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The 2017 Million Dollar Bike Ride Pilot Grant Program is now open! The MDBR Pilot Grant Program provides a one-year grant to support research related to a rare disease represented in the 2017 Million Dollar Bike Ride. Thirty-three (33) total grant opportunities are listed below. Number of awards and dollar amounts vary per disease based on fundraising totals by each disease team.
http://www.med.upenn.edu/orphandisease/rare-disease-overview.html
RFA Guidelines: http://www.med.upenn.edu/orphandisease/assets/user-content/documents/201...
Research Focus Areas for Pilot Grants:
1) Adrenoleukodystrophy - X-linked metabolic disorder, characterized by progressive neurologic deterioration due to demyelination of the cerebral white matter.
2) Adult Polyglucosan Body Disease - a glycogen storage disease.
3) Ataxia-Telangiectasia - results in neurodegeneration and motor control problems.
4) BPAN- A Neurodegeneration with Brain Iron Accumulation Disorder - rare, X-linked disorder, typically is recognized in early childhood with delayed development and seizures. In adulthood, people with BPAN develop rapidly progressive parkinsonism.
5) Castleman Disease - lymphoproliferative disorders that share common lymph node histological features.
6) CDKL5 - is a gene that provides instructions for making a protein called cyclin-dependent kinase-like 5 also known as serine/threonine kinase 9 (STK9) that is essential for normal brain development with mutations causing deficiencies in the protein level.
7) Congenital Hyperinsulinism -
8) Congenital Muscular Dystrophy (CMD)
9) CRB1 degenerative retinal disease - is a rare disorder causing Leber’s Congenital Amaurosis, Retinitis Pigmentosa RP or Cone Rod Dystrophy.
10) Nonsense Mutations in Cystic Fibrosis
11) Dyskeratosis Congenita & Telomere Biology Disorder - a progressive, genetic condition caused by defects in telomere biology and results in problems in areas with high rates of cell regeneration
12) Fibrous Dysplasia/McCune Albright Syndrome - The mutation results in constitutive activation of the signaling protein, Gsα, and downstream cAMP signaling. Skeletal manifestations include bone pain, fractures, deformity, and osteomalacia/rickets.
13) Generalized Lymphatic Anomaly (GLA; a.k.a. lymphangiomatosis) and Gorham-Stout Disease GSD
14) Glucose Transporter Deficiency Syndrome (Glut 1DS)
15) Lymphangioleiomyomatosis (LAM
16) Mucolipidosis Type IV (ML4)
17) Mucopolysaccharidoses (MPS)
18) Niemann Pick Type C (NPC)
19) Pitt Hopkins Syndrome (PTHS)
20) RASopathies - genetic conditions caused by mutations in genes on the Ras-MAPK pathway.
21) Snyder-Robinson Syndrome - a genetic condition resulting in the dysfunction of Spermine Synthase.
22) Tay-Sachs, Sandhoff, GM-1, or Canavan Disease