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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
...designed specifically for that child's genetic mutation, built from scratch as a...being built right now, including the research centers, clinical trials, and specialized...off. When it works, it addresses the genetic cause of a disease rather than managing...disorder. It's most effective when the genetic...
Research > Genetics
Chromosomal Microarray vs. Whole Genome Sequencing: Which Genetic Test Is Right for Your Child?
Your child's neurologist just recommended genetic testing. The referral says "chromosomal microarray"...microarray" but when you called to schedule, the genetic counselor asked if you'd considered whole genome...DNA) that cause disease. If your child has a rare genetic condition caused by one broken gene, WES is more...
Research > Funding
Private Foundations Funding Disability Research: A Guide for Advocates and Families
...NIH autism research funding dropped...Foundation Autism Research Initiative)...syndrome, or rare genetic conditions,...cerebral palsy research averaged $22.7...or adulthood research. The rest focused...disability research. This lag reflects...disability research the way it...contract, entire research areas stall....disability research splits into...for autism research. Their grants...
Research > Brain Science
Neuroplasticity Across Disabilities: The Science of Brain Change in Children with Cerebral Palsy, Down Syndrome, and Stroke
...thing across all of them. Can a brain damaged by oxygen deprivation at birth rewire the same way a brain does after a stroke at age four? Does the genetic change in Down syndrome create a different kind of plasticity? The short answer: the core principles are the same. Repetition, intensity, and timing...
Research > Genetics
Understanding Genetic Testing for Autism, Cerebral Palsy, and Developmental Disabilities: A Parent's Guide
...mentions genetic testing....anything. Genetic testing after...underlying genetic cause that...each type of genetic test can...recommended. Why Genetic Testing Matters...root cause. Genetic testing looks...Finding a genetic cause can...specific genetic diagnosis...with certain genetic conditions....And if a genetic variant is...screened. But genetic testing doesn't...cause. A genetic variant is...
Special Needs > Muscular Dystrophy
Empowering Families in the Muscular Dystrophy Journey
Understanding Muscular Dystrophy. Muscular dystrophy is a group of genetic disorders that cause muscle weakness and loss over time. There are many...They can do an exam and may order tests like: Blood tests to check for genetic mutations Muscle biopsy to look at the muscle tissue Electromyography (EMG)...
Special Needs > Cystic Fibrosis
Unlocking the Potential of Cystic Fibrosis Treatments
What is Cystic Fibrosis? Cystic fibrosis (CF) is a genetic disease. It causes thick, sticky mucus to build up in the lungs and digestive...doctors do more tests to be sure it is CF. These include a sweat test or genetic test. How Cystic Fibrosis Affects the Body. CF mainly affects the lungs...
Research > Drug Development
Unveiling Breakthroughs in Muscular Dystrophy Treatment
...Importance of Research for Muscular...Muscular Dystrophy. Research is very important...cure yet, but research is helping to...muscular dystrophy research. This support...progress. With more research, we can get closer...lot of money. Researchers start by studying...priority. Promising Research Areas. Gene therapy...exciting area of research for muscular...is to fix the genetic mutations that...
Medical > Cardiology
Health Prognosis: Cardiac Concerns in People with Down Syndrome
...Individuals with Down syndrome possess an extra copy of chromosome 21. This genetic variance can also affect heart development, leading to anomalies such as...conditions was challenging. However, due to the tireless work of medical researchers and clinicians, the truth is much more optimistic today. Advancements...
Global Insights > Education
International Angelman Day: A Global Movement for Change
...Angelman syndrome is a rare neuro-genetic disorder that affects an estimated...attention to the need for increased research, resources, and support for Angelman...for fostering collaboration among researchers, healthcare professionals, and...community advocates for advanced research and medical interventions to enhance...
Health > Treatment
5 Reasons You Should Consider Banking Your Newborn's Cord Blood
Medical practitioners and medical research scientists are fully aware of the benefits that can be gained from collecting...rather than their own because you need to introduce a slightly different genetic profile that does not contain the fault that they need to treat. However,...