Undiagnosed Diseases Gene Function Research (R21)

Funding Opportunity RFA-RM-14-005 from the NIH Guide for Grants and Contracts. This Exploratory/Developmental Research Funding Opportunity intends to support gene function studies in collaboration with the Undiagnosed Diseases Network (UDN) building upon the NIH Intramural Research Programs Undiagnosed Diseases Program (NIH-UDP). Responsive applications will propose to investigate the underlying genetics, biochemistry and/or pathophysiology of newly diagnosed diseases in association with the respective gene variant(s) identified through the UDN. In recent years, gene function studies combined with genetic and genomic analyses and metabolic studies have greatly improved diagnoses of these very rare diseases and advanced scientific knowledge of the underlying pathogenesis. This initiative is funded through the NIH Common Fund, which supports cross-cutting programs that are expected to have exceptionally high impact.
Source: NIH Funding Opportunities (Notices, PA, RFA) - Category: Research Source Type: funding

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Bhanu Mishra, Sunil Prakash, Subhash Chandra, Sanjeev Gera, Ashwini Goel, Amit K Yadav, Ganesh Dhanuka, Satendra YadavIndian Journal of Nephrology 2019 29(6):431-432
Source: Indian Journal of Nephrology - Category: Urology & Nephrology Authors: Source Type: research
ConclusionSince only 2 out of 38 SIPs were positive for HPV (type 11), and at the same time p16 was positive in epithelia in all samples and in 37 of 38 papilloma lesions of the samples, it is concluded that p16 cannot be used as a surrogate marker for high-risk HPV-infection in SIP. We are currently planning a prospective, multicenter study in order to increase the study power and in order to be able to better evaluate the clinical implications of HPV-and p16 in SIP.
Source: European Annals of Otorhinolaryngology, Head and Neck Diseases - Category: ENT & OMF Source Type: research
Gene Therapy, Published online: 13 November 2019; doi:10.1038/s41434-019-0110-7A rare disease patient/caregiver perspective on fair pricing and access to gene-based therapies
Source: Gene Therapy - Category: Genetics & Stem Cells Authors: Source Type: research
CONCLUSIONS: SWI indicates accumulation of paramagnetic compounds in the thalamic nuclei in patients with aspartylglucosaminuria. The finding may raise the suspicion of this rare disease in clinical practice.
Source: American Journal of Neuroradiology - Category: Radiology Authors: Tags: PEDIATRICS Source Type: research
F Hu, Y Zhang, Z YiNigerian Journal of Clinical Practice 2019 22(11):1617-1620 Budd–Chiari syndrome (BCS) is a rare disease characterized by obstruction of hepatic venous outflow tract with diversified etiologies. Sea-blue histiocytosis (SBH) is a kind of storage diseases defined by the deposition of abundant sea-blue histiocytes in various organs and can lead to hepatosplenomegaly, cirrhosis, or even liver failure. The association between BCS and SBH has never been reported before. Here, we report a patient with BCS presenting with hepatosplenomegaly, portal hypertension, and pancytopenia who was later confirmed to also have SBH.
Source: Nigerian Journal of Clinical Practice - Category: Rural Health Authors: Source Type: research
We report the case of a 55-year-old diabetic Nigerian woman who presented with typical NL lesions on the lower legs and who responded very well to topical betamethasone dipropionate 0.05% cream. We also briefly review the probable underlying mechanisms leading to the condition and the various treatments that have been found useful.
Source: Nigerian Journal of Clinical Practice - Category: Rural Health Authors: Source Type: research
Hereditary transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly recognized progressive cardiomyopathy with heterogenous clinical manifestations that lead to its misdiagnosis and poor prognosis. Th...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
The phenotypic spectrum of many rare disorders is much wider than previously considered. Mucopolysaccharidosis type III (Sanfilippo syndrome, MPS III), is a lysosomal storage disorder traditionally considered ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Identification of a novel mutation in the thyroid hormone receptor β gene that causes thyroid hormone resistance syndrome: A case report. Mol Med Rep. 2019 Sep 24;: Authors: Wang J, Lv H Abstract Thyroid hormone resistance syndrome is a rare disease in which the level of thyroid hormone is elevated and the level of thyroid stimulating hormone is not suppressed. Mutations in the thyroid hormone receptor β (THRβ) gene are thought to be the primary cause of pathogenesis. In the present study, a Chinese boy of 4 years and 8 months, who had been pre‑diagnosed with resistance to th...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
TAUNTON (CBS) – Flu season is here, and for a Taunton family with two babies battling a rare disease, the months are particularly stressful. From the outside, they appear picture-perfect: Amanda and Billy Bettuchi and their three beautiful kids. But you can’t tell a whole health story just by looking. “It’s Severe Combined Immunodeficiency (SCID), so Shane was born with no immune system at all. They have to go through chemo first for 10 days and then they get the bone marrow transplant after that at three months old,” mom Amanda (Acorn) Bettuchi explained. Sweet Shane, not even a year old, is ...
Source: WBZ-TV - Breaking News, Weather and Sports for Boston, Worcester and New Hampshire - Category: Consumer Health News Authors: Tags: Boston News Health Syndicated CBSN Boston Syndicated Local flu season Juli McDonald Taunton News Source Type: news
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