Malonic aciduria

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Grant Name

Malonic aciduria

Funder

National Organization for Rare Disorders

Country or Region

United States

Research Field

Medicine, Neurology (clinical)

Biochemistry, Genetics and Molecular Biology, Molecular Medicine

Grant Size

Up to 50,000 USD

Contact Info

research@rarediseases.org

Eligibility

Mid-Career and Experienced Researchers

Description

NORD, with funding from The Hope Fund, is accepting applications for a total of $50,000, for scientific and/or clinical research studies related to malonyl-CoA decarboxylase deficiency, a rare metabolic condition that prevents the body from converting certain fats to energy. The signs and symptoms of this disorder are variable, but may include delayed development in childhood, hypotonia, seizures, diarrhea, vomiting, metabolic acidosis, hypoglycemia, ketosis, abnormal urinary compounds, lactic academia and hypertrophic cardiomyopathy. This condition is caused by mutations in the malonyl-CoA decarboxylase gene (MLYCD) gene, and is inherited as an autosomal recessive trait. The MCD enzyme is involved in the degradation of malonyl-CoA and it appears that inhibition of fatty acid synthesis as a result of malonyl-CoA accumulation is responsible for at least some of the clinical manifestations of the disorder. This condition is known as malonic aciduria, malonic acidemia, malonyl-coenzyme A decarboxylase deficiency, and MCD deficiency.

Website

https://rarediseases.org/current-funding-opportunity-nord-research-grants-rare-diseases/

Funding resources
Purdue Grant Writing Lab: Introduction to Grant Writing	Open Link
University of Wisconsin Writing Center: Planning and Writing a Grant Proposal	Open Link

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