How genetics and health moves from diagnosis to treatment

Genetics and health is the branch of medicine concerned with diagnosing and managing hereditary disorders, while genetic medicine also includes gene therapy, personalized medicine, and predictive medicine. How can genetic diagnosis help guide treatment, and what can readers understand about the path from identifying a disorder to managing it? The lessons connect diagnostic approaches with treatment, showing how each contributes to care.

3 articles, 1 video, 1 book · about 3 hr 6 min of reading and viewing

The reading path

1. Read
   

   genetics and health · Wikipedia · 23 min read

   In a hypothetical example of metabolic disorders, compound "A" is metabolized to "B" by enzyme "X", "B" to "C" by enzyme "Y", and "C" to "D" by enzyme "Z". If enzyme "Z" is missing, "D" will be missing while "A", "B", and "C" build up. For genetics and health, DNA sequencing directly analyzes the genomic DNA sequence of a particular gene. Although these tests are highly specific and sensitive, they do not routinely identify all mutations that could cause disease.

2. Read
   

   In a Remarkable First, a Baby With a Rare Disease Receives Personalized Gene Therapy · Smithsonian Science · 3 min read

   KJ Muldoon was diagnosed with a rare genetic disease, and scientists developed a customized gene-editing therapy tailored to his mutation. The drug was specific to KJ's genetic sequence, Ahrens-Nicklas tells Heidi Ledford at Nature, and is unlikely to be used for another individual; doctors used a technique that flipped a DNA letter, or "base", to a different type.

3. Read
   

   This "rare" autism-linked genetic disorder may be far more common than scientists thought · ScienceDaily · 4 min read

   CureSHANK Board Chair Geraldine Bliss said there are likely tens of thousands of individuals with Phelan-McDermid syndrome who have never received a genetic diagnosis, and that finding them has never been more important as multiple therapeutics advance into clinical trials. CureSHANK's broader message is that advances in precision medicine can only reach patients who have first been identified and diagnosed.

4. Watch
   

   268 ‒ Genetics: testing, therapy, editing, association with disease risk, autism, and more · YouTube · 2 hr 36 min watch

   Wendy Chung, a board-certified clinical and molecular geneticist, covers genetic testing, sequencing, gene therapy and gene editing, and the genetics of breast cancer, obesity, autism and cardiovascular disease.

5. Book
   

   The Gene: An Intimate History · Bookshop.org

   The Gene by Siddhartha Mukherjee chronicles the history of genes and genetic research, discusses how genetics can determine well-being and traits, and describes his family's genetic history, including mental illness.

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