Results
Medical > Cardiology
Cardiac Risks for Female Carriers of Duchenne Muscular Dystrophy
When a son is diagnosed with Duchenne muscular dystrophy, the genetic counseling that follows almost always turns to his mother. She may learn that she carries the mutation, and the conversation usually reassures her...
Special Needs > Cystic Fibrosis
Exploring the Advancements in Cystic Fibrosis Treatments
...Cystic Fibrosis. Cystic fibrosis is a genetic disorder. It affects the lungs and...without CF. Doctors can also do a genetic test to look for changes in the CFTR...early. To learn more about newborn screening for CF, go to https://www.cff.org/What-is-CF/Testing/Newborn-Screening-for-CF/....https://www.cff.org/What-is-CF/Testing/Newborn-Screening-for-CF/. Treating Cystic Fibrosis....
News > Research
Yale Researchers Used Zebrafish to Find Drug Candidates That Could Help Children with Autism
...development timelines for autism treatments typically span decades. By screening FDA-approved drugs that have already cleared safety trials, researchers...it off-label while formal autism trials proceed. The focus on specific genetic mutations means families who...
News > Research
Children With Epilepsy Are Up to 10 Times More Likely to Have Autism. A New Study Explains What Families Need to Do.
...The comorbidity isn't part of routine clinical screening despite the elevated risk. Senior author Dr. Elaine...delayed." The study authors emphasized that early screening supports earlier diagnosis and timely intervention,...Biology. Epilepsy and autism share overlapping genetic and neurological pathways....
Health > Alternative Medicine
How to Choose Safe CBD Products: Purity Testing and Quality Verification
...accurate labeling, no enforced potency range, and no mandatory contaminant screening. A 2017 study in JAMA tested 84 CBD products sold online and found that...one tied to the exact batch number on the bottle in front of you, not a generic COA linked from the company's homepage. A COA worth trusting includes:...
Research > Genetics
When Genetic Testing for Autism Finds Nothing: What a Negative Result Means
...most misread documents in pediatric genetics. It does not say your child has no...It does not say your child has no genetic cause. It says that the specific test...Autism is not a condition that a genetic test diagnoses. More than 100 genes...with an autism diagnosis, a specific genetic cause is identified in fewer than...
News > Advocacy
Colorado Is Halving Paid Family Caregiver Hours. Ohio and Pennsylvania Are Next. What Families on Medicaid Waivers Need to Do Now.
Casey Barrett is 43 years old. His 15-year-old daughter Olivia has an extremely rare genetic disorder and requires round-the-clock care. Until this year, Colorado's Medicaid waiver program paid him for over 100 hours a week as her primary caregiver....
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
...treatment was designed specifically for that child's genetic mutation, built from scratch as a one-time intervention...gene on or off. When it works, it addresses the genetic cause of a disease rather than managing symptoms....every rare 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
...investigators. That's not supplemental support. That's critical infrastructure. For families navigating cerebral palsy, fragile X syndrome, or rare genetic conditions, the funding picture looks different. NIH cerebral palsy research averaged $22.7 million annually from 2014 to 2023. Only 2.3% of that went...
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...