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Talking Glossary
Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders.
… gene from one parent to cause the disorder. Sickle cell anemia is an example of an autosomal recessive genetic …
News Release
Researchers used whole genome sequence data to investigate the origin of the mutation that causes "sickling" of red blood cells.
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 …
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 ] … …
Talking Glossary
La terapia génica es una técnica en la que se emplean uno o más genes para tratar, prevenir o curar una enfermedad o trastorno médico.
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 , …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… families learn about how conditions such as sickle cell anemia and cystic fibrosis are inherited in families, what …
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 …