During the first few years of her life, the participant was developing as expected. She learned to walk at 11 months and talk at 12 months, and was described as a sweet, mature, well-behaved child who could sing entire songs and write complete sentences. Upon entering kindergarten, she succeeded academically, … read more
Starting in early childhood, the participant experienced chronic diarrhea with excess fat in his stool (steatorrhea), fragile and sagging skin (cutis laxa), and poor wound healing. At 11 years old, a heart murmur was detected. Later in life, the participant was diagnosed with atrial fibrillation and heart muscle disease (cardiomyopathy). … read more
Shortly after birth, the patient was noticed to have decreased tone and difficulty breathing. She struggled to drink from a bottle and would breathe liquids into her airway (aspirate). At 6 months, a G tube was placed. Currently she struggles with chewing and swallowing and is unable to drink out … read more
Happy DNA Day! Our friends at @GeneticCouns are hosting a #RedditAMA today- start posting & voting for questions now at the link below https://t.co/qsz8sJibNK #DNADay #DNADay18 #genomics #geneticcounseling
We have a patient with features of Triple A syndrome but no change in the AAAS gene. Sound familiar? Contact us! https://t.co/X9S9mrbelf #achalasia #Addisondisease #alacrima #RareDisease
Infinitesimal Odds: A Scientist Finds Her Child’s Rare Illness Stems From the Gene She Studies https://t.co/T4JuwhmTqD #GCchat #RareDisease #genomics #developmentalbiology #FOXG1
Happy National DNA Day! This annual celebration commemorates the successful completion of the Human Genome Project in 2003 and the discovery of the structure of the DNA helix in 1953. Much of our work in the UDN would not be possible without these scientific advances. Click the photo below to learn more about today's events.
The National Human Genome Research Institute (NHGRI) will launch the National DNA Day Reddit "Ask Me Anything" (AMA) Series on Friday, April 20, continuing each week day until Friday, April 27, 2018, from 1:00 - 3:00 p.m. Eastern. Genomics experts will answer questions at the Reddit Science communit...
UDN Participant 007 has features of Triple A syndrome but no change in the AAAS gene, currently the only gene linked to this rare condition. Please review his page and contact us if you know a similar patient.
Male, age 35 with triple A syndrome (achalasia, Addison disease, and alacrima) of unknown cause. Looking for similar patients!
“It is an astounding story,” Dr. Riddle said. “A basic researcher working on something that might help humanity, and it turns out it directly affects her child.”
When it comes to studying the genetics of the brain, Soo-Kyung Lee is a star, yet she was stunned to discover the cause of her daughter’s devastating disabilities.
Hear from Kim Leblanc, Genetic Counselor and Associate Director of Research Operations for the UDN Coordinating Center on this week's Global Genes RARECast podcast.
We are still searching for answers for one of the first patients enrolled in our participant pages project, a little boy with hypotonia, developmental delay, and increased weight. Please review and contact us if you know a similar patient.
Undiagnosed male, age 3 with low muscle tone (hypotonia), developmental delay, and increased weight. Looking for similar patients!
