#187 Facioscapulohumeral Muscular Dystrophy with June Kinoshita and Rojan Kavosh

This week we’re diving into Facioscapulohumeral Muscular Dystrophy (FSHD) and highlighting the utilization of whole genome mapping in the diagnosis of FSHD. Joining us to explore these topics are June Kinoshita, Director of Research and Patient Engagement at the FSHD Society, and Rojan Kavosh, a genetic counselor by training who is currently a Genomic Testing Consultant at PerkinElmer Genomics.

June Kinoshita joined the FSHD Society in 2012 and served as its Executive Director until September of 2017. Previously, June co-founded and served as Executive Editor of the Alzheimer Research Forum, the pre-eminent Web community for researchers in neurodegenerative disorders. June has worked closely with a variety of foundations to develop initiatives for multiple sclerosis, schizophrenia, amyotrophic lateral sclerosis, Parkinson’s disease, and other disorders. She is also an entrepreneur, having co-founded N-of-One, Inc., a pioneering individualized clinical decision support oncology company. June graduated from Harvard College where she studied physics, and began her career as a science journalist, working as a writer and editor for Scientific American, Science, The New York Times Magazine, and many other national publications.

Rojan Kavosh MS, CGC, is a licensed certified genetic counselor and Genomic Testing Consultant at PerkinElmer Genomics. Prior to joining PerkinElmer Genomics, she worked as a perinatal genetic counselor in the Fetal Center at Stanford Children’s Hospital. Rojan graduated from UCLA with a degree in Molecular, Cell and Developmental Biology, and earned her Master’s in Genetic Counseling from UC Irvine.

On This Episode We Discuss:

Facioscapulohumeral Muscular Dystrophy (FSHD)

Types of FSHD

Causes of FSHD

Digenic inheritance patterns

Genome optical mapping vs. whole genome sequencing

The genetic etiology of FSHD type 1 vs 2

Benefits of ordering FSHD testing through PerkinElmer Genomics

Clinical trials for FSHD

When the FSHD Society predicts that treatments will be available for people with FSHD

To learn more about genetic testing for FSHD, visit PerkinElmer Genetics and the FSHD Society and be sure to follow the FSHD Society on Twitter, Facebook, LinkedIn, and Instagram.

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