1. CCDS in the News
    March 6, 2024

    Greenbrier County mom works to bring awareness to son’s ultra-rare genetic condition

    February 29, 2024

    Rare Disease Day: Greenbrier Co. family shares battle with GAMT

    February 29, 2024

    “I want Birmingham to know about my little boy’s rare disease” – Mum Kelly shares Oscar’s story for Rare Diseases Day

    July 3, 2023

    The City Journals -Walk for Strength raises funds to cure rare genetic disorders

    June 8, 2023

    WEAU 13 News Walk for Strength Interview

    June 2023

    RARE Revolution Magazine – Heidi Wallis
    “Newborn Screening; the Invisible Health Programme”

    June 2023

    RARE Revolution Magazine – contributor: Heidi Wallis
    “Health Disparities in Newborn Screening”

    April 18, 2023

    RARE Revolution Magazine – Heidi Wallis

    “Patients Partners”

    April 18, 2023

    RARE Revolution Magazine – The Prescher Family’s Story

    “The Balancing Act”

    March 15, 2023

    ARUP Laboratories Article on Creatine Deficiency Research Center

    “ARUP Medical Directors Seek New Diagnostic Tools, Treatment for Creatine Transporter Deficiency”

    February 16, 2023

    ARUP Laboratories Newborn Screening Article

    “Advocates for Nationwide Newborn Screening for GAMT Deficiency Celebrate Important Milestone”

    December 24, 2022

    WEAU 13 News HH 2022 Coverage

    “A Mondovi family works to raise funds and awareness for rare genetic disorder research”

    September 1, 2022

    Buffalo County News WFS Coverage
    “‘Local ‘Walk for Strength’ takes in over $16,000 for CCDS”

    August 15, 2022

    WQOW WFS 2022 Coverage
    “‘Walk for Strength’ to raise money to find cure for CTD”

    July 2022

    Heidi Wallis: The Role of Families in Advancing Newborn Screening (2022 SERN/SERGG Annual Meeting)

    June 25, 2022

    Presentation at PerkinElmer meeting by GAMT parent
    “Why Newborn Screening is so Important – a Parents View”

    June 8, 2022


    “Researchers Report Gene Therapy May Correct Creatine Deficiency Disorder”

    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”

    August 24, 2021

    “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
    “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

    “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”

  2. ACD News Releases
    March 27, 2024

    NEWS RELEASE – ACD Funds nearly $140,000 for research focused on Creatine Transporter Deficiency Treatment

    March 19, 2024

    NEWS RELEASE – ACD Funds $135,000 in Creatine Deficiency Research Fellowship Awards

    June 29, 2023

    NEWS RELEASE – First Baby with GAMT Deficiency Identified Through Newborn Screening in Australia

    March 20, 2023

    NEWS RELEASE – Creatine Deficiency Research Center Funded by ACD Launches at University of Utah

    February 17, 2023

    NEWS RELEASE – ACD Announces Board of Directors Leadership Changes

    February 14, 2023

    NEWS RELEASE – ACD Funds $75,000 for 2023 Creatine Deficiency Research Fellowships

    January 16, 2023

    NEWS RELEASE – U.S. Secretary of Health Recommends Universal Newborn Screening for GAMT Deficiency

    January 13, 2023

    NEWS RELEASE – Dr. Steven Baker Awarded $20,000 Young Investigator Draft Research Grant to Research Cerebral Creatine Deficiency Syndromes

    October 29, 2022

    NEWS RELEASE – The Newborn Screening Ontario Program Begins Screening for GAMT

    September 19, 2022

    NEWS RELEASE – MDHHS adds Guanidinoacetate Methyltransferase Deficiency to newborn screening panel

    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

  3. Insider eNews | ACD Newsletter


    Q2 2024 Newsletter


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