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CCDS in the News
February 28, 2022
Comment from Rare Disease Groups to FDA
ACD joined with 41 other rare disease organizations and submitted a comment in response to the FDA’s draft document regarding the use of patient registries to support regulatory approval. In our comment, we shared our experiences with our patient registries and suggested ways regulators, patient organizations, and industry can work together to leverage the potential of real-world data (RWD) and translate it into real-world evidence (RWE) in support of research and regulatory approval of rare disease therapies.
February 9, 2022
Southeast Regional Genetics Network
“Pathway to Newborn Screening Facilitated by Collaborations with a Parent Organization A Case Scenario: GAMT Deficiency”
December 16, 2021
Open Access Government
“Genetic disease treatment research for creatine deficiency”
May 13, 2021
Open Access Government
Today’s challenge of treating genetic diseases”
August 24, 2021
WBTV
“Walk for Strength raises funds, awareness to find cure for creatine deficiencies”
February 5, 2021
USA TODAY CCDS Story #6
“Speech delays may have a cause, genetic testing is recommended”
January 14, 2021
Global Genes
“Rare Leader: Heidi Wallis, President, Association for Creatine Deficiencies”
January 11, 2021
ARUP Laboratories
“ARUP – Developed Newborn Test Dramatically Changes Baby’s Life – But It Almost Didn’t Happen”
January 7, 2021
Utah Public Radio
“Utah Identifies Rare Disorder in Newborn Screening For First Time”
January 4, 2021
USA TODAY CCDS Story #5
“How a critical screening kept a little girl from a lifetime of disabilities”
December 30, 2020
KSL News Radio
“Newborn screening catches serious, but treatable, GAMT disease for the first time”
December 30, 2020
Utah Department of Health
“Newborn Screening in Utah Identifies First Baby Born with GAMT”
December 30, 2020
ABC4.com
“Utah DOH identifies first baby with inherited disorder that primarily affects brain, muscles”
November 30, 2020
USA TODAY CCDS Story #4
“A Mother’s Fight for Genetic Testing led to Help for her Babies”
November 4, 2020
USA TODAY CCDS Story #3
“Parents find the cause for their son’s speech delay with a genetic test”
September 30, 2020
USA TODAY CCDS Story #2
“Parents solve the diagnostic mystery for adopted son”
September 18, 2020
USA TODAY CCDS Story #1
“A simple heel prick screening changes children’s lives”
February 4, 2020
SAN DIEGO BUSINESS JOURNAL
“Carlsbad Nonprofit Awarded $450K Chan-Zuckerberg Grant”
December 5, 2018
BBC NEWS – News Article
“Faster diagnosis from ‘transformational’ gene project”
GAMT article featuring Hana Young
November 8, 2018
KUTV 2NEWS – Video
“Stored baby blood allows states to develop new blood tests, officials say”
View Heidi Wallis and her family featured on ‘Get Gephardt’
October 25, 2018
Intermountain Primary Children’s Hospital Grand Rounds – Video
“Brain creatine deficiency: Why newborn screening is important”, with presentations by Dr. Nicola Longo, Dr. Marzia Pasquali, and Heidi Wallis
March 6, 2018
Toronto Hospital for Sick Children Pediatric Grand Rounds
“Inborn Errors of Creatine Metabolism- It’s Not the Muscle, but the Brain”
View Dr. Schulze’s Presentation Here.
See the Overview PDF Here.
March 23, 2017
Primary Children’s Hospital – Blog
“Solving the Puzzle of GAMT Deficiency”
March 2017
ARUP Magnify Spring 2017 – Article
Special GAMT section, pages 8-13
March 2017
Child Neurology Foundation- “Rare Neurological Disease Special Report”
special CTD report, by Dr. Simona Bianconi, pages 50-51
Read the Report
February 1, 2017
Lumos Pharma launches creatine deficiency awareness website
Visit the Site
December 5, 2016
NBC affiliate KSL – Video
GAMT feature, “Bluffdale Family Helps Develop Test for Rare, Inherited Disorder”
November 30, 2016
University of Utah Health Sciences – Article
Algorithms for Innovation, GAMT feature- “A Lifetime Commitment”
November 3, 2016
Deseret Newspaper – Article
“Utahn’s Quest to Add Disorder to National Newborn Screening Dealt Setback”
November 2, 2016
Deseret Newspaper – Article
“Utah mom, doctors push to add rare disorder to national newborn screening panel”
June 21, 2016
Lumos Pharma appoints Carol A. Dutch as Senior Director, Patient Engagement
Read the Announcement
May 12, 2016
Spectrum News – Video
GAMT feature- “Family, Doctors Pushing for GAMT Deficiency Testing in Newborns”
April 6, 2016
Lumos Pharma Raises $34 Million in Series B Financing
Read the Announcement
October 29, 2015
The Jackson Laboratory- CTD feature “Cyclocreatine Normalizes Cognition in Creatine Deficient Mouse”
Read the Article
July 1, 2015
Utah begins Newborn Screening for GAMT
Read the Announcement
May 5, 2015
Austin Business Journal- “Startup Austin biotech firm nabs $19.5M for drug development”
Read the Article
February 27, 2015
Texas Children’s Hospital – Blog
“National Rare Disease Awareness Week: My Son’s Story”
December 10, 2014
ABC News – Video
“Mother’s Intuition Leads to Rare Diagnosis for Son”
June 7, 2014
ABC7 Chicago – Video
“Creatine Deficiency Among Disorders Underdiagnosed, Researchers Say”
February 5, 2014
BioNews Texas- “Creatine Transporter Deficiency Treatment By Lumos Pharma To Enter Testing, Thanks To $14 Million Series A Financing”
Read the Article
July 2, 2012
Journal of Clinical Investigation- “Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency”
Read the Report
July 2, 2012
Neuroscience News- “Researchers Report Success in Treating Autism Spectrum Disorder”
Read the Article
February 9, 2010
WRAL TV- Video
“Duke Lab Tests for Rare Genetic Disorders”
January 18, 2010
CheckOrphan.Org – Article
“A Success Story: Family Hopes to Raise Awareness about Creatine Deficiency Disorder” -
ACD News Releases
May 13, 2022
NEWS RELEASE – Association for Creatine Deficiencies Announces the Advancement of Universal GAMT Newborn Screening for Approval by U.S. Secretary of Health
April 7, 2022
NEWS RELEASE – Association for Creatine Deficiencies Announces Second
GAMT Gene Therapy Grant Awarded to Dr. Gerald Lipshutz
February 1, 2022
NEWS RELEASE – ACD Funds Over $100,000 for Creatine Deficiency Research Fellowships
January 10, 2022
NEWS RELEASE – ACD Expands with Addition of Executive Director, Board Chair & Director of Compliance
November 9, 2021
NEWS RELEASE – PCORI Funding Awarded to Association for Creatine Deficiencies
October 13, 2021
NEWS RELEASE – Dan Coller Joins the ACD Board of Directors
August 12, 2021
NEWS RELEASE – GAMT Deficiency Advances Towards Universal Newborn Screening
July 15, 2021
NEWS RELEASE – ACD Selects Dr. Olivier Braissant for Gene Therapy Advancement Award
March 15, 2021
NEWS RELEASE – ACD and NORD Launch the CreatineInfo Registry and Natural History Study of Cerebral Creatine Deficiency Syndromes
February 8, 2021
NEWS RELEASE – Randy Allen Joins Association for Creatine Deficiencies as Vice President and Director of Impact and Donor Relations
February 1, 2021
NEWS RELEASE – ACD Awards Over $100,000 to Cerebral Creatine Deficiency Syndromes Researchers
January 12, 2021
NEWS RELEASE– Erin Coller Joins the Association for Creatine Deficiencies as Director of Communications
December 30, 2020
NEWS RELEASE– First Baby with GAMT Deficiency Identified Through Newborn Screening
October 2, 2020
NEWS RELEASE– Association for Creatine Deficiencies (ACD) Awards Dr. Gerald Lipshutz Ph.D., with their Gene Therapy Advancement Award (GTA)
July 28, 2020
NEWS RELEASE– Association for Creatine Deficiencies (ACD) Awards Dr. Laura Baroncelli, Ph.D., the First Gene Therapy Advancement Award (GTA)
July 22, 2020
NEWS RELEASE– Celeste Graham Joins Association for Creatine Deficiencies as Director of Education
February 3, 2020
NEWS RELEASE– Association for Creatine Deficiencies (ACD) Receives $450,000 CZI Rare As One Grant
January 15, 2020
NEWS RELEASE– The Association for Creatine Deficiencies Welcomes Heidi Wallis as President
July 27, 2018
NEWS RELEASE– Association for Creatine Deficiencies Expands Patient Insights Network to Enable Data Sharing with ClinVar
July 11, 2018
NEWS RELEASE– Laura Trutoiu, Ph.D. Joins Association for Creatine Deficiencies as Director of Research
November 21, 2017
NEWS RELEASE– ACD Announces Addition of Dr. Andreas Schulze to Scientific Medical Advisory Board
November 9, 2017
NEWS RELEASE– ACD Applauds Quest Diagnostics Laboratory’s Addition of Creatine Disorders Panel
October 26, 2017
NEWS RELEASE– ACD Welcomes Dr. Yiumo Chan to the Scientific Medical Advisory Board
October 19, 2017
NEWS RELEASE– Greater Goods Roasting Launches Coffee Blend in Support of Creatine Deficiencies
October 9, 2017
NEWS RELEASE– Texas Benefit Concert Raises $50,000 for Creatine Deficiency Syndromes
October 1, 2017
NEWS RELEASE– The State of Michigan is Considering Screening Newborns for GAMT Deficiency
September 11, 2017
NEWS RELEASE– The State of Georgia is Considering Screening for a New Disorder in Newborns
April 1, 2017
NEWS RELEASE– Association for Creatine Deficiencies Announces New President and Board of Directors
March 28, 2017
NEWS RELEASE– Association for Creatine Deficiencies Welcomes New Board Member
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