Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
The Helicase and Nucleic Acid-based Machine Conference
Sunday, July 21, 2019 -
Friday, July 26, 2019
Location: The Steamboat Grand, Steamboat Springs, CO
Description: Malfunctions of helicases and nucleic acid-based machines are implicated in a number of rare genetic disorders. Specifically, hereditary mutations in helicase genes are linked to rare diseases including Werner Syndrome, Bloom’s Syndrome, Rothmund-Thomson Syndrome, Cockayne Syndrome, Xeroderma Pigmentosum, Trichothiodystrophy, Warsaw Breakage Syndrome, Fanconi Anemia, Dyskeratosis Congenita, Crohn’s Disease, Ophthalmoplegia, and others. This FASEB meeting, which was first held in 2001, examines the roles of these and related helicases in genome metabolism and rare diseases. The meeting is the only one of its kind to focus on the functions, interactions and structures of helicases and helicase-like motors as components of fundamentally important supramolecular machines, and it explores their regulation and key roles in uncommon genetic disorders characterized by defects in DNA repair and genomic stability. The conference brings together a diverse group of academic and industry scientists who focus on the functional roles of helicases and helicase-like motors in pathways of nucleic acid metabolism.
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