Biennial and Annual Report on the Rare Diseases Research Activities at the National Institutes of Health FY 2004


a-1 alpha-one
AA aplastic anemia
AAMDSIF Aplastic Anemia & MDS International Foundation
AAT α1-antitrypsin,
AATD α1-antitrypsin deficiency
ABPA allergic bronchopulmonary aspergillosis
ACCESS A Case Control Etiologic Study of Sarcoidosis (NHLBI)
ACMG American College of Medical Genetics
ADCC Autoimmune Diseases Coordinating Committee
ADHD attention deficit hyperactivity disorder
AFSP American Foundation for Suicide Prevention
AGS Alagille syndrome
ALD adrenoleukodystrophy (NLM)
ALL (childhood) acute lymphoblastic leukemia
ALPS autoimmune lymphoproliferative syndrome
ALS amyotrophic lateral sclerosis
A/M anophthalmia/microphthalmia
APS antiphospholipid syndrome
ARDS acute respiratory distress syndrome
ARND alcohol-related neurodevelopmental disorder
ARVD arrhythmogenic right ventricular dysplasia
AS Angelman syndrome
ASCUS atypical squamous cells of undetermined significance
ASF Angelman Syndrome Foundation
ASPS advanced sleep phase syndrome
AT ataxia telangiectasia
BAA broad agency announcement (NHLBI)
BBS Bardet-Biedl syndrome
BDNF brain-derived neurotrophic factor
BE Barrett’s esophagus
BH4 tetrahydrobiopterin
BIBIN bilirubin-induced brain injury in the newborn
BLM human gene encoding Bloom syndrome
BN bulimia nervosa
BPD bronchopulmonary dysplasia
BS Bloom syndrome
BSE bovine spongiform encephalopathy
CAG (triplet repeat) nucleotides (CAG) consecutively repeated within a region of DNA
CAM complementary and alternative medicine
CASG Collaborative Antiviral Study Group
CASPAR computerized affected sibling pair analyzer and reporter
CBV coxsackie virus B
CC Warren Grant Magnuson Clinical Center, NIH
CCHS congenital central hypoventilation syndrome
CDC Centers for Disease Control and Prevention
CDG congenital disorders of glycosylation
CDH congenital diaphragmatic hernia
CF cystic fibrosis
CFS chronic fatigue syndrome
CFTR cystic fibrosis (CF) transmembrane conductance regulator
CGD chronic granulomatous disease
CHD coronary heart disease
CHID Combined Health Information Database
CHOP Children's Hospital of Philadelphia
CIN cervical intraepithelial neoplasia
CJD Creutzfeldt-Jakob disease
CLL chronic lymphocytic leukemia
CL/P cleft lip and cleft palate
CMV congenital cytomegalovirus
CNS central nervous system
COPD chronic obstructive pulmonary disease
CRADA cooperative research and development agreement
CRC clinical research center
CRD cannabis-related disorder
CRF corticotropin-releasing factor
CS Cockayne syndrome
CVB3 Cocksackie virus B3
CWD chronic wasting disease
DCIPS Developing Centers on Interventions for the Prevention of Suicide (NIMH)
DDG Drug Development Group (NIH)
DeNOVO delivery of NO for vaso-occlusion (clinical trial title)
DHHS Department of Health and Human Services
DMAC disseminated infection with mycobacterium avium complex
DNA deoxyribonucleic acid
DOE Department of Energy
DSRCT desmoplastic small round-cell tumor
DTCC Data and Technology Coordinating Center
EB epidermolysis bullosa, severe blistering skin diseases
EBV Epstein-Barr virus
ECMO extracorporeal membrane oxygenation
EDS Ehlers-Danlos syndrome
ES Ewing’s sarcoma
FA Fanconi anemia
FAS fetal alcohol syndrome
FASD fetal alcohol spectrum disorders
FBN1 fibrillin 1
FDA Food and Drug Administration
FENIB familial encephalopathy with neuronal inclusion bodies
FGFR3 fibroblast growth factor receptor 3
FH familial hypercholesterolemia
FHBL familial hypobetalipoproteinemia
FMR1 fragile X mental retardation gene
FRDA Friedreich ataxia
FRX fragile X syndrome
FSHD facio-scapulo-humeral dystrophy
GCPS Greig cephalopolysyndactyly syndrome
GCRC General Clinical Research Center (NCRR)
GHR Genetics Home Reference (NLM)
GLP good laboratory practice
GMP good manufacturing practice
GPS Gray platelet syndrome
HAART highly active anti-retroviral therapy
HbF fetal hemoglobin
HD Huntington disease
HDL high-density lipoprotein
HEV hepatitis E virus
HGP human genome project
HGPS Hutchinson-Gilford progeria syndrome
Hh hedgehog (signaling pathway)
HHT hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease)
HHV-8 human herpesvirus 8
HIBM hereditary inclusion body myopathy
hIPF hereditary idiopathic pulmonary fibrosis
HIV/AIDS human immunodeficiency virus/acquired immune deficiency syndrome
HPP health partnership program (NIAMS)
HPT-JT hyperparathyroidism-jaw tumor (syndrome)
HPV human papillomavirus
HRSA Health Resources and Services Administration
HTLV human T cell leukemia virus
IBMFS&C idiopathic bone marrow failure states and cytopenias
IBS irritable bowel syndrome
ICBG International Cooperative Biodiversity Groups (NHLBI)
ICs (NIH) institutes and centers
IDDM insulin-dependent diabetes mellitus
IFN interferon
IGFs insulin-like growth factors
IL interleukin
IND investigational new drug
IPF idiopathic pulmonary fibrosis
IRSA International Rett Syndrome Association
ISIS Imaging Science and Information Systems Center (NLM)
JDRF Juvenile Diabetes Research Foundation International
JRA juvenile rheumatoid arthritis
KTWS Klippel-Trenaunay-Weber syndrome
LAM lymphangioleiomyomatosis
LDL low-density lipoprotein
LMNA lamin A (gene)
LQTS long QT syndrome
LVAD left ventricular assist device
mAB monoclonal antibodies
MADGC Multiple Autoimmune Diseases Genetics Consortium
MALD mapping by admixture linkage disequilibrium
MATT Methamphetamine Addiction Treatment Think Tank (NIDA)
MCA/MR multiple congenital anomaly/mental retardation
MD-CARE P.L. 107-84, Muscular Dystrophy Community Assistance, Research, and Education Amendments of 2001
MDCC Muscular Dystrophy Coordinating Committee
MDS myelodysplastic syndrome
MDA Muscular Dystrophy Association
MDD Medications Development Division (NIDA)
MDMA Methylene-dioxy-meth-amphetamine (ecstasy)
MEN1 multiple endocrine neoplasia type 1
MHC major histocompatibility complex
MKS McKusick-Kaufman syndrome
MMP matrix metalloproteinase
MOU Memorandum of Understanding
MPD myeloproliferative disease
MR4 Malaria Research and Reference Reagent Resource (Center)
MS multiple sclerosis
MSC mesenchymal stem cell
MSH Multicenter Study of Hydroxyurea
MTA material transfer agreement
NBLs National Biocontainment Laboratories
NBN National Biospecimen Network
NBTT New Approaches to Brain Tumor Therapy Consortium (NCI)
NCBI National Center for Biotechnology Information
NCCAM National Center for Complementary and Alternative Medicine
NCI National Cancer Institute
NCL neuronal ceroid lipofuscinosis (Batten disease)
NCMHD National Center on Minority Health and Health Disparities (Office of the Director, NIH)
NCRR National Center for Research Resources
NCS National Children’s Study
NDA new drug application
ND-BD non-dementing brain disorders
NEI National Eye Institute
NF1 neurofibromatosis type 1
NF-kappaB nuclear factor kappaB
NGI next generation Internet
NHGRI National Human Genome Research Institute
NHL non-Hodgkin lymphoma
NHLBI National Heart, Lung, and Blood Institute
NIA National Institute on Aging
NIAAA National Institute on Alcohol Abuse and Alcoholism
NIAID National Institute of Allergy and Infectious Disease
NIAMS National Institute of Arthritis and Musculoskeletal and Skin Diseases
NICHD National Institute of Child Health and Human Development
NIDA National Institute on Drug Abuse
NIDCD National Institute of Deafness and Other Communication Disorders
NIDCR National Institute of Dental and Craniofacial Research
NIDDK National Institute of Diabetes and Digestive and Kidney Diseases
NIEHS National Institute of Environmental Health Sciences
NIH National Institutes of Health
NIMH National Institute of Mental Health
NINDS National Institute of Neurological Disorders and Stroke
NINR National Institute of Nursing Research
NLM National Library of Medicine
NNFF National Neurofibromatosis Foundation
NO nitric oxide
NOMID neonatal onset multisystem inflammatory disease
NPA Niemann-Pick type A disease
NPB Niemann-Pick type B disease
NPC Niemann-Pick type C disease
NPD Niemann-Pick type D disease
OA osteoarthritis
OCRL oculo-cerebro-renal syndrome (Lowe syndrome, LS)
ODS Office of Dietary Supplements (Office of the Director, NIH)
OI osteogenesis imperfecta
ORD Office of Rare Diseases (Office of the Director, NIH)
ORWH Office of Research on Women's Health (Office of the Director, NIH)
OTP opiate treatment program (NIDA)
PA program announcement
PACT-G Pediatric AIDS Clinical Trial Group
PAP pulmonary alveolar proteinosis
PCD primary ciliary dyskinesia
PCP phencyclidine
PCP pneumocystis carinii pneumonia
PEGT Programs of Excellence in Gene Therapy (NHLBI)
PGA Programs for Genomic Applications (NHLBI)
PHS Pallister-Hall syndrome
PKC protein kinase C
PKU phenylketonuria
PML progressive multifocal leuceoencephalopathy
POF premature ovarian failure
PPH primary pulmonary hypertension
PPHN persistent pulmonary hypertension of the newborn
PTLD post-transplant lymphoproliferative disease
PTS post-traumatic stress syndrome
PWS Prader-Willi syndrome
PXE pseudoxanthoma elasticum
RA rheumatoid arthritis
RAID Rapid Access to Intervention Development Program (NCI)
RBLs regional biocontainment laboratories
RDCRC Rare Disease Clinical Research Consortium
RDCRN Rare Diseases Clinical Research Center Network
REM rapid eye movement (characteristic of deep sleep)
RFA request for applications
RFP request for proposals
RLGS restriction landmark genome scanning
RNA ribonucleic acid
RS Rett syndrome
RTH resistance to thyroid hormone
RTOG Radiation Therapy Oncology Group
RTS Rothmund-Thompson syndrome
SADDAN severe achondroplasia with developmental delay and acanthosis nigricans
SAMHSA Substance Abuse and Mental Health Services Administration
SAGA Sarcoidosis Genetic Analysis Consortium
SARS severe acute respiratory syndrome
SBIR small business innovative research
SCD sickle cell disease
SCD sudden cardiac death
SCID severe combined immunodeficiency disorder
SCOR specialized center of research
SGBS Simpson Golabi Behmel syndrome
SIDS sudden infant death syndrome
SLE systemic lupus erythematosus
SLOS Smith-Lemli-Opitz syndrome
SMA spinal muscular atrophy
SPORE Specialized Program of Research Excellence
SUD substance use disorder
SS sickle cell
SS Sjögren syndrome
SVAS supravalvular aortic stenosis
TB tuberculosis
TCR transcription-coupled repair
TIGR The Institute for Genomic Research
TMAU trimethylaminuria
TMD temporo-mandibular disorders
TMJ temporomandibular joint
TSC tuberous sclerosis complex
TSEs transmissible spongiform encephalopathies
TTP thrombotic thrombocytopenic purpura
UCD urea cycle disorder
UIP usual interstitial pneumonitis
UPD uniparental disomy
UV ultraviolet
VA (Department of ) Veterans Affairs
vCFD variant Creutzfeldt-Jakob disease
VCFS velo-cardio-facial syndrome
VCRN Vasculitis Clinical Research Network
VEG5Q vascular endothelial gene on chromosome 5q
VEGF vascular endothelial growth factor
VLBW very low birth weight
VLDL very low-density lipoprotein
VTUs vaccine treatment and evaluation units
VWD von Willebrand disease
VWF von Willebrand factor
WAS Wiscott-Aldrich syndrome
WNV West Nile virus
WRN defective gene for Werner syndrome
WS Waardenburg Syndrome (NIDCD)
WS Werner syndrome (NIA)
WS1 Wilm’s tumor suppressor
XPD a human DNA repair protein


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Last Reviewed: July 22, 2005