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News Release
Researchers used whole genome sequence data to investigate the origin of the mutation that causes "sickling" of red blood cells.
Staff
Stacie Anderson is an associate director in the Office of Scientific Core Facilities and is also the director of the Flow Cytometry Core. ​
… convergence in ex vivo models of Diamond-Blackfan anemia. Blood, 129(23):3111-3120. 2017. [ PubMed ] …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… internal blood loss and is the world's leading cause of anemia and protein malnutrition, particularly in pregnant … live in fresh water. It can impair growth, cause severe anemia and lead to kidney and liver malfunctions. More than …
Profile
After major advances in hematology, David Bodine retires with an eye towards mentorship and a garden
David Bodine, founder of the Hematopoiesis Section and chief of the Genetics and Molecular Biology Branch, advanced the fields of gene therapy and hematology in his 38 years at the NIH. Now, he plans to continue his contributions to science as an emeritus and through training the next generation of scientists.
… the genomic mutations that cause Diamond Blackfan anemia, a condition in which patients cannot produce enough …
Fact Sheet
Sickle cell disease resources for patients
… Society of Hematology (ASH)    What is Sickle Cell Anemia? (video )   American Society of Hematology (ASH)    …
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… also identified REN mutations as the cause of one form of anemia and chronic kidney failure. Understanding the genetic … gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet , …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… diseases like hemophilia, cystic fibrosis, and sickle cell anemia also run in families. For example, if a parent has …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… manifestations of DADA2 such as liver disease, severe anemia and skin rashes. The 2014 studies also raise the …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… by sickle cell disease experience significant pain and anemia as well as damage to their hearts, lungs and kidneys. …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… related to environmental factors include uncommon types of anemia caused by vitamin-deficient diets or certain …