Results
Research > Genetics
CRISPR Gene Therapy for Rare Pediatric Disorders: What Families Need to Know
...specifically for that child's genetic mutation, built from scratch...it works, it addresses the genetic cause of a disease rather than...addresses the genetic cause of a disease rather than managing symptoms....mutation, you can stop the disease progression. But CRISPR doesn't...It's most 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...but when you called to schedule, the genetic counselor asked if you'd considered...(single-letter changes in DNA) that cause disease. If your child has a rare genetic...disease. If your child has a rare genetic condition caused by one broken gene,...
Research > Funding
Private Foundations Funding Disability Research: A Guide for Advocates and Families
...infrastructure. For families navigating cerebral palsy, fragile X syndrome, or rare genetic conditions, the funding picture looks different. NIH cerebral palsy research...patient populations don't generate the donor urgency that cancer or heart disease do. Academic prestige doesn't cluster around disability research the way...
Special Needs > Rare Disorders
Ending the Diagnostic Odyssey: How Whole Genome Sequencing Is Changing Rare Disease Diagnosis
The average rare disease diagnosis takes 5 to 7...has a name in the rare disease community: the diagnostic...child's DNA. It catches genetic variants that targeted...for proteins, and some disease-causing variants hide...associated with known genetic conditions and flags variants...uncertain significance (VUS), genetic changes whose clinical...
Medical > Cardiology
Managing Your Child's Heart Health with Muscular Dystrophy: A Parent's Guide to Cardiomyopathy Monitoring
...diagnosis forward. Cardiovascular disease is the leading cause of death...This isn't about catching a disease that might develop. It's about...develop. It's about tracking a disease that will, and intervening...process is inevitable. The genetic mutation eliminates functional...dystrophin is produced, so cardiac disease progresses more slowly and...
Assistive Tech > Mobility
Tariffs Are Raising the Cost of Wheelchairs, AAC Devices, and Medications — What Families Can Do
...comes from abroad. Specialty medications for rare diseases often depend on foreign active pharmaceutical...Pharmaceutical products: Specialty medications for rare genetic conditions, seizure disorders, metabolic diseases....genetic conditions, seizure disorders, metabolic diseases. Many rely on imported active ingredients or are...
Special Needs > Cystic Fibrosis
Unlocking the Potential of Cystic Fibrosis Treatments
...Cystic fibrosis (CF) is a genetic disease. It causes thick, sticky...fibrosis (CF) is a genetic disease. It causes thick, sticky mucus...faulty CF gene to have the disease. About 30,000 children and...delay problems caused by the disease. All babies in the U.S. are...These include a sweat test or genetic test. How Cystic Fibrosis Affects...
Research > Drug Development
Unveiling Breakthroughs in Muscular Dystrophy Treatment
...hard to learn more about the disease and test new medicines. Muscular...Researchers start by studying the disease in a lab. They look for ways...trials with people who have the disease. Clinical trials have different...dystrophy. The goal is to fix the genetic mutations that cause the disease....genetic mutations that cause the disease. This could help the body make...
Special Needs > Respiratory Health
Living with Respiratory Health Conditions Challenges and Triumphs
...shortness of breath. Cystic fibrosis is genetic and causes thick mucus to build up...infection, and lung cancer. All of these diseases can have a big impact on daily life....Respiratory Condition. Respiratory diseases often make it hard to do everyday...Triumphs and Successes. While respiratory diseases are challenging, many people find...
Special Needs > Cancer
The Role of Technology in Enhancing Cancer Care for Special Needs Patients
...control over their health. Leveraging Genetic Testing for Personalized Therapies....realm of healthcare, the advent of genetic testing has revolutionized our approach...understanding of our susceptibility to diseases and potential responses to therapies....plans with unparalleled precision. Genetic testing allows us to identify specific...
Medical > Cardiology
Vital Footsteps Towards Heart Health for Down Syndrome Individuals: Prevention, Treatment, and Lifestyle Adjustments
Understanding Heart Disease and its Impact on Individuals with...unique challenges in relation to heart disease; therefore, a deeper understanding...enhancing the quality of their lives. Genetic predisposition makes Down Syndrome...Prevention and Treatment for Heart Disease in Down Syndrome Individuals. In the...
Health > Treatment
5 Reasons You Should Consider Banking Your Newborn's Cord Blood
...unlikely that your baby will have a disease that could be treated with stem cells,...to introduce a slightly different genetic profile that does not contain the...need a stem cell transplant to tackle diseases such as leukemia, Hodgkin's Lymphoma...Hodgkin's Lymphoma or sickle cell disease or a number of other recognized conditions....