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Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
… A genetic map is a type of chromosome map that shows the relative locations of … A genetic map is a type of chromosome map that shows the relative locations of …
Talking Glossary
Data science involves the study of large, complex data sets that arise from various types of research projects.
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… before the age of 1 year. There are two types of SMA, type IV and Finkel type, that occur in adulthood, usually after age 30. Symptoms … prognosis for individuals with SMA varies depending on the type of SMA and the degree of respiratory function. The … Three types of SMA affect children before age one year. Type 0 is the most severe form of spinal muscular atrophy and …
News Release
NHGRI researchers have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer.
… family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer. Since 2012, … health risks that are known to contribute to higher diabetes and heart disease rates. “One big issue is that many … Personalized family trees associated with heart disease, diabetes, breast cancer and colorectal cancer. Definitions of …
Educational Resources
Restriction fragment length polymorphism (RFLP) is a type of polymorphism that results from variation in the DNA sequence recognized by restriction enzymes.
… Restriction fragment length polymorphism (RFLP) is a type of polymorphism that results from variation in the DNA … Restriction fragment length polymorphism (RFLP) is a type of polymorphism that results from variation in the DNA …
Educational Resources
A frameshift mutation is a type of mutation involving the insertion or deletion of a nucleotide in which the number of deleted base pairs is not divisible by three.
… A frameshift mutation is a type of mutation involving the insertion or deletion of a … A frameshift mutation is a type of mutation involving the insertion or deletion of a …
Talking Glossary
LOH (short for “loss of heterozygosity”) refers to a type of mutation that results in the loss of one copy of a segment of DNA (typically containing a gene or group of genes).
… LOH (short for “loss of heterozygosity”) refers to a type of mutation that results in the loss of one copy of a … LOH (short for “loss of heterozygosity”) refers to a type of mutation that results in the loss of one copy of a … LOH (short for “loss of heterozygosity”) refers to a type of mutation that results in the loss of one copy of a …
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).
… disease called DADA2 (deficiency of adenosine deaminase type 2). … ability to produce the enzyme ADA2 (adenosine deaminase 2). This can lead to inflammation of the walls of the blood … genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2). … genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2). …
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
… to recommend observing kidney function and screening for diabetes in response to the patient’s symptoms when they had … that participants were more likely to recommend assessing diabetes when the patient was Black, which is in line with racial disparities in diabetes rates in the United States. In a couple cases, the …
News Release
NIH researchers identified a novel role for a gene known as heat shock protein 60, finding it is critical in tissue regeneration and wound healing.
… bacterial infection from a cut. "A major problem is that diabetes inhibits wound healing," said Dr. Burgess. "The … and may lead to hospitalization or even amputation. Diabetes is the leading causes of non-traumatic lower limb … any wound heal, not just wounds encountered by people with diabetes. Will it reduce scarring and increase the speed of …