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Research > Genetics
Chromosomal Microarray vs. Whole Genome Sequencing: Which Genetic Test Is Right for Your Child?
...(CMA) looks for chunks of DNA that are missing or duplicated....It's good at finding point mutations (single-letter changes in DNA)...(single-letter changes in DNA) that cause disease. If your...catches everything WES does plus mutations in non-coding regions that...CMA won't find single-gene mutations. WES won't...
Special Needs > Cancer
The Role of Technology in Enhancing Cancer Care for Special Needs Patients
...revolutionized our approach to medical treatment. By unlocking the secrets of our DNA, we have gained an unprecedented understanding of our susceptibility to...with unparalleled precision. Genetic testing allows us to identify specific mutations or variations in our genes that influence our risk of developing certain...
Research > Genetics
Clues to Treating Cancers Found in Genomes
...sequencing the human genome–each person's individual DNA blueprint–would soon be possible to do within a...to sequence 600 pediatric cancers and the normal DNA of the children who have them. St. Jude Chief Executive...Booster Shot blog that "We want to understand: What mutations cause a normal cell to turn into cancer?" In the...
Research > Genetics
CRISPR Gene Therapy for Rare Pediatric Disorders: What Families Need to Know
...specifically for that child's genetic mutation, built from scratch as a one-time...CRISPR is a gene editing tool. It cuts DNA at a specific location and either...conditions are caused by a single mutation in a known gene. If you can fix that...a known gene. If you can fix that mutation, you can stop the disease progression....
Special Needs > Rare Disorders
What Is Williams Syndrome?
...unique facial features. The cause of Williams syndrome is a spontaneous mutation in the elastin gene. People with Williams syndrome often have difficulty...by the deletion of genes on chromosome 7. The disorder is diagnosed using DNA testing. There is no cure for Williams syndrome, but affected individuals...
Special Needs > Rare Disorders
What is Angelman Syndrome?
...Other genetic causes include two paternally derived number 15 chromosomes, a mutation, or imprinting center deficit. These causes can be screened through a DNA...mutation, or imprinting center deficit. These causes can be screened through a DNA laboratory. While normal pre-natal and birth history is present, by 6...
Special Needs > Rare Disorders
Ending the Diagnostic Odyssey: How Whole Genome Sequencing Is Changing Rare Disease Diagnosis
...that timeline from years to weeks for families who know how to access it. Whole genome sequencing (WGS) reads all 3 billion base pairs of your child's DNA. It catches genetic variants that targeted gene panels and exome sequencing miss. Until recently, most specialists ordered WGS only after exhausting...
Parenting > Diagnosis
Genetic Testing for Developmental Delays: What the New AAP Guidelines Mean for Your Family
...changed its guidance, and what to expect if your child's doctor recommends it. What Genetic Testing Is (and Isn't). Genetic testing looks at your child's DNA to identify changes (called variants) that might explain developmental delays or intellectual disability. It's not a test for one condition. It's a search...
Social Engagement > Inclusion
The Importance of Valuable Social Interaction
...Need for Social Connection", brain scans, blood pressure, and immune functions are studied to show how social interaction is powerful enough to change DNA replication and alter states of well-being, behavior, and perceptions about the self for the better. I read this book to cope with some depression after...