An article by Harmeet Kaur in the CNN web site tells a sad story that shows why DNA research can be so important. The article tells about a new study published in JAMA Cardiology (at https://jamanetwork.com/journals/jamacardiology/article-abstract/2758306) that sheds light on what caused a number of Amish children to die suddenly. Sadly, the cause turned out to be a genetic problem passed down amongst many families in the Amish community.
Quoting from the report in JAMA Cardiology:
“Findings In this molecular autopsy and genetic analysis, a novel homozygous multiexon duplication in RYR2 was identified among young Amish individuals with exertion-related sudden deaths and sudden cardiac arrests without an overt phenotype to suggest RYR2-mediated catecholaminergic polymorphic ventricular tachycardia.
“Meaning Considering that no cardiac tests reliably identify at-risk individuals, and given the high rate of consanguinity in Amish families, identification of unaffected heterozygous carriers may provide potentially lifesaving premarital counseling and reproductive planning.”
The entire article at https://jamanetwork.com/journals/jamacardiology/article-abstract/2758306 assumes the reader already has an understanding of genetic medical problems. You might first want to read the “English language translation” by Harmeet Kaur in the CNN web site available at: https://www.cnn.com/2020/01/16/health/amish-children-sudden-deaths-mystery-trnd/index.html.
Question: Are there any inherited medical problems affecting your family?
I am told by DNA experts that most families appear to have at least one or two inherited medical problems. While most of the inherited problems are not as deadly as the “homozygous multiexon duplication in RYR2” experienced in many Amish families, genetic problems still may impact the health, longevity, and quality of life of you and your family members.