Rare Disease Diagnosis Through Technology


We are pleased to announce that The PBS program, Bonnie Erbe’s To The Contrary, will be producing a three part documentary-style series of field pieces and discussion segments on genetic technologies and it’s impact in diagnosing rare disease. The series will air: Part 1: January 22-24, Part 2: February 19-21st and Part 3: March 26-28, please check local listings for the exact date and time.
The series will describe the evolution of DNA sequencing and will show how DNA may be an effective tool in understanding diseases. This series will also showcase the potential for DNA diagnostics in advancing patient care while building awareness and understanding of this innovative technology and its impact on the rare disease community.
Segment 3: March 26-28
With the generous support of Life Technologies Foundation, PBS’ To The Contrary looks at DNA sequencing technology and the benefits it holds for children battling rare disorders.
There are close to 7,000 rare diseases affecting 25 million children and adults in the U.S. alone. Nicole Boice, Founder and President of The Children’s Rare Disease Network says these children and their families often face delayed diagnoses, and very few treatment options.  Boice receives calls everyday from parents in a relentless search to find any information on their child’s disease. Joe and Retta Beery know all too well the stresses and heartbreak of having a child with a rare condition. The Beery’s twins Alexis and Noah suffer from dopa-responsive dystonia, but weren’t diagnosed with the condition until they were five. Now 13, the Beery twins eventually found life-altering treatment, but not before several emotionally and physically draining years battling the unknown. In the third and final segment of a three-part series on DNA sequencing and children with rare diseases, PBS’ To The Contrary investigates how rapidly developing sequencing technology will be able to help diagnose, treat, and potentially cure rare conditions from the onset of symptoms. Tune in the weekend of March 26th for Part III in this three part series, as the Beery family shares their story of hope and survival for the rare disease community.
“We spent five and a half years searching for what in essence is a relatively simple problem to solve. And it’s in those five and a half years as a parent that there would have been nothing that you wouldn’t have given to make them more comfortable, to get them to where they are today. And I think in sequencing, having had the ability to identify this problem early on, right after birth, would have been phenomenal. – Joe Beery, Parent
“What it [DNA sequencing] provides this community is unprecedented. It’s what we’ve been waiting for.” – Nicole Boice, Founder/President, The Children’s Rare Disease Network
Segment 2: February 19-21
With the generous support of Life Technologies Foundation, PBS’ To The Contrary explores DNA sequencing and the benefits it holds for children battling rare diseases.
From its first days, DNA sequencing has proven to be invaluable to doctors and researchers. The completion of the Human Genome Project marked a significant achievement for the scientific and medical community, giving them important information about genetic diseases. In the second of a three-part series on DNA sequencing, PBS’ To The Contrary takes a look at second-generation DNA sequencing technology like the SOLiD 3 Sequencing System and what the future holds for this rapidly developing area of scientific discovery. Tune in the weekend of February 19th as Dr. Richard Gibbs, director of the Human Genome Sequencing Center at Baylor College of Medicine explains the science behind DNA sequencing and how it is helping children and families diagnosed with a rare disease.
“It’s been a hard, slow road to get DNA and the information from it integrated into people’s health, much less their lives. But technology has this way of not impacting lives until some sudden moment when things take off and they are indeed transformative,” states Richard Gibbs, Ph.D.
Segment 1: January 22-24
The first segment in this three part series is set at Baylor Medical School, and profiles Dr. James Lupski and Dr. Richard Gibbs, who have published extensive research into Charcot-Marie-Tooth disease, a commonly inherited neurological disorder. This segment will provide an introduction and insight into DNA sequencing and the impact this technology has on diagnosing patients.
After the series airs, free copies of the show will be made available on DVD by request through the Children’s Rare Disease Network at www.crdnetwork.org This program was made possible by a generous grant from the Life Technologies Foundation, in partnership with Children’s Rare Disease Network.

1 thought on “PBS' To The Contrary With Bonnie Erbe”

  1. Anonymous says:

    This is very exciting! We have been fortunate enough to be involved with the Rare Diseases Clinical Research Network (RDCRN) through the Office of Rare Diseases Research and have been able to take advantage of resources like their meetings on registries and biobanks and videocasts of talks on planning clinical trials with small patient populations. It is really amazing what is going on in the rare diseases community right now and so much more is available to patient advocacy groups then there ever was in the past.
    Primary ciliary dyskinesia (PCD), the group I work for, is a multi-gene disorder. When my daughter was diagnosed we were told that we should abandon all thought of genetic testing or potential genetic therapies for this disorder because the genetic picture was too complex and the disorder was too rare for anyone to focus on. Turns out you just have to find the right researchers who have an intellectual interest in and passion for your disease! Since her diagnosis, we have become affiliated with researchers at UNC, Chapel Hill and their interest in using new technologies to unravel these complex genetic disorders has resulted in the first genetic test for PCD! This is not just important for diagnosis. It is critical to be able to take advantage of therapies aimed at making genetic adjustments which will hopefully be available very soon.
    I am so excited to see PBS’s attention to this topic because I think many other groups can benefit like we did if they know where to go for help.
    Thanks.

Comments are closed.