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Research > Genetics
When Genetic Testing for Autism Finds Nothing: What a Negative Result Means
...misread documents in pediatric genetics. It does not say your child...not say your child has no genetic cause. It says that the specific...is not a condition that a genetic test diagnoses. More than...autism diagnosis, a specific genetic cause is identified in fewer...autistic children. Whole genome sequencing, which reads the sequence...
Research > Genetics
Chromosomal Microarray vs. Whole Genome Sequencing: Which Genetic Test Is Right for Your Child?
...neurologist just recommended genetic testing. The referral...called to schedule, the genetic counselor asked if you'd...considered whole genome sequencing instead. Now you're trying...disability. Whole exome sequencing (WES) reads the protein-coding...your child has a rare genetic condition caused by one...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
...whole genome sequencing is cutting that...Whole genome sequencing (WGS) reads...DNA. It catches genetic variants that...panels and exome sequencing miss. Until...Whole Genome Sequencing Tests. WGS sequences...(exons) that exome sequencing covers. About...regions. Exome sequencing might miss them....associated with known genetic conditions and...significance (VUS), genetic changes whose...
Parenting > Diagnosis
Genetic Testing for Developmental Delays: What the New AAP Guidelines Mean for Your Family
...recommending genetic testing" and...guidance on genetic testing for...whole exome sequencing or whole genome...whole genome sequencing the first-tier...Here's what genetic testing means,...it. What Genetic Testing Is...(and Isn't). Genetic testing looks...match known genetic conditions....disability have a genetic cause. That...child grows. Genetic testing doesn't...there's a genetic explanation...
Research > Brain Science
Advancements in Autism Science
...science technology include brain imaging, stem cell science, and gene sequencing. Scientists say mapping out the genetic blueprint of a child with autism...stem cell science, and gene sequencing. Scientists say mapping out the genetic blueprint of a child with autism will be...
Research > Genetics
Whole Genome Sequencing Identifies Genetic Variants in 34% of Autism Cases
...conversation often turns to genetic testing. You may...where whole genome sequencing (WGS) enters the...that WGS identifies genetic variants in approximately...differences. Whole genome sequencing goes deeper. It reads...matters when the genetic cause is subtle or...underwent whole genome sequencing. Researchers identified...cases. Whole exome sequencing (which reads only...
Research > Genetics
Clues to Treating Cancers Found in Genomes
Two biotech companies recently announced that sequencing the human genome–each person's individual DNA blueprint–would soon be...Memphis, TN, and Washington University in Saint Louis, MO, reported that sequencing the genomes of patients with cancer might lead to better treatments. In...
Medical > Cardiology
Cardiac Risks for Female Carriers of Duchenne Muscular Dystrophy
When a son is diagnosed with Duchenne muscular dystrophy, the genetic counseling that follows almost always turns to his mother. She may learn that she carries the mutation, and the conversation usually reassures her...
News > Advocacy
Colorado Is Halving Paid Family Caregiver Hours. Ohio and Pennsylvania Are Next. What Families on Medicaid Waivers Need to Do Now.
Casey Barrett is 43 years old. His 15-year-old daughter Olivia has an extremely rare genetic disorder and requires round-the-clock care. Until this year, Colorado's Medicaid waiver program paid him for over 100 hours a week as her primary caregiver....
News > Research
The FDA Just Gave a Rare Pediatric Gene Therapy Its Fastest Regulatory Track. Here's What Families of Children with NGLY1 Deficiency Need to Know.
...treated for at least 52 weeks. For families of children with this ultra-rare genetic disease, this marks the first treatment specifically targeting the underlying...accelerated regulatory pathway. NGLY1 Deficiency is a serious, life-threatening genetic condition with no approved treatment. Approximately 100 individuals worldwide...
Research > Genetics
CRISPR Gene Therapy for Rare Pediatric Disorders: What Families Need to Know
...treatment was designed specifically for that child's genetic mutation, built from scratch as a one-time intervention...gene on or off. When it works, it addresses the genetic cause of a disease rather than managing symptoms....every rare disorder. It's most effective when the genetic...
Research > Funding
Private Foundations Funding Disability Research: A Guide for Advocates and Families
...investigators. That's not supplemental support. That's critical infrastructure. For families navigating cerebral palsy, fragile X syndrome, or rare genetic conditions, the funding picture looks different. NIH cerebral palsy research averaged $22.7 million annually from 2014 to 2023. Only 2.3% of that went...