- Affects approximately 100,000 Americans.
- Occurs in about one out of every 365 African-American births.
- Affects about one out of every 16,300 Hispanic-American births.
But behind these statistics are children and families affected by this debilitating genetic condition. EGL and the "My Beautiful CHILD" community are pleased to support Sickle Cell Disease Awareness Month by promoting education and advocacy for those impacted by SCD, and sharing stories such as this month's featured "My Beautiful CHILD," Nazhi. A powerful 12-year old shares her journey with SCD and her early contribution back to others impacted by this genetic condition.
Our thanks to Nazhi, our youngest blog contributor and recent participant in the EGL My Beautiful CHILD campaign.
Topics: Sickle Cell Disease
Thanks to Colleen McCarthy O'Toole with Cure SMA for this blog contribution that first appeared in Global Genes.
What is spinal muscular atrophy, who is affected, and how can you make a difference? To learn more, click here.
Exome sequencing is a recent addition to the routine clinical genetic testing. This technology allows for the simultaneous testing of thousands of genes; making it essentially the largest multi-gene panel available. The diagnostic detection rate for exome sequencing has been reported as 25-30%, by clinical genetics laboratories. But what can be done for those patients who did not find an answer via exome sequencing? Those remaining 70-75% of individuals, along with their clinicians, must wonder, “so what now?”
To continue our discussion about inherited eye diseases during Healthy Vision Month, I had the pleasure of speaking with Sarah Richards, a clinical genetic counselor who has worked in the Ophthalmic Genetics Clinic at The Emory Eye Clinicfor the last 3 years. Sarah worked under Dr. Suma Shankar, a genetic ophthalmologist who is an Assistant Professor for the Departments of Human Genetics and Ophthalmology at Emory University School of Medicine and serves as the Medical Director for Emory Genetics Laboratory.
How does a 19-year-old college sophomore go from 20/20 vision to legally blind in 2 months?
Jeremy Poincenot, a San Diego State University student, received a shocking, life altering diagnosis just months after expressing concern of blurred vision. A diagnosis that set his mother, Lissa Poincenot, on a path of advocacy to connect patients to thought leaders and supply resources and support.
In 2014, the American Academy of Ophthalmology (AAO) Task Force on Genetic Testing published recommendations for the testing of inherited eye disease. These recommendations are intended for ophthalmologists and other eyecare specialists considering testing patients who meet a specific genetic diagnosis, based on clinical findings. The Task Force addressed key points, such as when to order genetic testing for single-gene and complex eye disease, whether children should be tested, and how the use of genetic technologies may assist in the diagnosis of eye disease.
Continue reading for a summary of The AAO Task Force Recommendations.