Starting July 1st, Indiana began screening for X-linked adrenoleukodystrophy (X-ALD) via newborn screening.
X-ALD occurs when certain fats (very long chain fatty acids or VLCFAs) cannot be broken down in the body. These fats build up and affect how the body normally functions. This disease largely affects the nervous system and adrenal glands.
Want to know more about genetic disorders or the work that the Community Health Clinic does? The Community Health Clinic staff has published a series of educational and inspiring videos called “Mini Talks” that are available to watch on their website or YouTube channel.
The latest Community Health Clinic Newsletter is here! Get updates about what we have been doing, read student testimonials, find out about changes to Newborn Screening, and more!
Dr. Ammous recently published research on GM3 Synthase Deficiency. She participated in work groups studying GM3 synthase deficiency and the Amish variant of propionic acidemia.
Part of the Community Health Clinic’s mission is to promote participation in research to advance medical knowledge and improve care. Our medical care for patients with these genetic conditions has a far-reaching effect for the entire medical community and human population. Through our research, we gain insights that apply to genomic medical practice as a whole. Check out some of our other research projects.
In light of the COVID-19 pandemic, many conferences have been canceled, put on hold, or moved to a virtual format. The Community Health Clinic staff is taking full advantage of the online presentations and courses to increase their knowledge and provide more comprehensive, compassionate care.
Three new genetic conditions will be added to the Indiana newborn screening panel on July 1st: Pompe Disease, Krabbe disease, and Hurler syndrome/mucopolysaccharidosis type 1 (MPS 1).