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Research > Genetics
CRISPR Gene Therapy for Rare Pediatric Disorders: What Families Need to Know
...the first personalized CRISPR therapy to an infant with CPS1 deficiency,...qualify for personalized CRISPR therapy in the next few years. But...It Doesn't Fix. CRISPR is a gene editing tool. It cuts DNA at...a corrected one, or turns a gene on or off. When it works, it...single mutation in a known gene. If you can fix that mutation,...
Special Needs > Muscular Dystrophy
Muscular Dystrophy in 2026: What Families Need to Know About Gene Therapy and Daily Life
...hearing about gene therapy....about gene therapy. Maybe your...FDA-approved gene therapy...FDA-approved gene therapy for Duchenne...expensive, eligibility-restricted,...And while gene therapy...while gene therapy is making...evaluate gene therapy...evaluate gene therapy as an option,...one-time gene therapy...one-time gene therapy approved...dystrophin gene (the protein...but the eligibility window is...
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.
...Administration granted Regenerative Medicine Advanced Therapy (RMAT) designation to GS-100 on April 14, 2026,...to GS-100 on April 14, 2026, an investigational gene therapy developed by Grace Science for NGLY1 Deficiency....GS-100 on April 14, 2026, an investigational gene therapy developed by Grace Science for NGLY1 Deficiency....
Special Needs > Cystic Fibrosis
Exploring the Advancements in Cystic Fibrosis Treatments
...caused by a change in the CFTR gene. This gene controls the flow...change in the CFTR gene. This gene controls the flow of salt and...out of cells. When the CFTR gene is not working right, the body...look for changes in the CFTR gene. This is done with a blood test...These include: Chest physical therapy to loosen mucus in the lungs...
Research > Drug Development
Unveiling Breakthroughs in Muscular Dystrophy Treatment
...treatment. Patient safety is the top priority. Promising Research Areas. Gene therapy is one exciting area of research for muscular dystrophy. The goal...treatment. Patient safety is the top priority. Promising Research Areas. Gene therapy is one exciting area of research for muscular dystrophy. The goal is to...
News > Research
FDA Approves First-Ever Gene Therapy for Genetic Hearing Loss, Available for Free
...parvec-cwha), the first gene therapy for...first gene therapy for genetic...of the OTOF gene. Regeneron...FDA-approved gene therapy to...FDA-approved gene therapy to restore...Cause. The OTOF gene produces otoferlin,...copies of the gene are defective...of the OTOF gene directly into...injects the therapy into the cochlea...per ear. The gene therapy restores...ear. The gene therapy restores otoferlin...
News > Research
The Scientists Behind the First Gene Therapies for Blindness and Sickle Cell Just Won $3 Million Prizes. Here's What Families Need to Know.
...Luxturna, the first gene therapy for an inherited...Luxturna, the first gene therapy for an inherited form...first FDA-approved gene replacement therapy...FDA-approved gene replacement therapy for Leber congenital...in infancy. Their therapy, Luxturna, uses a virus...copy of the RPE65 gene directly into eye cells....replaces the defective gene. Penn Medicine reports...
News > Research
New Research Links Immune System 'Brakes' to Autism Behaviors and Points to Possible Treatment
...typically developing children. In an animal model, Treg therapy reduced neuroinflammation, changed gene expression...Treg therapy reduced neuroinflammation, changed gene expression in brain regions tied to autism, and...gut, fewer inflammatory cytokines, and altered gene expression in the cerebellum, frontal cortex, and...
Research > Genetics
Chromosomal Microarray vs. Whole Genome Sequencing: Which Genetic Test Is Right for Your Child?
...disease. If your child has a rare genetic condition caused by one broken gene, WES is more likely to catch it than CMA. Whole genome sequencing (WGS) reads...(VUS), meaning results your doctors can't interpret yet. CMA won't find single-gene mutations. WES won't...
Special Needs > Rare Disorders
Ending the Diagnostic Odyssey: How Whole Genome Sequencing Is Changing Rare Disease Diagnosis
...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....
Special Needs > Cystic Fibrosis
Unlocking the Potential of Cystic Fibrosis Treatments
...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,...
Medical > Cardiology
A Comprehensive Review on Congenital Heart Defects and the Critical Care Demanded in Special Needs Individuals
...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...