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Research > Genetics
Chromosomal Microarray vs. Whole Genome Sequencing: Which Genetic Test Is Right for Your Child?
...you'd considered whole genome sequencing instead. Now you're trying...(CMA) looks for chunks of DNA that are missing or duplicated....intellectual disability. Whole exome sequencing (WES) reads the protein-coding...(single-letter changes in DNA) that cause disease. If your...it than CMA. Whole genome sequencing (WGS) reads all 3 billion...
Special Needs > Rare Disorders
Ending the Diagnostic Odyssey: How Whole Genome Sequencing Is Changing Rare Disease Diagnosis
...2026, whole genome sequencing is cutting that timeline...it. Whole genome sequencing (WGS) reads all 3...of your child's DNA. It catches genetic...panels and exome sequencing miss. Until recently,...What Whole Genome Sequencing Tests. WGS sequences...(exons) that exome sequencing covers. About 98%...regulatory regions. Exome sequencing might miss them....
Parenting > Diagnosis
Genetic Testing for Developmental Delays: What the New AAP Guidelines Mean for Your Family
...intellectual disability. The change makes whole exome sequencing or whole genome sequencing the first-tier recommendation,...change makes whole exome sequencing or whole genome sequencing the first-tier recommendation, not a later step...Isn't). Genetic testing looks at your child's DNA to identify changes (called variants) that might...
Research > Genetics
Clues to Treating Cancers Found in Genomes
...companies recently announced that sequencing the human genome–each person's individual...human genome–each person's individual DNA blueprint–would soon be possible to...in Saint Louis, MO, reported that sequencing the genomes of patients with cancer...600 pediatric cancers and the normal DNA of the children who have them. St....
Research > Genetics
CRISPR Gene Therapy for Rare Pediatric Disorders: What Families Need to Know
...care team matters more than following every breakthrough announcement. What CRISPR Does and What It Doesn't Fix. CRISPR is a gene editing tool. It cuts DNA at a specific location and either removes a faulty segment, inserts a corrected one, or turns a gene on or off. When it works, it addresses the genetic...
Special Needs > Cancer
The Role of Technology in Enhancing Cancer Care for Special Needs Patients
...Patients through Telehealth and Remote Monitoring. Technology has become a powerful ally in the fight against...consultations and remote monitoring devices, these technologies allow patients to access timely medical advice,...medical treatment. By unlocking the secrets of our DNA, we have gained an unprecedented understanding...
Special Needs > Rare Disorders
What Is Williams Syndrome?
...personality and friendliness toward strangers. Williams syndrome is caused 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 can lead happy and fulfilling lives with the help of supportive family and...
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...
Special Needs > Rare Disorders
What is Angelman Syndrome?
...genetic causes include two paternally derived number 15 chromosomes, a 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 to 12 months of age, a child can begin showing signs of Angelman Syndrome. Developmental...