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Research > Genetics
CRISPR Gene Therapy for Rare Pediatric Disorders: What Families Need to Know
...a rare metabolic disorder that prevents the...for that child's genetic mutation, built from...children with rare disorders won't qualify for...it addresses the genetic cause of a disease...powerful for rare disorders. Many of these conditions...work for every rare disorder. It's most effective...effective when the genetic...
Research > Genetics
Chromosomal Microarray vs. Whole Genome Sequencing: Which Genetic Test Is Right for Your Child?
...child's neurologist just recommended genetic testing. The referral says "chromosomal...when you called to schedule, the genetic counselor asked if you'd considered...enough to identify most chromosome disorders. CMA is the test that finds conditions...disease. If your child has a rare genetic condition caused by one broken gene,...
Special Needs > Rare Disorders
Ending the Diagnostic Odyssey: How Whole Genome Sequencing Is Changing Rare Disease Diagnosis
...billion base pairs of your child's DNA. It catches genetic variants that targeted gene panels and exome sequencing...inversions. It identifies variants associated with known genetic conditions and flags variants of uncertain significance...flags variants of uncertain significance (VUS), genetic changes whose clinical impact isn't yet understood....
Assistive Tech > Mobility
Tariffs Are Raising the Cost of Wheelchairs, AAC Devices, and Medications — What Families Can Do
...subject to tariffs. Pharmaceutical products: Specialty medications for rare genetic conditions, seizure disorders, metabolic diseases. Many rely on imported...Pharmaceutical products: Specialty medications for rare genetic conditions, seizure disorders, metabolic diseases. Many rely on imported active ingredients or are manufactured...
Special Needs > Muscular Dystrophy
Empowering Families in the Muscular Dystrophy Journey
...Muscular dystrophy is a group of genetic disorders that cause muscle weakness...Muscular dystrophy is a group of genetic disorders that cause muscle weakness and loss...tests like: Blood tests to check for genetic mutations Muscle biopsy to look at...who specializes in nerve and muscle disorders Physical therapist to help with strength...
Special Needs > Rare Disorders
What Is Williams Syndrome?
...syndrome is a rare genetic disorder that is characterized...is a rare genetic disorder that is characterized...syndrome is a rare genetic disorder that was...is a rare genetic disorder that was first identified...J.C.P. Williams. The disorder is characterized by...chromosome 7. The disorder is diagnosed using...syndrome is a rare genetic condition that can...
Special Needs > Autism Spectrum
Autism: What Is It And How Does It Affect My Child?
...Autism is a developmental disorder that can cause social,...condition, but a spectrum of disorders with different symptoms...by a combination of genetic and environmental factors....Autism is a neurological disorder that affects a person's...behavior. Autism spectrum disorder (ASD) is the term used...describe a group of disorders that include autism....
Special Needs > Attention Deficit Disorders
AD/HD: Knowledge Is Power
Key AD/HD research: Girls struggle more to get noticed, it's genetic, and outdoor time helps manage symptoms.
Special Needs > Attention Deficit Disorders
What is ADD and ADHD?
...deficit hyperactivity disorder, also commonly called...deficit hyperactivity disorder also tend to have...attention deficit disorder is the same as attention...attention hyperactivity disorder. ADHD is the current...deficit hyperactivity disorder, including inattentive,...however, it is linked to genetics, and research is finding...research is finding genetic markers that might...
Special Needs > Autism Spectrum
What is Pervasive Development Disorder?
...development disorder, often called...developmental disorder or PDD, is...spectrum disorders. PDD includes...Asperger's disorder, Rett syndrome,...disintegrative disorder, and PDD-NOS,...development disorder (not otherwise...development disorders, and the...pointed at genetic and environmental...developmental disorders are believed...of related disorders with multiple...development disorders include:...
Special Needs > Autism Spectrum
Facial Differences Found in Boys with Autism
...about whether autism is caused by genetics or by environmental influences,"...for Autism and Neurodevelopmental Disorders. "If we can identify when these facial...time could lead us to identify a genetic cause, a window of time when the...specific types of autism spectrum disorders....
Special Needs > Rare Disorders
What is Angelman Syndrome?
...Syndrome is a neuro-genetic disorder that is often...is a neuro-genetic disorder that is often misdiagnosed...speech, and motor disorders. Named after Dr. Harry...it has a certain genetic component that distinguishes...distinguishes it from other disorders. Angelman Syndrome...Angelman Syndrome. Other genetic causes include two...Movement or balance disorder — ataxia or awkward...