Hear from the experts in our conversations on CHARGE Syndrome (CHD7). We cover CHARGE Syndrome diagnosis, new treatment options, and how to connect with the CHARGE Syndrome community. Experts in this episode include: *Meg Hefner, MS: Genetic co

Neurofibromatosis type 2 (NF2)

Nov 29th, 2020 50m 48s

Hear from the experts in our conversations on a rare genetic disorder: Neurofibromatosis type 2 (NF2). We cover NF2 diagnosis, new treatment options, and how to connect with the NF2 community. Experts in this episode include: *Oliver Adunka, MD

Prader-Willi Syndrome

Nov 23rd, 2020 48m 59s

Hear from the experts in our conversations on a complex genetic condition: Prader-Willi Syndrome (PWS). We cover PWS diagnosis, new treatment options, and how to connect with the PWS community. Experts in this episode include: *Bri Dingmann, M

Galactosemia

Nov 23rd, 2020 58m 30s

Hear from the experts in our conversations on a rare, hereditary disorder: Galactosemia. We cover Galactosemia diagnosis, new treatment options, and how to connect with the Galactosemia community. Experts in this episode include: *Judith Fridov

Angelman Syndrome

Nov 10th, 2020 1h 5m

Hear from the experts in our conversations on a rare neuro-genetic disorder: Angelman Syndrome (AS). We cover AS diagnosis, new treatment options, and how to connect with the AS community. Experts in this episode include: * Lynne Bird, M.D. - C

Hermansy-Pudlak Syndrome (HPS)

Oct 12th, 2020 1h 8m

Hear from the experts in our conversations on an extremely rare genetic disorder: Hermansky-Pudlak Syndrome. We cover HPS diagnosis, new HPS treatment options, and how to connect with the HPS community. Experts in this episode include: *Lauren

TANGO 2

Sep 8th, 2020 59m 12s

Hear from the experts in our conversations on a rare genetic disorder: TANGO2-related metabolic encephalopathy and arrhythmias. We cover TANGO2 Disease diagnosis, new treatment options, and how to connect with the TANGO2 Disease community. Expe

Very long-chain acyl-CoA dehydrogenase (VLCAD)

Aug 25th, 2020 52m 26s

Hear from the experts in our conversations on a type of fatty acid oxidation disorder: VLCAD. We cover VLCAD diagnosis, new treatment options, and how to connect with the VLCAD community. Experts in this episode include: *Erika Beckman, MS: Gen

Duchenne Muscular Dystrophy

Jul 28th, 2020 1h 5m

Hear from the experts in our conversations on a genetic disorder: Duchenne Muscular Dystrophy. We cover Duchenne diagnosis, new treatment options, and how to connect with the Duchenne community. Experts in this episode include: *Ann Martin, MS,

Fragile X Syndrome

Jul 10th, 2020 1h

Hear from the experts in our conversations on a genetic disorder: Fragile X Syndrome. We cover Fragile X Syndrome diagnosis, new treatment options, and how to connect with the Fragile X Syndrome community. Experts in this episode include: *Rebe

Multiple Sulfatase Deficiency

Jul 9th, 2020 1h 3m

Hear from the experts in our conversations on a very rare genetic disorder: Multiple Sulfatase Deficiency. We cover MSD diagnosis, new treatment options, and how to connect with the MSD community. Experts in this episode include: *Rachel Wyatt:

Charcot Marie Tooth (CMT)

Jun 3rd, 2020 1h 8m

Hear from the experts in our conversations on a degenerative nerve disease: Charcot Marie Tooth. We cover CMT diagnosis, new treatment options, and how to connect with the CMT community. Experts in this episode include: * Michael Shy, MD - Prof

22q Deletion Syndrome

May 30th, 2020 48m 30s

Hear from the experts in our conversations on a chromosomal disorder: 22q Deletion Syndrome. We cover 22q Deletion Syndrome diagnosis, new treatment options, and how to connect with the 22q Deletion Syndrome community. Experts in this episode i

Huntington's Disease

May 1st, 2020 1h 9m

Hear from the experts in our conversations on a genetic neurodegenerative disorder: Huntington's Disease. We cover HD diagnosis, new treatment options, and how to connect with the HD community. Experts in this episode include: *Fallon Brewer, M

Ehlers-Danlos Syndrome (EDS)

Apr 1st, 2020 1h

Hear from the experts in our conversations on a rare genetic disease: Ehlers-Danlos syndrome. We cover EDS diagnosis, new treatment options, and how to connect with the EDS community. Experts in this episode include: *Kelly Bontempo, a Genetic

Lynch Syndrome

Mar 31st, 2020 44m 28s

Hear from the experts in our conversations on a rare genetic disease: Lynch Syndrome. We cover Lynch Syndrome diagnosis, new treatment options, and how to connect with the Lynch Syndrome community. Experts in this episode include: *Heather Roch

Neurofibromatosis

Mar 31st, 2020 1h 4m

Hear from the experts in our conversations on a rare genetic disease: Neurofibromatosis. We cover Neurofibromatosis diagnosis, new treatment options, and how to connect with the Neurofibromatosis community. Experts in this episode include: *Rob

Trisomy 13 - Patau

Feb 27th, 2020 53m 18s

Hear from the experts in our conversations on a rare genetic disease: Trisomy 13. We cover Trisomy 13 diagnosis, new treatment options, and how to connect with the Trisomy 13 community. Experts in this episode include: *Brenna Bentley, a gen

Klinefelter Syndrome

Feb 27th, 2020 34m 58s

Hear from the experts in our conversations on a rare genetic disease: Klinefelter Syndrome. We cover Klinefelter Syndrome diagnosis, new treatment options, and how to connect with the Klinefelter community. Experts in this episode include: *

Fabry Disease

Feb 27th, 2020 36m 6s

Hear from the experts in our conversations on a rare genetic disease: Fabry Disease. We cover Fabry disease diagnosis, new treatment options, and how to connect with the Fabry community. Experts in this episode include: *Jessica Bucher, a bo

What is Rare Disease Connection?

Feb 27th, 2020 4m 57s

What is Rare Disease Connection? There are roughly 7,000 rare or orphan diseases. They affect roughly 1 in 10 Americans. Yet the patients and families who receive a diagnosis have little to turn to in the form of resources. Rare Disease Connec

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