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ARCHIVED - Rare Diseases Clinical Research Consortia (RDCRC) for Rare Diseases Clinical Research Network RFA-OD-08-001
Contacts, Submission Dates and Special Interests/Instructions
Release Date: February 8, 2008
Expiration Date: August 21, 2008

ICs Areas of Research Interest and Program and Grants Management Contact Information


National Cancer Institute (NCI)

The NCI seeks clinical research teams studying rare cancers.  Examples include, but are not limited to the following rare cancers: carcinoid, primary CNS-lymphoma, sarcomas, and urinary bladder cancer.

NCI Program Contact:

Elizabeth Read-Connole, Ph.D.
NCI Representative to Office of Rare Diseases Committee
Cancer Etiology Branch,
Division of Cancer Biology
National Cancer Institute, NIH
6130 Executive Plaza North Room 5016
Bethesda, MD 20892-7398
301-496-6085 (phone)
301-496-2025 (Fax)

Grants Management Contact:

Ms. Angela Urdaneta
EPS/ Room 243
6120 Executive Blvd
Rockville, MD 20892-7150

National Heart, Lung and Blood Institute (NHLBI)

The NHLBI is interested in rare diseases and conditions of blood, lung and heart.  Below are some examples only, other rare heart, lung, and blood diseases may also be appropriate. Examples of rare blood diseases: Acquired aplastic anemia, Antiphospholipid syndrome, Creutzfeldt-jakob disease (CJD), Cooley’s Anemia, Fanconi Anemia, Hemophagocytic lymphohistiocytosis, Hemophilia, hereditary hemorrhagic telangiectasia (HHT), heparin-induced thrombocytopenia (HIT), Lymphedema, myelodysplastic syndrome (MDS), myeloproliferative disorders (MPD), paroxysmal nocturnal hemoglobinuria (PNH), Rare Bleeding Disorders, Rare Nutritional Anemias, Rare Thrombotic Disorders, Rare Hemolytic Anemias, Sickle cell disease, Thalassemia, Thrombocytopenias of Different Etiologies, thrombotic thrombocytopenic purpura (TTP). Examples of rare lung diseases:Alpha-1-Antitrypsin deficiency (A1AT), Alveolar proteinosis, Congenital cysts and lobar emphysema, Congenital hypoventilation syndromes, Congenital Lymphangiectasia, Cystic fibrosis (CF), Idiopathic pulmonary arterial hypertension, Idiopathic pulmonary fibrosis (IPF), Lymphangioleiomyomatosis (LAM), Pediatric interstitial lung disease, Primary ciliary dyskinesia (PCD), Sarcoidosis, Surfactant protein deficiencies. Examples of rare heart diseases: Marfan Syndrome , Peripartum Cardiomyopathy , Inherited channelopathies (Long-QT Syndrome, Brugada Syndrome) , Rare Inherited Cardiomyopathies (Arrhythmogenic Right Ventricular Dysplasia) , Hereditary Hemorrhagic Telangectasia (HHT), Supravalvular Aortic Stenosis (SVAS), Klippel-Trenaunay-Weber Syndrome (KTWS).  A list of rare diseases that are relevant to the research mission of the NHLBI can be found at:

Program Contacts:

1) For rare heart diseases:

Sonia I. Skarlatos, Ph.D., FAHA 
Acting Director
Division of Cardiovascular Diseases
NHLBI Gene Therapy Coordinator
National Heart, Lung and Blood Institute
Tel: 301-435-0477
Fax: 301-480-7971


2) For rare lung diseases:

Hannah H. Peavy, M.D.
Division of Lung Diseases
National Heart, Lung, and Blood Institute
6701 Rockledge Drive, Room 10160
Bethesda, MD 20892-7952
Phone: (301) 435-0222
Fax: (301) 480-3557

3) For rare blood diseases:

Andrei L. Kindzelski, M.D., Ph.D.
Medical Officer, Program Director
Division of Blood Diseases and Resources
National Heart, Lung, and Blood Institute
National Institutes of Health
6701 Rockledge Drive, MSC 7950
RKL II Building, Room 9170
Bethesda, MD 20892-7950
Tel 301-402-0658, FAX 301-480-1046

Grants Management Contact:

Robert Vinson, Jr.
Branch Chief, Blood Team
NHLBI, DERA, Office of Grants Management
Rockledge Centre Two, Suite 7044
6701 Rockledge Drive, MSC 7926
Bethesda, Maryland  20892-7926
Telephone:  (301) 435-0169
Facsimile:  (301) 451-5462

National Institute on Aging (NIA)

The NIA seeks to support clinical research in inherited disorders of premature or accelerated aging, including (but not limited to) Werner’s syndrome, Down’s syndrome, and Hutchinson-Guilford Progeria. 

Program Contact:

Susan G. Nayfield, M.D., M.Sc.
Chief, Geriatrics Branch
Geriatrics and Clinical Gerontology Program
National Institute on Aging
7201 Wisconsin Avenue
Gateway Building, Suite 3C-307
Bethesda, MD  20892-9205 
Phone:  (301) 496-6761
Fax:  (301) 402-1784

Grants Management Contact:

Jeff Ball
Grants Management Specialist
Grants & Contracts Management Office
National Institute on Aging (NIA)

National Institute on Alcohol Abuse and Alcoholism (NIAAA)

The NIAAA is interested in alcohol-related rare digestive diseases including liver steatosis, hepatic fibrosis, hepatocellular carcinoma, hepatorenal syndrome, and chronic pancreatitis. Progress in early diagnosis and treatment of these diseases has been limited by a poor understanding of their pathogenesis. Further clinical studies analyzing various risk factors such as diet, patterns of drinking, viral and bacterial infection, as well as genetic and epigenetic factors, are needed to facilitate better and earlier diagnosis and management of each of these diseases.

Program contact:

Svetlana Radaeva, Ph.D.
5635 Fishers Lane, Room 2033
Bethesda, MD 20892-9304
Tel: 301-443-1189
Fax: 301-594-0673

Grants Management contact:

Judy S. Fox
Chief, Grants Management Branch
Chief Grants Management Officer, NIAAA
5635 Fishers Lane, Room 3023, MSC 9304
Bethesda, MD  20892-9304
Rockville, MD  20852-1705

Phone:  301-443-4704
FAX:  301-443-3891

National Institute of Allergy and Infectious Diseases (NIAID)

NIAID research activities on rare diseases are classified into four areas: infectious diseases, primary immunodeficiency diseases, autoimmune diseases, and allergic diseases. NIAID's section of this report highlights the Institute's rare diseases advances and activities.

·         Infectious diseases include diseases caused by bacteria, parasites, viruses, and fungi. Research on rare infectious diseases is aimed at delineating mechanisms of disease pathogenesis and developing more effective diagnostic, treatment, and prevention strategies.

·         Primary immunodeficiency diseases are hereditary disorders caused by intrinsic defects in the cells of the immune system and are characterized by unusual susceptibility to infection. NIAID research is focused on the development of technology to make gene transfer an effective and curative therapy, and on the identification of gene defects and immunologic abnormalities that lead to defective function.

·         Autoimmune diseases are diseases in which the immune system mistakenly attacks and damages the body's own cells and tissues. NIAID research is focused on the identification of mechanisms of pathogenesis and the development of new approaches to prevention and treatment.

·         Allergies are inappropriate or exaggerated reactions of the immune system to substances that cause no symptoms in the majority of people. NIAID research is focused on the development of new approaches for the diagnosis, prevention, and treatment of allergic diseases.

Program Contact:

Josiah Wedgwood MD PhD

Division of Allergy Immunology & Transplantation, NIAID

6610 Rockledge Drive

Room 3019, MSC 6601

Bethesda, MD  20892

(for Federal Express 20817)

Tel.:   301-496-7104

Fax:    301-480-1450


Grants Management Contact:

Victoria Connors
Branch Chief, Grants Management Program, NIAID
6700B Rockledge Drive
Room 2122, MSC 7614
Bethesda, MD 20892-7614
Tel.: 301-402-5601
Fax: 301-493-0597

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Many arthritic, rheumatic, musculoskeletal and skin diseases affecting adults and children that are of importance to NIAMS are considered rare.  NIAMS is interested in supporting research into the causes, treatment and prevention of these rare diseases.

Program Contact: 

James Witter MD, PhD
Medical Officer
National Institute of Arthritis and
Musculoskeletal and Skin Diseases (NIAMS)
National Institutes of Health
6701 Democracy Blvd.  Suite 800
Bethesda, MD 20892-4872
phone: 301-594-1963
fax: 301-480-4543

Grants Management Contact:

Melinda Nelson
Chief Grants Management Officer
National Institute of Arthritis and
Musculoskeletal and Skin Diseases (NIAMS)
National Institutes of Health
6701 Democracy Blvd., Suite 800
Bethesda, MD 20892-4872
Phone: (301) 435-5278
E-Mail: MN23Z@NIH.GOV 

National Institute of Child Health and Human Development (NICHD)

The NICHD conducts and supports research on topics related to health of children, adults, families, and populations.  Many disorders that affect children and their families are rare diseases; NICHD currently supports research in a least 80 rare disorders. Many of those rare diseases have a genetic basis.  NICHD encourages applications in rare disorders, such as metabolic disorders (e.g., urea cycle disorders, amino acidurias, mitochondrial disorders, disorders of cholesterol metabolism, disorders of steroid metabolism), chromosomal syndromic disorders (e.g., Angelman, Prader Willi, Rett, Williams, Smith-Magenis, Cornelia de Lange, DiGeorge, 18q,1q.), storage diseases (e.g., lysosomal storage diseases, gangliosidoses, mucopolysaccharidoses, mucolipidoses, peroxisomal disorders, etc.), muscular dystrophies, sex chromosome disorders (Turner syndrome, Klinefelter syndrome, XXYY, XXXY, XYY), and other X-linked and autosomal disorders. 

Program Contact:

Mary Lou Oster-Granite, Ph. D.
Health Scientist Administrator
Mental Retardation and Developmental Disabilities Branch
Center for Developmental Biology and Perinatal Medicine
National Institute of Child Health and Human Development
National Institutes of Health
Room 4B05L, MSC 7510
6100 Executive Boulevard
Bethesda, MD 20892-7510
Telephone: 301-435-6866
FAX: 301-496-3791

Grants Management Contact:

Bryan S. Clark, M.B.A
Chief Grants Management Officer
Grants Management Branch, NICHD
Room 8A01, MSC 7510
6100 Executive Blvd.

Telephone: 301-435-6971
Fax: 301-402-0915

National Institute of Dental and Craniofacial Research (NIDCR)

The NIDCR is interested in rare oral and craniofacial diseases and disorders. Examples include:

I)                     Rare tumors of head and neck: oral cancer, salivary gland cancers etc.;

II)                   Diseases with associated tooth defects: Amelogenesis imperfecta variants and Dentinogenesis imperfecta variants; Diseases associated with hypodontia (Ectodermal Dysplasias);

III)                  Diseases with associated periodontitis: Hereditary gingival fibromatosis; Periodontitis associated with metabolic, structural or immune protein defects (Papillon-Lefevre syndrome, Cathepsin C mutations, Ehlers–Danlos syndrome type 4, and Ehlers–Danlos syndrome type 8); Periodontitis associated with severe congenital neutropenias; Periodontitis associated with abnormal neutrophil function

Program Contact:

Yasaman Shirazi, Ph.D.
Program Director,
Epithelial Cell Regulation and Transformation Program
Integrative Biology and Infectious Diseases Branch
National Institute of Dental and Craniofacial Research (NIDCR), NIH
6701 Democracy Boulevard, RM: 620
Bethesda, Maryland  20892-4878 (Courier, 20817)
Tel:  301-594-4812
Fax: 301-480-8319

Grants Management Contact:

Mary Daley
Chief, Grants Management Branch
National Institute of Dental and Craniofacial Research
Building 45, Room 4AN 44B
45 Center Drive
Bethesda, MD 20892-6402
Voice: (301) 594-4808
Fax: (301) 480-3562

National Institute of Diabetes and Digestive and kidney Diseases (NIDDK)

The NIDDK supports research on rare diseases and conditions resulting in endocrine, metabolic, digestive, hematologic and kidney disorders.  Below are some examples of rare diseases that may be appropriate. Rare digestive diseases would include liver, pancreas and gastrointestinal diseases. Example of bowel diseases include Inflammatory Bowel Diseases (IBD) in children, including Crohn’s disease, with subphenotypes of small bowel only or colon only disease, ulcerative colitis, with subphenotypes of limited colitis and pan colitis, and patients with indeterminate colitis. Examples of rare metabolic diseases include aminoacidopathies, cystic fibrosis, lysosomal storage diseases, and urea cycle defects.  Examples of rare hematologic and kidney diseases include inherited and acquired systemic amyloidosis, inherited bone marrow failure syndromes (e.g. Diamond-Blackfan Anemia, Dyskeratosis Congenita, Schwachman-Diamond Syndrome, Fanconi Anemia, Amegakayocytic Thombocytopenia, and Severe Congenital Neutropenia), oxalosis, and tuberosclerosis.

Program Contact

Catherine McKeon, Ph.D.
Senior Advisor for Genetic Research
National Institute of Diabetes and Digestive and Kidney Diseases
Room 6103 Democracy 2
6707 Democracy Blvd. MSC 5460
Bethesda, MD 20892-5460 ( For FedEx 20817)
301-480-3503 (FAX)


Grants Management Contact:

Mary K. Rosenberg
Section Chief, DEM Team
Grants Management Branch, NIDDK
Democracy Plaza II, Room 745
6707 Democracy Blvd. MSC 5456
Bethesda, MD 20892 (express mail zip 20817)
Fax: 301-594-9523

National Institute of Neurological Disorders and Stroke (NINDS)

The NINDS seeks to support clinical research on rare disorders that affect the central and peripheral nervous systems. Examples of groupings of rare neurological conditions would include lysosomal storage disorders, leukodystrophies, channelopathies, dystonia and other movement disorders, ataxias, muscular dystrophies, motor neuron disorders, mitochondrial encephalopathies, and brain malformations but interest is not limited to these conditions. A list of diseases that is relevant to the research mission of the NINDS can be found at

Program Contacts:

1) Danilo A. Tagle, Ph.D.
National Institute of Neurological Disorders and Stroke
National Institutes of Health
6001 Executive Boulevard, Room 2114
Bethesda, Maryland 20892-9525
Telephone: (301) 496-5745
Fax: (301) 402-1501

2) Randall R. Stewart, Ph.D.
Program Director for Channels, Synapses and Circuits
SBIR/STTR Program Coordinator
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Neuroscience Center, Room 2135
6001 Executive Blvd.
Bethesda, MD 20892-9523
(For courier delivery:  Rockville, MD 20852)
Telephone 301-496-1917
Fax 301-402-1501

Grants Management Contact:  

Tijuanna Decoster
Chief, Grants Management Branch
National Institute of Neurological Disorders and Stroke
National Institutes of Health
6001 Executive Blvd, Room 3258, MSC 9537
Bethesda, MD 20892-9537
Telephone:   (301) 496-9231
Fax: (301) 402-0219


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