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RGI/RareShare Ask the Experts Podcast Series-Adrenomyeloneuropathy Syndrome

Publication date: 2 Jun 2017

Associated community Adrenomyeloneuropathy

RGI/RareShare Ask the Experts Podcast Series-Adrenomyeloneuropathy Syndrome



Rare Genomics Institute and RareShare are proud to invite you for the upcoming podcast discussing:

Living with Adrenomyeloneuropathy (AMN) -A Clinical & Research Perspective

DATE: 06/14/2017

TIME: 10:00 AM-11:00 AM EST (7:00 AM-8:00 AM PST, 2:00 PM-3:00PM GMT)


  • Are you interested in learning about recent clinical and research developments and available treatment options for AMN?
  • What questions would you ask about symptom management of AMN if you had the experts at hand?
  • Do you have any burning questions you have wanted to ask about AMN but haven’t had the chance to?

Here is that chance!



The first 25 minute segment will feature medical scientists/clinicians discussing the latest developments in AMN regarding genomics and biotechnology research, while the remaining 20 minutes will feature guest speakers will answer your questions/concerns/issues.


**Here is your chance to ask any question you may have about Adrenomyeloneuropathy?

Submit your question(s) NOW with this form (RareShare Adrenomyeloneuropathy Podcast Registration form) and/or register to attend the program.**


Example questions:

  • What are the acute symptoms of Adrenomyeloneuropathy?
  • What can I expect for my hypertonia, peripheral neuropathy, and ataxia because I have Adrenomyeloneuropathy?
  • What kinds of treatments/early diagnosis  are available to manage my Adrenomyeloneuropathy?

Register here to reserve your spot in the call!

PS. If you cannot participate but would like to ask our experts any questions, please submit them here. The transcript and recording will be posted on the homepage of Rare Genomics and RareShare AMN Syndrome Community after the live Q&A.


MODERATOR: Imogen Crispe

Rare Genomics Podcast Organizer


Meet our Panel of Experts


Dr. Paul Orchard, MD

Professor of Pediatrics in the Division of Blood and Marrow Transplantation (BMT) at the University of Minnesota

Medical Director of the Inherited Metabolic and Storage Disease Bone Marrow Transplantation Program


Dr Orchard attended medical school at Brown University, served his residency at the University of Wisconsin - Madison, in pediatrics, and held a fellowship at the University of Minnesota.


Dr. Orchard is interested in the use of blood and marrow transplantation (BMT) and potentially other cell therapies for inherited metabolic diseases, like Hurler syndrome and adrenoleukodystrophy. He has developed new therapies specifically for this group of patients with the goal of minimizing neurologic deterioration during the transplant process, including the use of anti-oxidants, reduced intensity transplant regimens and combinations of therapy such as transplant and enzyme replacement. This work also benefits other children undergoing transplant, particularly in regards to our commitment to minimize the side effects of transplantation.


In addition to his clinical work with patients who have inherited metabolic diseases, Dr. Orchard is also engaged in more basic research studies in regard to determining strategies to enhance the delivery of enzymes to the brain and the peripheral nervous system for patients who lack specific enzymes. In addition, he is interested in testing other types of stem cells that may improve outcomes for patients with inherited diseases, including gene therapy approaches. He also leads research and clinical care for patients with osteopetrosis, an inherited disorder leading to increased density of bone, for which BMT is a treatment option. Dr. Orchard is considered an international expert in this disorder and its treatment.





Dr. William B. Rizzo, MD

Professor, Division of Inherited Metabolic Diseases at the University of Nebraska Medical Center

Dr Rizzo attended medical school at the University of Illinois, Chicago, completed his residency at John Hopkins Hospital in Baltimore, Maryland, and was a fellow at the National Institutes of Health. He has been in practice for more than 20 years.

Dr Rizzo’s research is directed at understanding the genetic and biochemical basis of inherited metabolic diseases, with a particular emphasis on disorders of lipid metabolism, and diseases  which cause a variety of symptoms involving the brain, nerves, skin and eyes. The investigations in his lab range from basic research on biochemical pathways to discovering unrecognized genetic diseases that affect metabolism in children and adults. Dr Rizzo is particularly interested in Sjogren-Larsson Syndrome and his research has identified the cause of several genetic diseases, and led to the development of new diagnostic tests and treatment approaches.