CoRDS Cast

In today’s episode Alyssa speaks with Karen Dolins who is part of the Maple Syrup Urine Disease Family Support Group (MSUD FSG). Karen is a parent of an individual who has a diagnosis of maple syrup urine disease. Being a registered dietician, she was aware of this condition prior to her child receiving the diagnosis. We will listen to learn how Karen has had such success with her registry along with learning more about this condition.

In this episode of CoRDS Cast, Alyssa interviews David Longman from the Tango2 Research Foundation, and Dr. Michael Sacher, who is a professor in the biology department at Concordia University. TANGO2 itself is a protein coding gene on chromosome 22 (22q11.21). TANGO2 has only recently been identified as a gene that contributes to human disease so there is not yet a deep understanding of the specifics around the underlying pathology and biochemical pathways affected. David is a loving father of a 3 year old who has Tango2. David works closely with researchers such as Dr. Sacher, and does great work with his group to raise money for research and to raise awareness for his son’s condition. To learn more please visit:  https://tango2research.org/

In this episode of CoRDS Cast, Polly sits down with Tabitha Frank, who is the founder of the Endosalpingiosis Foundation, Inc.  After Tabitha was told that she had endometriosis and would never be able to have a child, she got pregnant with her son. Complications started to arise after her pregnancy and she would soon be diagnosed with endosalpingiosis. Tabitha will not only discuss her diagnosis on this episode, but will also talk about the mental strain it puts on women who have this condition. Her mission is to spread awareness and advance research for endosalpingiosis. Enjoy!

On this episode of CoRDS Cast, Alyssa sits down with Kristen Groseclose and Dr. Carlos Prada with the Smith-Kingsmore Syndrome Foundation. Smith-Kingsmore Syndrome is a rare condition which is caused by mutations in the MTOR gene (mechanistic target of rapamycin), found at chromosome location 1p36. Kristen is the president of the Smith-Kingsmore Syndrome Foundation and she also has a  son who had gone 15 years without receiving a diagnosis. Dr. Prada is a clinical scientist with board certifications in pediatrics, genetics, and biochemical genetics. Due to the advancement of genetic testing and efforts from medical professionals like Dr. Prada, children are being diagnosed at a much younger age. The Groseclose’s family have a hope to build a structure of a foundation that will impact families to come.  Enjoy!

On this episode of CoRDS Cast, Alyssa sits down with the Chloe Barnes Advisory Council on Rare Diseases. We will be speaking with Erica Barnes who is the co-founder of the organization, Karl Nelson who is a Physician Assistant and also is diagnosed with a rare condition called ectodermal dysplasia, and Dr. Kris Ann Schultz who is a pediatric oncologist at Children’s Minnesota. The Chloe Barnes Advisory Council on Rare Diseases envisions a world where every Minnesota citizen living with a rare disease has access to a timely diagnosis, comprehensive care, and an effective treatment. Their mission is to provide advice on research, diagnosis, treatment, and education related to rare diseases. This will be a very informative episode you will not want to miss!

If you have any questions or would like more information on the Chloe Barnes Advisory Council on Rare Diseases, please visit: https://cbacraredisease.org/

On this episode of CoRDS Cast, Alyssa and Polly sit down with Deborah Fowler who is the President and Founder of  Soft Bones, Inc. Hypophosphatasia  or HPP is a metabolic bone condition that most often affects the development of bones and teeth. The signs and symptoms vary widely, with mild cases causing only dental abnormalities while the more severe types have life-threatening consequences. The hallmark of the disorder is bones that become soft or weakened, causing skeletal deformities, fractures, premature tooth loss and pain. Deborah’s son was diagnosed with Hypophosphatasia at 18 months old and she is a strong advocate for this rare condition. To learn more information, visit: https://www.softbones.org/  We hope you enjoy!

On this episode of CoRDS Cast Alyssa and Polly sat down with Richard Holl who is not only the founder for the TGA project but a patient as well. TGA stands for Transient Global Amnesia which is a sudden temporary episode of memory loss.  Richard will dive deep into his condition and describe what life is like living with TGA.

Today Alyssa sits down with Taylor Kane. Taylor founded Remember the Girls after learning that more than 50% of female ALD carriers go on to develop  physical symptoms--sometimes severe ones, and that many carriers of the other x-linked recessive disorders are similarly affected. Besides running her own advocacy group Taylor is also a carrier of the x-linked disease Adrenoleukodystrophy (ALD) and became an advocate for ALD families at a very young age, helping to raise over $200,000 for ALD research.  This is a podcast you will not want to miss. Enjoy!

We hear about gene therapies and DNA technologies, but what goes on behind the scenes?  What is it like to work in the industry?  On this episode of CoRDS Cast, Ben sat down with Dr. James Brown who is Aldevron's  Vice President of Corporate Development.  Aldevron started in 1998 and is a manufacturing company implementing strategies for expanding DNA, mRNA, antibody, and protein products and production services.  Among other things, Aldevron produces many of the inputs that go into gene therapies.  Join us as we take a dive into development services and custom manufacturing of nucleic acids, proteins and antibodies that provide companies with essential components for research, clinical and commercial applications.  Enjoy!

On this podcast Alyssa sits down with Josh and Amanda Couch from the White Sutton Syndrome Foundation along with Dr. Reid Sutton.

Amanda is the Co-Founder and President of the White Sutton Syndrome Foundation and Josh is both the Creative Director and Secretary of the White Sutton Syndrome Foundation. They are parents  of three, the youngest of which has been diagnosed with White Sutton Syndrome.

Dr. Reid Sutton is a clinical geneticist and clinical biochemical geneticist at Baylor College of Medicine & Texas Children’s Hospital in Houston. In his role as a clinical researcher with the Baylor-Johns Hopkins Center for Mendelian Genomics, he worked with graduate student Janson White on a number of projects, including the description of the spectrum of developmental and health issues in individuals with variants in the POGZ gene, that the Online Mendelian Inheritance in Man (OMIM) has designated “White-Sutton Syndrome”