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Light Up For Rare at the Hospital of University of Pennsylvania Pavilion

Featured on Penn Medicine News and Penn Today

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On Monday night, we lit up the Pavilion for #RareDiseaseDay to shine a light on rare conditions and the need for increased access to medical treatments. Thanks to @Penn student Magnolia Wang and genetic counselor Stephanie Asher for leading this effort. @RareDiseases pic.twitter.com/R05r4xQUs6
— Penn Medicine (@PennMedicine) March 2, 2022

Presented on leadership of STAC3.org and Lumbee Tribe quality-of-life research at Global Genes Rare Health Equity Summit

Joined Rare and Ready Coalition to improve access to medication for rare diseases through legislation

Excited to welcome https://t.co/X1iZ9u1z2Z to the coalition! They research the #raredisease Native American myopathy (NAM) and are proud to join our efforts to address Medicaid access challenges.
— Rare & Ready: A Genetic Condition Coalition (@rare_ready) April 8, 2022

We are excited to join the efforts of Rare & Ready Coalition @rare_ready and @BioMarin in improving access to medicines for rare conditions through legislation! #Advocacy #RareDisease https://t.co/gPk5dECWSm
— STAC3.org (@Stac3org) April 9, 2022

Light Up For Rare at the Livingston Township Hall

Recognized by Livingston Township of NJ and received honorary Proclamation on behalf of Mayor Edward Meinhardt

PennScience Annual Speaker Series 2022- NORD Rare Disease Day

Help to expand genetic screening and find a cure for STAC3 Disorder!

Raise awareness by sponsoring symposium on NAM

Gather medical geneticists, pediatricians and scientists to discuss recent advances in disease biology and clinical research at ACMG (American College of Medical Genetics) and AAP (American Academy of Pediatrics) annual meetings

Expand genetic screening

Provide genetic counseling to Lumbee tribe members and make genetic testing accessible

Support gene therapy development

Advocate the unique medical needs at ASGCT (American Society of Gene & Cell Therapy); lobby biotech and pharmaceutical industry to develop gene therapy for the cure of the condition

Help fundraise for STAC3 by hosting parties, sports gatherings, or culinary events!

A few ideas:

School bake sale
Town-wide basketball, baseball, or soccer tournaments
Marathon, half marathon, or 5K events in recognition of STAC3 Disorder
Organizing a fitness fundraiser with Zumba, CrossFit, spinning, or yoga
Hosting wine tastings, dinner parties, or holiday galas
A wonderful way to turn an event into a successful fundraising endeavor is to ask guests to bring a donation in the amount they planned to spend on a gift

NAM Databank

Article Topic	Title	Source
Medical literature	Malignant hyperthermia in a three-month-old American Indian infant	www.pubmed.ncbi.nlm.nih.gov
	Congenital myopathy with cleft palate and increased susceptibility to malignant hyperthermia: King syndrome?	www.pubmed.ncbi.nlm.nih.gov
	Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia	www.pubmed.ncbi.nlm.nih.gov
	Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome	www.pubmed.ncbi.nlm.nih.gov
	STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility	www.pubmed.ncbi.nlm.nih.gov
Research literature	Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy	www.pubmed.ncbi.nlm.nih.gov
Research literature	Stac adaptor proteins regulate trafficking and function of muscle and neuronal L-type Ca2+ channels	www.pubmed.ncbi.nlm.nih.gov
Medical and genetic diagnostic centers	UNC Adult Genetics Clinic	www.med.unc.edu
	Pediatric Genetics & Metabolism	www.uncchildrens.org
	Blueprint Genetics	www.blueprintgenetics.com
Lumbee tribe	Lumbee Tribe of North Carolina	www.lumbeetribe.com
	What Makes Someone Native American?	www.washingtonpost.com
	A Native American Community in Baltimore Reclaims Its History	www.smithsonianmag.com