neurological Disorder
The gene for Joubert Syndrome has not yet been located, although it aggressively being researched. The key relationship between all people with Joubert syndrome is that the part of the brain called the, 'cerebellar vermis,' is either not formed properly, or is missing entirely. The most common features of Joubert syndrome include: (Source: Disabled World)
Source: Disabled World - April 7, 2015 Category: Disability Tags: Neurological Disorders Source Type: news

Little boy wears sunglasses all day because bright light leaves him blinded and in agony
Leo Lake, from Hove, has a rare condition known as Joubert syndrome, which means bright light irritates his eyes so much that he can't see anything at all. (Source: the Mail online | Health)
Source: the Mail online | Health - January 30, 2013 Category: Consumer Health News Source Type: news