Agency: Department of Health and Human Services | Branch: | Program: SBIR | Phase: Phase II | Award Amount: 99.17K | Year: 2000
Agency: Department of Health and Human Services | Branch: | Program: SBIR | Phase: Phase I | Award Amount: 98.52K | Year: 2002
DESCRIPTION (provided by applicant): X-linked adrenoleukodystrophy is a neurodegenerative disorder that is characterized by both an aggressive cerebral form that suddenly strikes in childhood and by a milder adult form that presents primarily as a distal axonopathy. The primary genetic defect is identical in both forms and it has a frequency of 1:21,000 males. All patients with the disorder have elevated levels of levels of very long chain fatty acids. The purpose of this study is to develop a newborn screening assay to detect the disorder. Early identification of the patients will allow them to be treated and will enable patients with the severe cerebral form to either avoid it or delay its progression. Because total very long chain fatty acid analysis has inherent contamination problems, this study will take the novel approach of determining fatty acid changes in one lipid fraction, sphingomyelin. The first aim will focus on developing and optimizing a tandem mass spectrometry assay for sphingomyelins. The second aim will focus on its application to whole blood samples. Finally, the last aim will aim at differentiating normal individuals from X-linked adrenoleukodystrophy patients. The proposed approach of sampling from a large lipid pool represents a new means to study diseases.
Agency: Department of Health and Human Services | Branch: | Program: SBIR | Phase: Phase II | Award Amount: 99.17K | Year: 2001
DESCRIPTION: (Adapted from applicant's abstract): The feasibility of screening borns for hearing impairmflent in an assay paralleling routine metabolic screening will be demonstrated. Hearing loss owing to heredity factors and cytomegalovirus are analyzed. DNA from the universally collected newborn filter paper blood card serves as the source of nucleic acids to perform the assay. Several target sequences in the cytomegalovirus genome will be evaluated for their utility to identify viral DNA in the newborn specimen. The following mutations in connexin 26, Pendrin, and connexin 31 genes serve as model systems for hereditary hearing loss: (1) connexin 26 35 del G, 167 del T, .Usher2A 23l4delG; (2) Pendrin L236S, T416P; Mitochondrial A1555G. Amplicons that are diagnostic for CMV DNA and the described mutations are analyzed using a low-density oligonucleotide inicroarray in a multiplex format. The microarray vjfl clearly distinguish homozygous wild type, heterozygotes, and homozygous mutants for the described mutations. Screening for hearing impairment in a laboratory-based program, parallel to auditory screening, will provide an overall superior screening service. The lab assay will identify many newborns that would be missed where auditory screening is not available. PROPOSED COMMERCIAL APPLICATION: NOT AVAILABLE
Agency: Department of Health and Human Services | Branch: | Program: SBIR | Phase: Phase I | Award Amount: 84.67K | Year: 1997
DESCRIPTION: (adapted from the applicant's abstract) Although the cost effectiveness of screening with filter paper dried blood spots (DBS) has been recognized all over the world in new born screening programs, the methodology has not been applied to screening other age groups. Even for tests such as TSH which can be used to detect hypothyroidism in adults as well as newborns, the newborn screening programs do not include adult samples in their protocols because of large age related differences in hormone levels. Other tests useful for screening adults are not used in newborn screening programs. The investigators propose to develop an adult screening program using DBS to allow early identification of treatable diseases such as primary hypothyroidism that are often misdiagnosed or not recognized because of nonspecific symptoms. A TSH assay will be adapted to detect hypothyroidism in adults, and the assay will be validated with parallel collection of serum and DBS from 200 patients. Normal values for DBS samples will be determined for different age groups. An assay for thyroid peroxidase antibody will be adapted for use with DBS, and its application as a screening assay for hypothyroidism in women during the first four months postpartum investigated. Additional DBS assays will be developed in Phase II. $ = TOTAL AWARD AMTS & NOT LIMITED TO PORTION OF PROJECT RELATED TO SUBJECT OF SEARCH SUBPROJECT $ = TOTAL AWARD AMOUNT DIVIDED BY NUMBER OF SUBPROJECTS SOURCE: CRISP FORMAT F FY 97 LAST UPDATE 04-07-98 1QUERY 1536 ID SEARCH 06/01/98 PAGE 280 --PROJECT NUMBER......1 R43 DK53679-01 INVESTIGATOR NAME/ADDRESS FY 97 GUBERSKI, DENNIS L IRG/INTRAMURAL UNIT..ZRG3 BIOMEDICAL RES MODELS INC AWARD AMOUNT......... $99,904 12 NANCY DRIVE RUTLAND, MA 01543-1717 PERFORMING ORGANIZATION: BIOMEDICAL RESEARCH MODELS, INC. TITLE NEW RAT MODEL OF OBESITY AND TYPE II DIABETES ABSTRACT: Non-Insulin Dependent Diabetes Mellitus (NIDDM) is estimated to affect 14.5 million people in the US. Complications of diabetes impair the longevity and quality of life, and include heart disease, stroke, retinopathy, neuropathy and nephropathy. In 1992 the estimated total cost of diabetes in the U.S. exceeded $90 Billion. This proposal presents plans for the development of a new animal model of human obesity and NIDDM. The BBZDR/Wor rat will provide the research community with a superb model with which to study the pathogenesis, prevention, complications and therapy of human diabetes. Starting with the BBZDP/Wor rat model of obesity and autoimmunity, we will employ classical genetic techniques to eliminate autoimmune features, and produce animals with a predictable frequency of obesity, impaired glucose tolerance and diabetes. We will evaluate testosterone injections/implantable pellets as a strategy for male fertility enhancement, a key requirement for efficient and commercial breeding efforts. It is our expectation that this new model of NIDDM will increase our knowledge of the most common type of human diabetes and expedite the development of safe and effective pharmaceutical agents for the treatment of this important human disease.
Agency: Department of Health and Human Services | Branch: | Program: SBIR | Phase: Phase II | Award Amount: 759.00K | Year: 1998