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Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… Disease Research Branch. … Pamela Schwartzberg, white blood cells, immune system, infection, immunization … Dr. …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… of the same gene in patients with a similar type of blood vessel inflammation. … The NIH group first encountered … only to a diagnosis, but to fundamental new insights into blood vessel disease. In their study, which appears in the … production of a protein vital to the integrity of healthy blood vessel walls. "This discovery is another example of …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… test called a chromosome analysis is performed on a blood or skin sample to look for an extra chromosome 21 … have Down syndrome. It is recommended that thyroid level testing be performed at least yearly. Some infants with Down … … Down Syndrome, Chromosome 21, Genetic Disorder, Prenatal Testing, Newborn Testing, Mental Disability, Trisomy 21, …
About NHGRI
The Genomic Medicine Working Group explores and advises on issues related to the adoption of genomic medicine.
… Personalized Medicine, Genomics In The Clinic, Prenatal Testing, Genetic Testing … The Genomic Medicine Working Group explores and …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… murmur, sometimes associated with narrowing of the aorta (blood vessel exiting the heart). A tendency to develop high blood pressure (so this should be checked regularly). Minor … an ultrasound test. This can be confirmed by prenatal testing - chorionic villous sampling or amniocentesis - to …
Educational Resources
A birth defect is an abnormality present at birth.
… … Congenital Defect, Genetic Mutation, Pregnancy, Newborn Testing … A birth defect (also called a congenital defect) is …
News Release
NIH is awarding $5.4 million in first-year funding to establish a new program that supports the integration of genomics into learning health systems. As genomic testing becomes increasingly common, more and more genomic data are available in clinical settings, and learning health systems present an opportunity to translate this evidence quickly and directly into improvements in medical care.
… into existing learning health systems. As genomic testing becomes increasingly common, more and more genomic … of genomic medicine. These could include implementing testing for hereditary diseases or using genomic information … of genomics into learning health systems. As genomic testing becomes increasingly common, more and more genomic …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… medical, social and ethical decisions surrounding genetic testing. Provide support and information to help a person make a decision about testing. Interpret the results of genetic tests and medical … a genetic counselor or genetic nurse may help you with testing decisions and support issues, a medical geneticist …
Educational Resources
DNA fingerprinting is a laboratory technique used to establish a link between biological evidence and a suspect in a criminal investigation.
… investigations, other forensic purposes and paternity testing. In these situations, one aims to “match” two DNA …
News Release
Most pregnant women want recommendations from their doctors when deciding which information to receive from prenatal whole genome sequencing.
… consider having an abortion regardless of what the testing indicated. Women who identified as Hispanic or Latina … whole genome sequencing. … non-invasive prenatal testing, Benjamin E. Berkman, genetic counseling … Most …