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J U L Y   2 0 1 9
Newborn Screening Update
S U M M E R   2 0 1 9

Newborn screening of rare disorders still tends to be a big debate and now gene sequencing has the possibility of giving the medical community the ability to detect hundreds of treatable rare disorders, immediately after birth.  

In a recent article, Laura Milko, Ph.D., Associate Director of the Program for Precision Medicine in Health Care at the University of North Carolina School of Medicine said, “Out of all the additional information we can provide through genomic sequencing, which could potentially be hundreds of conditions that might develop, what do parents want to learn, and what information would be most appropriate to provide?"

The ACD actively advocates that conditions like AGAT and GAMT are indeed serious and require immediate treatment as infants.  In addition, these and others with safe and effective treatments should be among those identified and communicated to parents as early as possible.  

Click here to learn about what is being discussed in the medical community about genetic newborn screening, and what needs to be done.

Ongoing Efforts and How You Can Support CCDS Research:
C C D S  B I O B A N K I N G  S U R V E Y
ACD is excited to partner with Coriell, a world leader in biobanking (the collection of biosamples for research purposes), to collect and store cells from patients with Cerebral Creatine Deficiency Syndromes in support of research.  Learn more about what this means and how to participate in the blog post “Coriell Biobanking Opportunity”.

S U R V E Y  R E S E A R C H  I N  C T D  E X P A N D S  T O  I N C L U D E  
I N T E R N A T I O N A L  P A T I E N T S
Ultragenyx is currently conducting a survey to better understand CTD from the perspective of the parent/caregiver and has recently expanded participation to include UK, Germany, Netherlands, Australia, and France. The data collected from this survey will help researchers, doctors and others better understand the way CTD patients feel and function and what matters most in terms of a potential treatment. This information will be made available to the patient, medical, and scientific communities and to anyone interested in learning more about the disease, including those interested in pursuing a potential treatment for CTD. Click here to learn how to participate.
CCDS Conference in Rotterdam
S E P T E M B E R   6 - 7

Xtraordinaire and the ACD invite you to the Inborn Cerebral Creatine Deficiency Syndromes Symposium on September 6-7 in Rotterdam, Netherlands. This European symposium will be co-located with the Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Meeting. To learn more and register, click here.
CNS Annual Meeting
O C T O B E R   2 3 - 2 6

ACD is excited to be exhibiting at the 48th Annual Meeting of the Child Neurology Society in Charlotte, NC! We look forward to meeting child neurologists and professionals in other fields of study related to neurologic and neurodevelopmental disorders in children and adolescents.
ACMG Annual Clinical Genetics Meeting
E V E N T  R E C A P

The ACD exhibited at the 2019 ACMG (American College of Medical Genetics and Genomics) Annual Clinical Genetics Meeting. This meeting offered the opportunity for the medical genetics community to come together and learn about the latest research, therapies and practical implementation.

Heidi Wallis, ACD Vice President and Laura Trutoiu, ACD Director of Research, were in attendance.

DIA Global Annual Meeting
E V E N T  R E C A P

DIA is designed to foster the international exchange of actionable insights to improve health globally through the advancement of lifesaving medicines and technologies. Laura Trutoiu, ACD Director of Research, was the chair of a panel at this meeting, speaking about collecting better patient experience data.

ACD Ambassadors, Celeste and Erin, and ACD Director of Advocacy, Kim Tuminello, were also in attendance.

World Orphan Drug Congress USA
E V E N T  R E C A P

The World Orphan Drug Congress is a global gathering of 1,500 leaders in orphan drugs from 50 countries, focusing on the most pressing challenges and opportunities to bring rare disease therapies to patients faster. Laura Trutoiu, ACD Director of Research, discussed the benefits of having three rare diseases under one umbrella.

CCDS Workshop at SIMD Annual Meeting
E V E N T  R E C A P

The ACD hosted an informative workshop at the 2019 SIMD Annual Meeting, where researchers and medical professionals presented state-of-the-art research on Creatine Deficiencies with the goal of facilitating collaboration across different medical domains. A specific goal of the workshop was to present and reach consensus on newly developed Recommended Treatment Protocols for all three Cerebral Creatine Deficiency Syndromes: CTD, GAMT, and AGAT.
Be A Champion For CCDS...
Volunteer Today!

We are very thankful for the endless efforts of the volunteers that help ACD. From researching information, blogging, helping run our Symposium, and offering professional services- we are grateful for all the support we’ve received. If you have an interest in volunteering on a one-time or regular basis, please email us at Some types of volunteer work include: Blogging, Fundraising, Web Design, Graphic Design, Social Media, and Advocating in your state (and nearby states) for CCDS awareness and newborn screening.

When shopping select “Association for Creatine Deficiencies" as your charitable organization, or use this link, and a portion of your purchases will go to ACD. Thank you for your support!
Copyright © 2019 Association for Creatine Deficiencies, All rights reserved.

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