Randi Hagerman
Description: Randi Hagerman is the Medical Director of the UC Davis MIND Institute, an international research center focused on the Medical Investigation of Neurodevelopmental Disorders. With over 30 years of experience, Dr. Hagerman is a leading expert in the diagnosis and treatment of neurodevelopmental disorders such as Fragile X syndrome and autism. She has authored numerous articles and book chapters, and is recognized for her contributions to clinical research in this field, most notably the discovery of FXTAS syndrome. She was recently recognized by Rearch.com as one of the top female scientists in the world. In this episode we talk about the Fragile X and FXTAS syndrome, the difference between phenotypes and genotypes, and explore the question of whether we are defined by our genetics.
Website: Randi Hagerman
Recent Publications:
Fragile X Syndrome: From Molecular Aspect to Clinical Treatment
Metformin treatment in young children with fragile X syndrome
Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management
Fragile X-associated tremor/ataxia syndrome: pathophysiology and management
Resources Mentioned:
Show Notes:
[01:25] Her story and how she got to UC Davis
[03:35] Phenotype vs Genotype
[04:35] What is the Fragile X Genotype?
[07:15] Sex and its relationship to X chromosome pre/full mutations
[08:05] Defining FXTAS symptoms (phenotypically)
[09:50] Revisiting sex and its relationship to X chromosome pre/full mutations
[11:05] Her story behind discovering the neurodegenerative disorder FXTAS
[13:35] Defining FXTAS and its causes
[15:00] FXTAS & Fragile X’s impact on society and how Ricarte, Colombia has adapted to support impacted individuals
[18:30] Why symptoms of FXTAS show up later in life
[20:00] What is white matter disease?
[21:10] Phenotypic differences between Fragile X & FXTAS
[23:00] The critical importance to genetically test when experiencing autistic symptoms
[26:25] Metformin as a treatment for Fragile X and describing the mTOR pathway
[28:00] CBD as a treatment for Fragile X
[29:50] Nutrition as a possible treatment for Fragile X
[31:25] Possible other uses sulforaphane
[32:30] What areas of life are they trying to improve with her Fragile X patients
[34:15] How are the impacted communities involved in the research process?
[35:05] What metrics are used to measure the success of trials?
[38:40] What is FMRP?
[39:45] Issues with IQ testing
[41:00] Possible use of fasting as a treatment and revisiting Metformin uses
[43:00] History of Metformin
[44:45] Telomere length and aging
[46:00] How to retain high cognition as we age
[48:50] Environmental toxins and their impact
[52:20] How does research differ when working with minors
[53:30] Phthalates and their possible impact
[54:50] How deterministic are our genetics of our life outcomes
[1:00:00] Bottleneck effects on different populations
[1:01:30] Trends with genetic testing
[1:03:00] Wrapping up