Search Results
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, … only receive deidentified information. If I develop leukemia and require a bone marrow transplant can I have the …
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.
​
… genomic events that lead to leukemogenesis, particularly acute myeloid leukemia involving mutations or chromosomal rearrangements of …
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 …
Staff
Dr. Francis Collins is 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, …
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 …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… V., Rai, K. R., Ferrarini, M., et al. Chronic lymphocytic leukemia B cells can undergo somatic hypermutation and … Consortium, Summar, M. Infectious precipitants of acute hyperammonemia are associated with indicators of … P.M., Moran, T.M., Lee, H.S., Bequette, B.J., Diaz, G.A. Acute metabolic decompensation due to influenza in a mouse …
File
… ministudy@nih.gov National Human Genome Research Institute Acute Infection in Mitochondrial Disease Why are we doing … Research Nurse and study coordinator, at 301-451-9145. … Acute Infection in Mitochondrial Disease Flyer …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… to a variety of infections, including ear infections (acute otitis media), pneumonia or bronchitis, oral thrush (a … a French gene-therapy experiment had developed a type of leukemia. It was soon discovered that the mechanism used to …