Dataset Information

Gaucher disease: Progress and ongoing challenges.

ABSTRACT: Over the past decades, tremendous progress has been made in the field of Gaucher disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase. Many of the colossal achievements took place during the course of the sixty-year tenure of Dr. Roscoe Brady at the National Institutes of Health. These include the recognition of the enzymatic defect involved, the isolation and characterization of the protein, the localization and characterization of the gene and its nearby pseudogene, as well as the identification of the first mutant alleles in patients. The first treatment for Gaucher disease, enzyme replacement therapy, was conceived of, developed and tested at the Clinical Center of the National Institutes of Health. Advances including recombinant production of the enzyme, the development of mouse models, pioneering gene therapy experiments, high throughput screens of small molecules and the generation of induced pluripotent stem cell models have all helped to catapult research in Gaucher disease into the twenty-first century. The appreciation that mutations in the glucocerebrosidase gene are an important risk factor for parkinsonism further expands the impact of this work. However, major challenges still remain, some of which are described here, that will provide opportunities, excitement and discovery for the next generations of Gaucher investigators.

SUBMITTER: Mistry PK

PROVIDER: S-EPMC5425955 | biostudies-literature | 2017 Jan - Feb

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Gaucher disease: Progress and ongoing challenges.

Mistry Pramod K PK Lopez Grisel G Schiffmann Raphael R Barton Norman W NW Weinreb Neal J NJ Sidransky Ellen E

Molecular genetics and metabolism 20161117 1-2

Over the past decades, tremendous progress has been made in the field of Gaucher disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase. Many of the colossal achievements took place during the course of the sixty-year tenure of Dr. Roscoe Brady at the National Institutes of Health. These include the recognition of the enzymatic defect involved, the isolation and characterization of the protein, the localization and characterization of the gene and its nearby pseudogene, as ...[more]

PMID: 27916601

Similar Datasets

Project description:Diverticular disease of the colon (DDC) includes a spectrum of conditions from asymptomatic diverticulosis to symptomatic uncomplicated diverticulosis, segmental colitis associated with diverticulosis, and acute diverticulitis without or with complications that may have serious consequences. Clinical and scientific interest in DDC is increasing because of the rising incidence of all conditions within the DDC spectrum, a better, although still limited understanding of the pathogenic mechanisms involved; the increasing socioeconomic burden; and the new therapeutic options being tested. The goals of treatment in DDC are symptom and inflammation relief and preventing disease progression or recurrence. The basis for preventing disease progression remains a high-fiber diet and physical exercise, although evidence is poor. Other current strategies do not meet expectations or lack a solid mechanistic foundation; these strategies include modulation of gut microbiota or dysbiosis with rifaximin or probiotics, or using mesalazine for low-grade inflammation in uncomplicated symptomatic diverticulosis. Most acute diverticulitis is uncomplicated, and the trend is to avoid hospitalization and unnecessary antibiotic therapy, but patients with comorbidities, sepsis, or immunodeficiency should receive broad spectrum and appropriate antibiotics. Complicated acute diverticulitis may require interventional radiology or surgery, although the best surgical approach (open versus laparoscopic) remains a matter of discussion. Prevention of acute diverticulitis recurrence remains undefined, as do therapeutic strategies. Mesalazine with or without probiotics has failed to prevent diverticulitis recurrence, whereas new studies are needed to validate preliminary positive results with rifaximin. Surgery is another option, but the number of acute events cannot guide this indication. We need to identify risk factors and disease progression or recurrence mechanisms to implement appropriate preventive strategies.

Dataset Information

Gaucher disease: Progress and ongoing challenges.

Publications

Gaucher disease: Progress and ongoing challenges.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets