New research by Sumeda Nandadasa, Ph.D., reveals how a key protein associated with Meckel-Gruber syndrome, nephronophthisis, ...

New research by Sumeda Nandadasa, PhD, reveals how a key protein associated with Meckel-Gruber syndrome, nephronophthisis, ...

New research by Sumeda Nandadasa, PhD, reveals how a key protein associated with Meckel-Gruber syndrome, nephronophthisis, ...

Jim FessendenUMass Chan Medical SchoolNew research by Sumeda Nandadasa, PhD, reveals how a key protein associated with Meckel-Gruber syndrome ...

Joubert syndrome is a rare disorder characterized by hyperpnea, a subtle facial appearance, and associated eye abnormalities that are seen in the newborn period. Learn how to detect this condition.

Joubert syndrome is a rare autosomal recessive disorder of the cerebellum that occurs in 1 of 100,000 live births. [3,4,5,6,7,8] It was first described in 1969 by Marie Joubert and colleagues, who ...

The Joubert Syndrome Foundation was founded in 1992 by the mother of a child with Joubert syndrome. This foundation has an advisory board of parents and medical professionals.

The Joubert Syndrome Foundation was founded in 1992 by the mother of a child with Joubert syndrome. This foundation has an advisory board of parents and medical professionals. They have a registry of ...

New research by Sumeda Nandadasa, Ph.D., reveals how a key protein associated with Meckel-Gruber syndrome, nephronophthisis, Joubert syndrome and other ciliopathies is cut in half to perform two ...

Feb. 5, 2025 — Irritable bowel syndrome (IBS) is a common digestive disorder with unclear causes, affecting about 10% of the global population.

Burgess said the Joubert case validated the BSU and criminal profiling, which had doubters even within the FBI. “We’d proven that there was value in understanding the criminal mind…to be able to ...