Special Needs

Articles

...It's good at finding point mutations (single-letter changes in DNA)...condition caused by one broken gene, WES is more likely to catch...catches everything WES does plus mutations in non-coding regions that...yet. CMA won't find single-gene mutations. WES won't...CMA won't find single-gene mutations. WES won't...

You're hearing about gene therapy. Maybe your...first FDA-approved gene therapy for Duchenne...outcomes. And while gene therapy is making...how to evaluate gene therapy as an option,...moxeparvovec) is a one-time gene therapy approved...of the dystrophin gene (the protein boys...with confirmed DMD mutations. In 2025, the FDA...confirmed DMD genetic mutation...

...treatment. Patient safety is the top priority. Promising Research Areas. Gene therapy is one exciting area of research for muscular dystrophy. The goal...area of research for muscular dystrophy. The goal is to fix the genetic mutations that cause the disease. This could help the body make...

...Booster Shot blog that "We want to understand: What mutations cause a normal cell to turn into cancer?" In the...rare type of eye cancer. The results pointed to a gene known as SYK, which could be targeted for treating...could be targeted for treating the disease. If the gene could be turned off, perhaps the growth of cancer...

...disabilities. Birth defects are caused by genetics (chromosomal problems or gene mutations) or environmental factors (such as exposure to certain chemicals,...disabilities. Birth defects are caused by genetics (chromosomal problems or gene mutations) or environmental factors (such as exposure to certain chemicals, infections,...

...research, including gene studies. New...studies. New gene studies investigating...pointed out that mutations might be responsible...the recent gene studies, mutations...gene studies, mutations in genes that...autism. These mutations are more present...pass on these mutations; this research...According to the gene studies, these...studies, these mutations could result...These genetic mutations can happen anywhere...

...for that child's genetic mutation, built from scratch as...Doesn't Fix. CRISPR is a gene editing tool. It cuts...corrected one, or turns a gene on or off. When it works,...are caused by a single mutation in a known gene. If you...single mutation in a known gene. If you can fix that mutation,...gene. If you can fix that mutation, you can stop the disease...

...unique facial features. The cause of Williams syndrome is a spontaneous mutation in the elastin gene. People with Williams syndrome often have difficulty...The cause of Williams syndrome is a spontaneous mutation in the elastin gene. People with Williams syndrome often have difficulty with fine motor skills...

...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 every other diagnostic option. That's changing....

...CF is caused by a change in the CFTR gene. This gene controls the flow of salt...by a change in the CFTR gene. This gene controls the flow of salt and water...in and out of cells. When the CFTR gene is not working right, the body makes...test to look for changes in the CFTR gene. This is done with a blood test or a...

...thick, sticky mucus to build up in the lungs and digestive system. CF is passed down through families. You must inherit two copies of the faulty CF gene to have the disease. About 30,000 children and adults in the United States have CF. Most are diagnosed by age 2. Why Early Detection Matters. With CF,...

...individuals' hearts for pre-surgery planning, or non-invasive transcatheter procedures that repair defects without necessitating open-heart surgery. Gene editing techniques, still in experimental stages, hold immense potential for correcting genetic anomalies causing CHDs. Specialized Care for Special...