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						HOME
		Search Text: < Back To Home/Hematopoiesis and Bone Marrow Failure
  Hematopoiesis and Bone Marrow Failure
    Research in the Hematopoiesis and Bone Marrow Failure Laboratory, led by Dr. Neal Young, spans the basic sciences, clinical trials, and epidemiology. Bench work involves methods of cell and molecular biology, immunology, and virology.
    On This Page
    
          Neal Young
  Neal Young, M.D.
          Senior Investigator
          Email
      Meet the Team
            Contact us
  Senior Investigator Research Interests
            
  Research Interests
              Research in the Cell Biology Section spans the basic sciences, clinical trials, and epidemiology. Bench work involves methods of cell and molecular biology, immunology, and virology. Blood cell production in healthy individuals and especially in patients with bone marrow failure is the main theme. Advanced techniques most recently include single cell RNAseq, CRISPR-Cas9 gene editing, multicolored bar coded flow cytometry, and SomaLogic deep proteomics. Use of patient samples is encouraged, as the Hematology Branch clinic for patients with aplastic anemia, paroxysmal nocturnal hemoglobinuria (PNH), myelodysplastic syndromes (MDS), large granular lymphocytosis (LGL), and constitutional marrow failure is one of the largest in the world. Results in the laboratory have had real impact on the care of patients with these life-threatening illnesses, and access to patient samples over time and with therapeutic perturbation makes the laboratory strategies both innovative and concrete.

Some Current Laboratory Projects

Single cell RNAseq of normal and diseased bone marrow stem and progenitor cells

Gene editing in human cell lines of genes that affect the epigenome

RNAseq and gene editing applied to PNH cells

Murine models of immune mediated marrow failure, potential therapies and mechanisms

Sex hormone action on human marrow cells

Some Current and Planned Clinical Protocals

Eltrombopag in marrow failure, including treatment-naïve SAA, MAA, and MDS

Campath in LGL

Rapamycin to prevent relapse in AA

Sex hormone modulation of telomeres in patients with telomeropathies

Organization and Mentoring

The Cell Biology Section is large and has a nucleus of expert senior staff to provide training and supervision in a wide variety of advanced techniques. The Section is part of the Hematology Branch, and there is close interaction among all the Branch’s members, including sharing of resources and expertise. There is an active program of lectures and group meetings. In addition to knowledge acquisition, clear thinking and crisp verbal and written expression are priorities for development in trainees.

Dr. Young’s former trainees are leaders in hematology in the United States, Asia, Europe, and South America.
  Clinical Trials and Studies
Low-Dose Danazol for the Treatment of Telomere Related Diseases
				Recruiting
											
											All Ages
					
											All Genders
					
																		Not Accepting Healthy Volunteers

				Do you have short telomeres and a telomere gene mutation?
												Some people who have aplastic anemia have very short telomeres, which protect the ends of DNA in chromosomes. This study is testing whether low doses of the medicine danazol help prevent telomeres from getting shorter and reduce signs of damage from aplastic anemia or related conditions. Participants in this study must be 3 years or older and have a telomere disease and signs of aplastic anemia, lung disease such as pulmonary fibrosis, or liver disease. This study is located in Bethesda, Maryland.Investigation of the Natural Progression of Clonal Hematopoiesis of Indeterminate Potential and Clonal Cytopenia of Undetermined Significance.
				Recruiting
											
											Adult, Older Adult
					
											All Genders
					
																		Not Accepting Healthy Volunteers

				Are you an adult with clonal hematopoiesis of indeterminate potential (CHIP) or clonal cytopenia of undetermined significance (CCUS)? This study is working with people who have CHIP and CCUS to determine whether they have changes in their genes that raise the risk of atherosclerosis or blood cancers. To participate in this study, you must be at least 18 years old with CHIP or CCUS. This study is located at the NIH Clinical Center in Bethesda, Maryland.Natural History of Acquired and Inherited Bone Marrow Failure Syndromes
				Recruiting
											
											All Ages
					
											All Genders
					
																		Not Accepting Healthy Volunteers

				Do you or your child have bone marrow failure disease or a telomere biology disorder? This study looks at the long-term effects of bone marrow failure disease and its treatments on organ function. Participants in this study must be 2 years or older with bone marrow failure or telomere biology disorder. This study is located at the NIH Clinical Center in Bethesda, Maryland.JAK1/2 Inhibitor Ruxolitinib for Relapsed/Refractory Immune Bone Marrow Failure
				Recruiting
											
											Adult, Older Adult
					
											All Genders
					
																		Not Accepting Healthy Volunteers

				Are you aged 18 and older with an immune bone marrow failure?
												This study is testing a drug called ruxolitinib in people with different types of immune bone marrow failure. Participants will have blood tests every week while they are taking the drug. These tests can be done by the participant s own physician and the results sent to the researchers. This study will take place at the National Institutes of Health Clinical Center in Bethesda, Maryland.Sirolimus (Rapamune) for Relapse Prevention in People With Severe Aplastic Anemia Responsive to Immunosuppressive Therapy
				Recruiting
											
											All Ages
					
											All Genders
					
																		Not Accepting Healthy Volunteers

				Are you or your child taking cyclosporine for aplastic anemia?
												This study is testing whether the medicine sirolimus helps prevent the return of aplastic anemia after stopping cyclosporine. Participants in this study must be 2 years or older and have severe aplastic anemia. This study is located in Bethesda, Maryland.Early Initiation of Oral Therapy With Cyclosporine and Eltrombopag for Treatment Naive Severe Aplastic Anemia (SAA)
				Recruiting
											
											All Ages
					
											All Genders
					
																		Not Accepting Healthy Volunteers

				Do you or your child have severe aplastic anemia? This study tests the safety and effectiveness of two medicines called cyclosporine and eltrombopag in people with severe aplastic anemia. The typical treatment is a combination of three medicines: cyclosporine, eltrombopag, and horse anti-thymocyte globulin. Researchers want to see if starting people at a lower dose of cyclosporine and eltrombopag before giving them horse anti-thymocyte globulin is helpful. Participants in this study must be 4 years or older with severe aplastic anemia. This study is located at the NIH Clinical Center in Bethesda, Maryland.Collection of Blood, Bone Marrow, and Buccal Mucosa Samples from Healthy Volunteers
				Recruiting
											
											All Ages
					
											All Genders
					
																		Accepting Healthy Volunteers

				Are you or your child willing to donate blood or bone marrow to help research? This study collects samples of blood, bone marrow, and buccal mucosa (cells from the inside of the cheek). Researchers will use these samples to study blood cells, blood diseases, and the role of the immune system in conditions such as aplastic anemia. Participants in this study must be at least 8 years old. This study is located at the NIH Clinical Center in Bethesda, Maryland.Eltrombopag With Standard Immunosuppression for Severe Aplastic Anemia
				Recruiting
											
											All Ages
					
											All Genders
					
																		Not Accepting Healthy Volunteers

				Have you or your child been diagnosed with aplastic anemia but not been treated yet?
												This study is testing whether adding the medicine eltrombopag to standard treatments is a better way to treat severe aplastic anemia. Participants in this study must be 2 years or older and have severe aplastic anemia that has not yet been treated. This study is located in Bethesda, Maryland.
Featured Publications
                Eltrombopag added to immunosuppression for children with treatment-naïve severe aplastic anaemia.
            Authors:Groarke EM, Patel BA, Gutierrez-Rodrigues F, Rios O, Lotter J, Baldoni D, St Pierre A, Shalhoub R, Wu CO, Townsley DM, Young NS.
                                                                                                                        
            Br J Haematol.
      
                2021 Feb 01;192(3):605-514
        Read Publication
                      HLA associations, somatic loss of HLA expression, and clinical outcomes in immune aplastic anemia.
            Authors:Zaimoku Y, Patel BA, Adams SD, Shalhoub R, Groarke EM, Lee AAC, Kajigaya S, Feng X, Rios OJ, Eager H, Alemu L, Quinones Raffo D, Wu CO, Flegel WA, Young NS.
                                                                                                                        
            Blood.
      
                2021 Dec 30;138(26):2799-2809
        Read Publication
                      Long-term outcomes in patients with severe aplastic anemia treated with immunosuppression and eltrombopag: a phase 2 study.
            Authors:Patel BA, Groarke EM, Lotter J, Shalhoub R, Gutierrez-Rodrigues F, Rios O, Quinones Raffo D, Wu CO, Young NS.
                                                                                                                        
            Blood.
      
                2022 Jan 06;139(1):34-43
        Read Publication
                      Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1.
            Authors:Obiorah IE, Patel BA, Groarke EM, Wang W, Trick M, Ombrello AK, Ferrada MA, Wu Z, Gutierrez-Rodrigues F, Lotter J, Wilson L, Hoffmann P, Cardona DO, Patel N, Dulau-Florea A, Kastner DL, Grayson PC, Beck DB, Young NS, Calvo KR.
                                                                                                                        
            Blood Adv.
      
                2021 Aug 24;5(16):3203-3215
        Read Publication
                      Somatic Mutations in "Benign" Disease.
            Authors:Mustjoki S, Young NS.
                                                                                                                        
            N Engl J Med.
      
                2021 May 27;384(21):2039-2052
        Read Publication
                                View More Publications
  Meet the Team

    Neal Young

            Neal Young, M.D.
                Senior Investigator
                Neal Young received a A.B. cum laude from Harvard College in 1967 and his M.D. in 1971 from the Johns Hopkins School of Medicine. He did post-graduate medical training at Massachusetts General Hospital and Barnes Hospital at Washington University in St. Louis before joining the NHLBI in 1981. He is a Master of the American College of Physicians and has accrued many academic honors. His efforts as a US Government employee were recognized with Samuel J. Heyman Service to America Medal in Science and the Environment. Dr. Young has authored over 280 original scientific and medical articles in peer reviewed journals and more than 160 reviews and book chapters. He also is author or editor of 10 medical and scientific books, including a new textbook of hematology. Dr. Young is a member of the American Society for Clinical Investigation, American Association of Physicians, American Federation for Clinical Research, American Society of Hematology, and International Society for Experimental Hematology. He is co-inventor on 7 patents concerning B19 parvovirus. Dr. Young’s trainees head departments of hematology worldwide. He has lectured and published prolifically in hematology. He led a novel training program in Vietnam that transformed that country’s approach to blood diseases. He now heads a successful new trans-NIH initiative in human immunology.
    
          Contact the lab
    10 Center DrBethesda, MD 20814United States
        Phone:
                    301-496-5093
                Fax:
            301-496-8396
  Lemlem Alemu
    
            Lemlem Alemu
        

    Biologist

        lemlem.alemu2@nih.gov
            Xingmin Feng
    
            Xingmin Feng, Ph.D.
        

    Staff Scientist

        fengx2@mail.nih.gov
            Jichun Chen
    
            Jichun Chen, Ph.D.
        

    Staff Scientist

        jc642e@nih.gov
            Shouguo Gao
    
            Shouguo Gao, Ph.D.
        

    Staff Scientist

        gaos2@mail.nih.gov
            headshot of emma
    
            Emma Groarke, M.D.
        

    Assistant Research Physician

        emma.groarke@nih.gov
        
                    View
                    Emma's Profile
            Sachiko Kajigaya
    
            Sachiko Kajigaya, Ph.D.
        

    Staff Scientist

        kajigays@nih.gov
            Bhavisha Patel
    
            Bhavisha Patel, MD
        

    Staff Clinician

        bhavisha.patel@nih.gov
            Jennifer Lotter
    
            Jennifer  Lotter, P.A.
        

    Physician Assistant

        jennifer.lotter@nih.gov
            Diego Quinones Raffo
    
            Diego Quinones Raffo
        

    Biologist/Lab Manager

        diego.quinonesraffo@nih.gov
            Fernanda Gutierrez Rodrigues
    
            Fernanda Gutierrez Rodrigues, pharmD, MS
        

    Postdoctoral Fellow

        fernanda.rodrigues@nih.gov
            Zhijie Wu
    
            Zhijie Wu
        

    Postdoctoral Fellow

        zhijie.wu@nih.gov
            avatar
    
            Kate Roskom
        

    Research Nurse
            Jibran Durrani, M.D.
        

    Clinical Fellow

        jibran.durrani@nih.gov
            Ashvind Prabahran, MBBS, FRACP/FRCPA
        

    Special Volunteer

        ashvind.prabahran@nih.gov
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