Search Results
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… … Genetic Disorder, Genetic Disease, Gene Editing, Genetic Testing, Chromosomes … A list of genetic, orphan and rare …
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
… needs, ranging from clients seeking disease susceptibility testing to those wanting to know if a therapeutic treatment … information about risks but also the consequences of testing and the potential for therapeutic intervention. These … University, Genetic Training, Newborn Screening, Genetic Testing … The JHU/NIH Genetic Counseling Training Program …
Staff
Katie Lewis is a genetic counselor in the NHGRI Genomic Services Research Program (GSRP).
… on genetic counseling and patients who receive genetic testing. She is excited to be working with the patients and … Research Program (GSRP), genetic counseling, genetic testing … Katie Lewis is a genetic counselor in the NHGRI …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… of fetal cell microchimerism and noninvasive prenatal testing using DNA sequencing of fetal and placental DNA … nucleic acids that circulate within the pregnant woman's blood. The information acquired is used to improve counseling … discordant results between the cell-free DNA in maternal blood and the diagnostic fetal karyotype. We have a …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… cells lining the airways of lungs. Researchers are now testing aerosol delivery using nebulizers. But finding the … that the child will be a carrier. The purpose of carrier testing - a laboratory test done on a sample of blood or saliva - is to see if a couple is at risk for giving …
Educational Resources
Genomic variation refers to diversity in gene frequencies.
… in gene frequencies. … Genetic Variation, Genetic Testing, Genetic Counselor, Newborn Screening, Family Health …
Careers and Training
Frequently Asked Questions about the Genetic Counseling Training Program.
… University, Genetic Training, Newborn Screening, Genetic Testing … Frequently Asked Questions about the Genetic …
Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… are generating the evidence base, and designing and testing the implementation of genome sequencing as part of an … Medicine, Genomics In The Clinic, Genetics, Genetic Testing, Newborn Screening, Privacy In Genomics, Genomic …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… and behavioral issues surrounding the use of genetic testing. Students are exposed to cutting-edge molecular … Johns Hopkins in 1979.  GeneDX  Specializes in genetic testing for rare hereditary disorders. Their mission is to make clinical testing available to people with rare genetic conditions and …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… to generate a list of all possible causes and, through blood work and x-rays, weed out the wrong diagnoses until … ​ … Family history, Leslie Biesecker M.D., medical testing, genome sequencing and medical care, genomic …