This podcast is about the advancement of rare disease research told by health professionals, researchers, parents and advocates. This podcast is for you to learn how newborn screening research saves the lives of babies every day through discoveries of new technologies and treatments. You will hear stories from experts who treat babies, the families who care for them, and the researchers who make it all happen. We are your co-hosts, Drs. Kee Chan and Amy Brower.
We are from the Newborn Screening Translational Research Network (also known NBSTRN). Our work is supported by one of the institutes at the National Institutes of Health in Bethesda Maryland called the Eunice Kennedy Shriver National Institute of Child Health and Human Development (also known as NICHD). Dr. Chan and I are from the American College of Medical Genetics and Genomics (also known as ACMG) and ACMG leads the NBSTRN. Screening babies saves lives every day, and research advances newborn screening by developing new technologies to screen, diagnose and treat. NBSTRN helps accelerate research by creating tools, resources and expertise for researchers, doctors, families, patients and advocates.
To learn how you can help advance newborn research, advocate for rare disease screening and treatment, and learn about important discoveries, become a member of the Newborn Screening Translational Research Network by visiting our website at www.nbstrn.org.
Thank you for listening to this episode of Newborn Screening SPOTlight. If you like our podcast, please subscribe and share an episode with your colleagues, friends, and family.
\Get involved! Stay informed! Help us advance discoveries! Together, let’s increase the impact of newborn screening research by listening to your stories.
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This podcast is about the advancement of rare disease research told by health professionals, researchers, parents and advocates. This podcast is for you to learn how newborn screening research saves the lives of babies every day through discoveries of new technologies and treatments. You will hear stories from experts who treat babies, the families who care for them, and the researchers who make it all happen. We are your co-hosts, Drs. Kee Chan and Amy Brower.
We are from the Newborn Screening Translational Research Network (also known NBSTRN). Our work is supported by one of the institutes at the National Institutes of Health in Bethesda Maryland called the Eunice Kennedy Shriver National Institute of Child Health and Human Development (also known as NICHD). Dr. Chan and I are from the American College of Medical Genetics and Genomics (also known as ACMG) and ACMG leads the NBSTRN. Screening babies saves lives every day, and research advances newborn screening by developing new technologies to screen, diagnose and treat. NBSTRN helps accelerate research by creating tools, resources and expertise for researchers, doctors, families, patients and advocates.
To learn how you can help advance newborn research, advocate for rare disease screening and treatment, and learn about important discoveries, become a member of the Newborn Screening Translational Research Network by visiting our website at www.nbstrn.org.
Thank you for listening to this episode of Newborn Screening SPOTlight. If you like our podcast, please subscribe and share an episode with your colleagues, friends, and family.
\Get involved! Stay informed! Help us advance discoveries! Together, let’s increase the impact of newborn screening research by listening to your stories.
Lifting the Voices of the Community in the Rare Disease World Through Storytelling
Newborn Screening SPOTlight Podcast
41 minutes 54 seconds
2 years ago
Lifting the Voices of the Community in the Rare Disease World Through Storytelling
If you need a boost of inspiration, a bit of laughter, and a lot of intention, listen to our special guest on the Newborn Screening SPOTlight podcast Effie Parks, who transformed her experiences raising a son with a rare disease to helping others by sharing their stories on her podcast, Once Upon a Gene. The best way to describe Effie may be as the rare disease parent’s best friend… and greatest resource!
She was born in Montana, where she was raised with her 12 siblings. After moving to Washington and marrying her husband, they were blessed with the birth of their son, Ford Canon Parks. When she learned that Ford had been born with an extremely rare genetic condition – CTNNB1 syndrome – she immersed herself into the world of advocacy. Now, she is the host of her own podcast, Once Upon a Gene, where she speaks to others about their journey through life with rare disease. Since the launch of the podcast, Once Upon A Gene was awarded “Best In Show Podcast” by WEGO Health. Podcast Magazine recognized Effie as one of the 40 Under 40 Podcasters and she has been nominated for two Champion of Hope awards from Global Genes. Her mission is to learn, lift voices of the community, connect people to resources and to leave this world better than she found it for others in the rare disease world.
Newborn Screening SPOTlight Podcast
This podcast is about the advancement of rare disease research told by health professionals, researchers, parents and advocates. This podcast is for you to learn how newborn screening research saves the lives of babies every day through discoveries of new technologies and treatments. You will hear stories from experts who treat babies, the families who care for them, and the researchers who make it all happen. We are your co-hosts, Drs. Kee Chan and Amy Brower.
We are from the Newborn Screening Translational Research Network (also known NBSTRN). Our work is supported by one of the institutes at the National Institutes of Health in Bethesda Maryland called the Eunice Kennedy Shriver National Institute of Child Health and Human Development (also known as NICHD). Dr. Chan and I are from the American College of Medical Genetics and Genomics (also known as ACMG) and ACMG leads the NBSTRN. Screening babies saves lives every day, and research advances newborn screening by developing new technologies to screen, diagnose and treat. NBSTRN helps accelerate research by creating tools, resources and expertise for researchers, doctors, families, patients and advocates.
To learn how you can help advance newborn research, advocate for rare disease screening and treatment, and learn about important discoveries, become a member of the Newborn Screening Translational Research Network by visiting our website at www.nbstrn.org.
Thank you for listening to this episode of Newborn Screening SPOTlight. If you like our podcast, please subscribe and share an episode with your colleagues, friends, and family.
\Get involved! Stay informed! Help us advance discoveries! Together, let’s increase the impact of newborn screening research by listening to your stories.
