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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 > Cystic Fibrosis
Exploring the Advancements in Cystic Fibrosis Treatments
Understanding Cystic Fibrosis. Cystic fibrosis is a genetic disorder. It affects the lungs and digestive system....Cystic Fibrosis. Cystic fibrosis is a genetic disorder. It affects the lungs and digestive system. People...than people without CF. Doctors can also do a genetic test to look for changes in the CFTR gene. This...
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...
Global Insights > Education
International Angelman Day: A Global Movement for Change
...Angelman syndrome and their families. Angelman syndrome is a rare neuro-genetic disorder that affects an estimated 1 in 15,000 people. It is characterized...syndrome and their families. Angelman syndrome is a rare neuro-genetic disorder that affects an estimated 1 in 15,000 people. It is characterized by developmental...
Parenting > Early Intervention
The Early Years
...Asperger syndrome is a developmental disorder that affects a person's ability to...syndrome, also known as autism spectrum disorder, is a neurodevelopmental disorder...disorder, is a neurodevelopmental disorder that affects social skills and communication....to be caused by a combination of genetic and environmental factors. There is...
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 > Asperger Syndrome
Asperger Syndrome: What Is It?
...syndrome is a developmental disorder that affects a person's...syndrome is a neurological disorder that affects a person's...caused by a combination of genetic and environmental factors....family member with the disorder, being born prematurely,...help children with the disorder learn how to cope with...a neurodevelopmental disorder that is characterized...
Special Needs > Down Syndrome
The Challenges Of Parenting A Child With Down Syndrome
...Challenges Of Parenting A Child With Down Syndrome. Down syndrome is a genetic disorder that occurs when an individual has a full or partial copy of chromosome...Challenges Of Parenting A Child With Down Syndrome. Down syndrome is a genetic disorder that occurs when an individual has a full or partial copy of chromosome...
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...caused 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...to describe a group of disorders that include autism....