Dear NTSAD Community, It’s with mixed emotions that I share with you that after nearly 14 years, I am stepping down from my role as NTSAD’s executive director at the end of October. I am looking forward to starting a new chapter in my life, knowing that NTSAD remains strong. I will help facilitate a smooth transition in leadership and support the board of directors who has initiated the search for my successor.
It has been my great honor to lead NTSAD. I am proud of the extraordinary progress in research as well as our ongoing efforts to put the needs of families first with comprehensive resources, programs, and services. Together, we have accomplished more than I ever hoped when I joined NTSAD in 2007. Currently, there are 14 drug development programs and clinical trials underway, and industry continues to invest in developing therapies for Tay-Sachs, Canavan, GM1 gangliosidosis, and Sandhoff diseases.
NTSAD is one of the oldest and most respected patient advocacy groups in the rare community and remains in a position of financial strength with healthy reserves. I am immensely grateful to our dedicated board of directors and compassionate NTSAD staff.
In addition, NTSAD has a five-year strategic plan in place, and recently broadened research direction focusing on clinical development, early diagnosis, newborn screening, and translational research. During the last two decades, NTSAD invested in much of the early research that has led to today’s drug development programs and clinical trials. Since 2002, NTSAD has awarded more than $4 million in research grants that have been leveraged to more than $30 million in additional grants from the National Institutes of Health and other institutions.
The people, the organization, and my work all mean so much to me. This role has allowed me to connect with inspiring people, starting with the families who allow us to share in the darkest and brightest days of their journey, and who will move mountains to advocate for their child or themselves, support others, and raise money for research. I also have been honored to work closely with brilliant and dedicated experts who are making a brighter future possible through research, clinical care, or developing new treatments. It has been a blessing to meet so many people who have influenced me and touched my heart.
The work continues, and I look forward to celebrating with you when effective treatments are found. My heart will remain with the NTSAD Community, always.
SAVE THE DATE! — Join us June 19-20 and 26-27 for our 35th Annual Family Conference! Taking place virtually, this conference will focus around the theme of remaining connected and the overlap within diagnoses, but highlight and recognize the uniqueness of each through individualized sessions for each syndrome type. The conference features clinicians, scientists, researchers, FDA representatives, advocacy, family support, and much more. More information here, registration information coming soon!
On May 7, 2021, 12:00-1:30 PM Eastern Time (US), the Patient-Reported Outcome (PRO) Consortium’s Rare Disease Subcommittee will hold a complimentary virtual workshop on COVID-19 Mitigation Strategies in Pediatric Rare Disease Clinical Trials. The workshop facilitators will foster an interactive format, with attendees encouraged to share their own challenges and mitigation strategies.
Objectives for the workshop:
Identify challenges to conducting pediatric rare disease clinical trials posed by COVID-19.
Present a range of strategies aimed at limiting the impact of COVID-19 on the conduct of pediatric rare disease clinical trials.
Present a range of mitigation strategies aimed at safely and successfully conducting in-person and remote assessments under pandemic conditions.
Provide an interactive forum for idea sharing related to COVID-19 impact and mitigation strategies across a variety of stakeholders.
The workshop presentation will be recorded and posted to the PRO Consortium’s web page following the workshop. In addition, a document summarizing identified challenges and mitigation strategies in pediatric rare disease trials under pandemic conditions will be posted on the PRO Consortium website for reference.
This course will be held in Kusadasi, Turkey, October 5-10, 2021. This course will focus on lysosome biology and function, new metabolic and signaling insights into the function of lysosomes, pathophysiological mechanisms of lysosomal dysfunction in living cells. This course will bring together Basic Scientists & lab researchers & clinicians working on this unique field on the molecular and cellular aspects of lysosomal storage diseases. This workshop intends to create a scientific platform to discuss advances in the field as well as to establish novel networks among the participants for future collaborations. In order to maximize the opportunities for interactions between young researchers and all participants, the workshop is planned in a dynamic format of plenaries, panels, round-table discussion, poster and oral presentation sessions. A specific meeting slot is allocated for Breakfast & Young Scientists Professional Development. This meeting is a preferential slot which will deal with hot issues in the postgraduate education and further academic and/or industrial careers of young scientists.
Presented by the National MPS Society and the University of Minnesota Division of Clinical Behavioral Neuroscience
Designed for doctoral-level psychologists, trainees, and psychometrists seeing MPS patients in clinical trials, this comprehensive course will provide a robust understanding and increased site readiness in response to the growing number of MPS trials. The Master Class will be held online and via live webinar Nov 12 and 19, with presentations geared to both those who are newly working in MPS and to those with expertise. Participants will have the opportunity to ask questions of world experts and to meaningfully connect with others in their field.
Master Class Faculty include world experts in MPS and cognitive assessment:
Elsa Shapiro, Ph.D.; Curriculum Development, Lead Faculty Julie Eisengart, Ph.D.; Site Educational Director, Lead Faculty Paul Harmatz, MD; UCSF Benioff Children’s Hospital Oakland Stewart Rust, D.Clin.Psy; Royal Manchester Children’s Hospital Kelly King, Ph.D.; University of Minnesota Heather Adams, Ph.D.; University of Rochester Medical School Kendra Bjoraker, Ph.D.; 3:1 Neuropsychology Consultants
Additional expert speakers include FDA representation and patient advocacy leaders
The National Fabry Disease Foundation’s virtual Fabry Education Conference is being held on October 3-4, 2020. Primary attendees are individuals with Fabry disease, family members, and caregivers. Other attendees from clinics and support organizations are welcome and encouraged to attend. Please see the conference guide and the conference website at https://tie.link/fabry. Registration closes on September 27, 2020. For more information, please contact Jerry Walter at firstname.lastname@example.org.
16th Annual WORLDSymposium is February 10 – 13, 2020 in Orlando, Florida, USA. This symposium is designed for basic, translational and clinical researchers, patient advocacy groups, clinicians, and all others who are interested in learning more about the latest discoveries related to lysosomal diseases and the clinical investigation of these advances.