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News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… blood cancers, such as myelodysplastic syndrome, acute myeloid leukemia and acute lymphoblastic leukemia. Many people with … of the genome can affect a person’s risk of developing leukemia. By conducting exome sequencing, which analyzes the … changes may indicate that a person is starting to develop leukemia. People with RUNX1-FPD seem to accumulate these …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… disease called familial platelet disorder with associated myeloid malignancies (FPDMM, or simply FPD), which is … L, et al. RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies. 2021 Mar 4. In: Adam MP, Ardinger HH, … Study of Patients with Familial Platelet Disorder with Myeloid Malignancy. Blood . 2023 Sep 22:blood.2023019746. …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… clinical phenotype of gene variant carriers.    Severe Acute Malnutrition (SAM)  Approximately two million children … an estimated 20-30% not surviving. Classically, severe acute malnutrition (SAM) manifests in one of two forms: the … M Manary, I Trehan, NA Hanchard^. Edematous severe acute malnutrition is characterized by hypomethylation of …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
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… genomic events that lead to leukemogenesis, particularly acute myeloid leukemia involving mutations or chromosomal rearrangements of … t(8:21) identifies patterns of clonal evolution in relapse leukemia . Leukemia 30: 501-504. 2016. Carrington B, Varshney GK, …
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).
… drug mercaptopurine (Purinethol) to patients with acute lymphoblastic leukemia. Some people have a genetic variant that interferes … For example, one of the treatment options for childhood acute lymphoblastic leukemia [cancer.gov] is stem cell …
Fact Sheets
A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell.
… designed to treat a blood cancer called chronic myeloid leukemia (CML). CML occurs because of a single genetic glitch …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… which are important in the immune response, and myeloid bone marrow precursors. Although the precise function … by the liver, that is only present during episodes of acute inflammation. Elevated albumin in the urine, which is …
For Patients and Families
​Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.​
… drug mercaptopurine (Purinethol) to patients with acute lymphoblastic leukemia. Some people have a genetic variant that interferes …
File
… ministudy@nih.gov National Human Genome Research Institute Acute Infection in Mitochondrial Disease Why are we doing … Acute Infection in Mitochondrial Disease Flyer …
Staff
Dr. Francis Collins was a senior investigator in Center for Precision Health Research.
… factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia . Science, 261, 1041-1044. 1993. Ballester R, …