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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 counselor at Saint Louis University School of Medicine, and special advisor for the CHARGE Syndrome Foundation. *Timothy Hartshorne, Ph.D.: Psychologist and chair of the CHARGE Syndrome foundation advisory board, and parent to a child with CHARGE syndrome. *Donia Shirley-Douglas: Parent Liaison. More resources and information for you: raredisease.com/charge

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, FACS: Director of Otology, Neurotology and Cranial Base Surgery, Department of Otolaryngology, Head and Neck Surgery, at The Ohio State University Wexner Medical Center. *Lauren Hanrahan: Ambassador for NF2 Bio Solutions, and recently diagnosed with NF2. * Nicole Henwood, MD: Physician, President and CEO of NF2 Bio Solutions, and parent of a child with NF2. More resources and information for you: https://raredisease.com/nf2

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, MS, LCGC: Genetic counselor at Seattle Children’s Hospital *Virginia E. Kimonis, MD: Clinical geneticist at UC Irvine School of Medicine. *Amanda Atkins: Licensed marriage and family therapist. Her eldest son, Asher, has Prader-Willi Syndrome. More resources and information for you: raredisease.com/pws

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 Fridovich-Keil PhD: Principal investigator in the Fridovich-Keil lab at Emory University. *Anne Kozek, MS, RD, LDN: Registered dietitian at the Ann & Robert H. Lurie Children's Hospital of Chicago. * Brittany Cudzilo: Outreach Coordinator for the Galactosemia Foundation, and mother of three daughters, the youngest of which has Classic Galactosemia. More resources and information for you: raredisease.com/galactosemia

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. - Clinical geneticist and professor at UCSD School of Medicine. * Regina Uribe - Parent advocate of Angelman Syndrome. Her daughter, Natalia (4.5 years old), was diagnosed with Angelman Syndrome when she was 3. * Paula Evans - Parent advocate and Chairperson of FAST (Foundation for Angelman Syndrome Therapeutics). More resources and information for you: raredisease.com/angelman-syndrome

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 Giannetti Sferrazza MS, LGC - Certified and Licensed Genetic Counselor at Myriad Genetics. *Donna Appell, R.N. - Executive Director and Founder of the Hermansky-Pudlak Syndrome Network. *Heather Kirkwood - COO and Chief Communications Officer at the Hermansky-Pudlak Syndrome Network. More resources and information for you: raredisease.com/hps

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. Experts in this episode include: *Seema Lalani, MD - Clinical geneticist at Texas Children's Hospital, and professor at Baylor College of Medicine. *Jayme Gilmore, DPT - Pediatric Physical Therapist. *Lindsey Messerschmidt, CCC-SLP - Licensed Speech Pathologist, and mom of three children born with TANGO2. More resources and information for you: raredisease.com/tango2

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: Genetic Counselor in Seattle, WA. *J. Daniel Sharer, PhD: Director of the Biochemical Genetics Laboratory at UAB. *Deb Lee Gould, MEd: Director of the FOD Family Support Group. More resources and information for you: raredisease.com/vlcad

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, CGC - Certified genetic counselor with Parent Project Muscular Dystrophy, and Director of The Duchenne Registry. *Edward C. Smith, MD - Pediatric Neurologist at Duke University Hospital. *Debra Miller - CEO and founder of CureDuchenne. More resources and information for you: raredisease.com/dmd

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: *Rebecca Sheedy - Genetic Counselor at Autism and Developmental Medicine Institute, Geisinger. *Elizabeth M. Berry-Kravis, MD, PhD - Pediatric neurologist in Chicago, Illinois. *Peter Todd, MD, PhD - Neurologist, and researcher at the University of Michigan Medical School. *Gregg Harper - Former Mississippi State Representative and father of Livingston, his adult son who has Fragile X syndrome. More resources and information for you: raredisease.com/fragilex

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: Genetic Counselor at UT Health San Antonio. *Lars Schlotawa, MD: Pediatrician and child neurologist based in Goettingen, Germany. *Mauricio De Castro, MD: Physician, scientist, and Associate Director for the Air Force Medical Genetics Center. *Amber Olsen: Executive Director and Founder of the United MSD Foundation, and mother to Willow, diagnosed with Multiple Sulfatase Deficiency.

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 - Professor of Neurology at the University of Iowa. * Shawna Feely, MS, LGC - Genetic Counselor with a specialty in neuro-genetics and CMT. * Elizabeth Ouellette - CMT advocate, and mother of Yohan, who was diagnosed with CMT1A in 2003. More resources and information for you: raredisease.com/cmt

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 include: *Emily Palen, genetic counselor and coordinator of the 22q Developmental Specialty Clinic at Geisinger’s Autism and Developmental Medicine Institute (ADMI). *Scott E. Hickey, MD, clinical geneticist in the Division of Genetic & Genomic Medicine at Nationwide Children's Hospital. *Kisha Bonnell, mother of a child diagnosed with 22q Deletion Syndrome. More resources and information for you: raredisease.com/22q

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.S., CGC - Lead genetic counselor at the University of Alabama at Birmingham. *Hope Heller, LCSW-C - Clinical social worker and program coordinator for the MedStar Georgetown University Hospital Huntingtons Disease Care Education and Research Clinic. *Dr. Victor Sung, MD - Associate Professor of Neurology at the University of Alabama at Birmingham, Director of UAB Huntington's Disease Clinic, and Co-Director of UASOM Medical Student Neuroscience Module. *Tyler Orem - From the Team Hope Walk program at HDSA. Senior student in neuroscience at the University of Alabama at Birmingham. More resources and information for you: raredisease.com/huntingtons

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 Counselor and Faculty Member at the Graduate Program in Genetic Counseling at Northwestern University. *Jan Delariman a Senior Occupational Therapist at Lutheran General Hospital. *Patricia Shimanek, PT, a physical therapist with expertise in EDS. More resources and information for you: raredisease.com/eds

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 Rocha, a Genetic Counselor at Geisinger Medical Center in Danville, Pennsylvania. *Dr. Julie Woods, MD, a Medical Oncologist at Geisinger Medical Center in Danville, Pennsylvania. *Dr. Julie Hergenrather, PhD, Psychologist at the Geisinger Health System in Danville, Pennsylvania. More resources and information for you: raredisease.com/lynch

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: *Robert J. Hopkin, MD, an associate professor of clinical pediatrics at Cincinnati Children's Hospital Medical Center, in the University of Cincinnati College of Medicine. *Dr. Bruce Korf, MD, PhD, a medical geneticist, director of the Heflin Center for Human Genetics and chairman of the Department of Genetics at the University of Alabama at Birmingham. *Emily Sites, LGC, a genetic counselor with a specialty focus in Neurofibromatosis, and coordinator of the Neurofibromatosis Clinic at at Nationwide Children's Hospital in Columbus, OH. *Annette Bakker, PhD, President of the Children's Tumor Foundation and Board Member at NYBIO. More resources and information for you: raredisease.com/nf

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 genetic counseling student completing her masters at The University of Alabama at Birmingham. *Dr. John C. Carey, MD, professor and Vice Chair of Academic Affairs, Department of Pediatrics, at the University of Utah. *Erin Froehner, executive director for the Hope for Trisomy organization, and mother of a child afflicted with Trisomy 18. More resources and information for you: raredisease.com/trisomy13

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:  *Brenna Bentley, a genetic counseling student completing her masters at The University of Alabama at Birmingham. *Dr. Adrian Dobs, lead physician at the Johns Hopkins Clinical Research Network. More resources and information for you: raredisease.com/ks

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 board-certified genetic counselor and graduate of Northwestern University *Dr. Jaime Barea, he is a clinical geneticist at the University of California-San Diego. *Lut de Baere.  She is the President of the Fabry International Network and gave us a deeper look at their organization, which supports patients diagnosed with Fabry disease with events, resources, updated information and much more. More resources and information for you: raredisease.com/fabry