#247 Duchenne Muscular Dystrophy: Exon Skipping
Duchene and Becker Muscular Dystrophy are genetic disorders noted for progressive muscle weakness that can…
National Organization for Rare Disorders (NORD)
NORD aims to provide resources to those with rare diseases and 'lift up' the rare…
#170 Mitochondrial Disorders with Alejandro Dorenbaum
Mitochondria are the power house of the cell and are so unique to even have…
All Things Thalassemia
Thalassemia is a broad genetic disorder relating to an imbalance of alpha and beta proteins…
What is Sickle Cell Disease?
Sickle cell disease is a genetic disorder that changes the shape of red blood cells,…
Disorders of Sex Chromosomes
This 12 minute video discusses the genetics of how sex chromosome disorders can occur and…
Trisomy 13 and 18 – Pediatric Genetics
This 6 minute video explains how Trisomy 13 (Patau) and Trisomy 18 (Edward) syndrome occurs,…
What is Down Syndrome (Trisomy 21?)
This 6 minute video explains how Down syndrome occurs, the three different ways someone could…
How Does Family History Impact My Risk for Diabetes?
Around 1/10 adults and 1/400 children have diabetes. Lifestyle can cause this but someone with…
#236 Assessing for Alzheimer’s Disease with Quest Diagnostics
Alzheimer's is the most common form of dementia and 1/3 of those with mild cognitive…
Living with Klinefelter Syndrome/47,XXY
The Living with XXY website provides information and resources to people with Klinefelter Syndrome and…
#102 Seth Rotberg on Huntington Disease
What is Huntington's Disease? What is it like to live with it as part of…
DOH GSF Conditions
What genetic conditions are usually tested for in prenatal settings? Watch this 5 min. video…
Spinal Muscular Atrophy: Everything you need to know about being a carrier.
What does it mean that my genetic test showed I am a carrier for a…
Fragile X syndrome – An Overview for Families and Providers
This brochures provides detailed information on Fragile X syndrome. It covers details like what is…
Fragile X Syndrome (FXS) 10 Things You Did Not Know
This 4 minute 30 seconds talks about 10 facts about Fragile X syndrome. It is…
Guide for patients from patients
This is site that can be used extensively as a Resource for a family with…