In This Episode
Neal sits down with geneticist Dr. Kimberly Chapman to get down to the nitty-gritty of MTHFR, Alzheimer’s, and genetic testing.
Dr. Kim explains what genetic tests can actually tell us and what exactly is going on (and going wrong) with MTHFR.
She and Neal discuss other maladies that can present as MTHFR, and how it’s diagnosed and treated.
They also explore whether genetic testing for Alzheimer’s is worthwhile, and how it can affect the patient’s quality of life.
- The real worth of genetic testing
- Our bodies functioning at 100% is an impossibility
- How badly does a bodily system have to malfunction to affect the quality of life
- MTHFR and its symptoms
- Other maladies that resemble MTHFR
- How the results of genetic testing will impact quality of life
All About Kimberly Chapman
Dr. Kimberly Chapman is an Associate Professor with tenure of Pediatrics and Systems Biology at the George Washington Medical School and Health Sciences Center.
She is also an attending geneticist and metabolist at the Children’s National Health System in Washington DC and part of the Children’s National Rare Disease Institute.
She received her Bachelors of Science in Chemistry and B.A (chemistry) from St. Louis University. She went on to receive the M.D. and PhD from the University of Nebraska.
She then did residencies in Internal Medicine and Pediatrics at Pittsburgh Health Sciences Center.
Finally she completed a Clinical Genetics and Clinical Biochemical Genetics residency and fellowship at the Children’s Hospital of Philadelphia.
Dr. Kimberly is board-certified in pediatrics, internal medicine, clinical genetics, and clinical biochemical genetics.
Currently her clinical time is spent at Children’s National seeing predominantly individuals with secondary energy deficiencies and intoxication type disorders including Propionic Acidemia, Methylmalonic aciduria, and Homocystinuria.
She is the site PI on a number of natural history studies.
Her basic science research focuses on the intersection between the propionate pathway and the tricarboxylic acid pathway as well as pursuing the proof of principle experiments required to bring new therapeutics for Propionic Acidemia and Methylmalonic Aciduria to our patients.