What Problems are Ciliopathies Associated With?
Discussion Nephronophthisis (NPHP) one cause of end-stage renal disease (ESRD) usually occurring before age 30 years. NPHP is a non-motile ciliopathy affecting cellular sensing in the renal tubular epithelium. See To Learn More below. The incidence varies according to location with 1:1 million in the US but 1:50,000 in Finland. There are 3 subtypes: Infantile Occurs usually within 1 year of life Enlarged kidneys and severe hypertension In utero can have oligohydramnios problems such as pulmonary hypoplasia, facial dysmorphisms, limb contractures Extra-renal problems include congenital heart disease, liver fibrosis, recur...
Source: PediatricEducation.org - July 5, 2021 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

What Does the General Pediatrician Do When There Are Concerns for a Rare Disease?
Discussion Bardet-Biedl syndrome (BBS) is a rare disorder. It is usually considered an autosomal recessive disorder but there is significant intra-familial variability. There are multiple genes (~20 currently) involved and it is believed that the phenotypic variability is due to “…differences in the total mutational load across different BBS associated genes….” It is a ciliopathy where mutation changes in proteins in the cilias causes problems in the cilia’s functioning particularly signaling. Cilia are important in signaling to maintain tissue and cellular homeostasis. Obviously screening of ...
Source: PediatricEducation.org - August 19, 2019 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

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 diseas...
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

Joubert Syndrome: Rare Genetic Neurological Disorder
Information regarding Joubert syndrome, a rare form of genetic disorder that affects less than 350 people in the entire world (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