Joubert Syndrome is a rare, autosomal recessive disorder that affects the cerebellum and brain stem. It presents with a distinct respiratory pattern and profound tachypnea in the newborn period.

In humans, inositol polyphosphate 5-phosphatase (INPP5E) is mutated in one form of Joubert syndrome, a ciliopathy. INPP5E is enriched in the ciliary axoneme, and in fibroblasts from patients with ...

Learn more online at shareagift.org. Asher is a patient at Children’s Hospital Colorado with Joubert Syndrome, a rare disease affecting brain development. (Photo courtesy: Children’s Hospital ...

Connell School of Nursing Professor Ann Wolbert Burgess received a phone call at her Boston College office in 1978 that would alter the course of her career and lead to a seismic shift in the practice ...

Overcoming imposter syndrome involves changing a person's mindset about their own abilities. Imposters feel like they don’t belong, so acknowledging their expertise and accomplishments is key ...

Marfan syndrome is an inherited, or genetic, disease that affects your body's connective tissue, which gives strength, support, and elasticity to tendons, cartilage, heart valves, blood vessels ...

Asperger's syndrome refers to a high-functioning form of autism. Although it was once classified as its own condition, Asperger’s is no longer an official diagnosis in the Diagnostic and ...

Céline Dion's health has worried fans ever since she announced that she was diagnosed with stiff person syndrome, a rare neurological disorder, in 2022. The legendary pop icon had to cancel all ...

If you've been diagnosed with metabolic syndrome, or are worried you might have it, here are some questions to ask your doctor. The best treatment for metabolic syndrome rests with you.

What awards has Joseph Joubert been nominated for? Joseph Joubert has been nominated for the following awards: Outstanding Orchestrations at the Outer Critics Circle Awards for Carmen Jones ...

Pathogenic activating point mutations in the LRRK2 kinase cause autosomal-dominant familial Parkinsońs disease (PD). In cultured cells, mutant LRRK2 causes a deficit in de novo cilia formation and ...

The striking hyperpnea in infants with Joubert syndrome sets it apart from other conditions and often leads to a misdiagnosis of TTNB. Any infant in the newborn period who exhibits excessive ...