Council of
Patient Advocates
2017 Meeting

The Lysosomal Disease Network’s Council of Patient Advocates (COPA) convened their 2017 meeting on Monday, February 13, 2017. This new 2-part workshop replaced the COPA luncheon meeting held in prior years at WORLDSymposium. The COPA meeting was at the Manchester Grand Hyatt San Diego Hotel in San Diego, California. (This was the 2017 WORLDSymposium location as well.) This session was open to patients, their family members/caregivers, and patient advocacy group representatives who desired an active role in partnering with the LDN to provide input to patient-focused studies and clinical trials. There was no cost to attend this meeting.

4th Conference on
Clinical Research for
Rare Diseases (CCRRD)

On November 3, 2016 the Rare Diseases Clinical Research Network (RDCRN) hosted the 4th Conference on Clinical Research for Rare Diseases (CCRRD) in Washington D.C. The Lysosomal Disease Network’s current fellows Michael Flanagan, PhD; Li Ou, PhD; Reena Kartha, PhD and Kwangchae Yoon, PharmD; and past fellows Zoheb Kazi, MD; Mari Mori, MD; Melani Solomon, MD and Joseph Schneider, PharmD participated in this conference. Goals of the conference included discussing the instruction of new investigators in rare disease research methodology; developing a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.

The following day, the semi-annual RDCRN principal investigators’ meeting, attended by the principal investigators of all of the twenty-two RDCRN research consortia, was held in Washington D.C. LDN principal investigator Chester B. Whitley, PhD, MD presented an overview of a few of the scientific achievements of the Lysosomal Disease Network.

NIH-funded LDN Investigators Meeting

The Council of Research Experts (CORE) – also known as the NIH-funded Investigators, or Lysosomal Disease Network Investigators – met on Friday, March 4, 2016. Presentation slides from the 2016 meeting can be found here.

About LDN Fellowship Applications

Each year the Lysosomal Disease Network invites applications for the LDN Fellowship. The Fellowship supports selected lysosomal disease research at the level of $50,000 for one year. Click here for more information.

Lysosomal Disease Network

Lysosomal diseases are a collection of more than 70 clinical syndromes with incidence rates ranging from1 in 20,000 (Gaucher disease) to 1 in 300,000 (Wolman disease) live births; taken together these conditions are responsible for a significant amount of disability and disease burden.

Testing New Therapies

The rarity of each lysosomal disease means that no single medical research center has an opportunity to see sufficient numbers of patients with any one disease to effectively describe the full spectrum of each disease or adequately test any new therapies.

Combined and Integrated Efforts

The combined and integrated efforts of the LDN focus on creating a network of centers with expertise in one or more of these diseases in order to solve major challenges in diagnosis, disease management, and therapy. Solutions to these problems will have a direct impact on patients suffering from lysosomal disease and important implications for medical practice.

Lysosomal diseases:

aspartylglucosaminuria; Batten disease; cholesteryl ester storage disease; cystinosis; Danon disease; Fabry disease; fucosidosis; galactosialidosis types I, II & III; Gaucher disease types I, II & III; GM1 gangliosidosis (infantile, juvenile, adult-onset); Krabbe disease; alpha-mannosidosis types I & II; beta-mannosidosis; metachromatic leukodystrophy; mucolipidosis types II, III, & IV; mucopolysaccharidosis types I, II, III, IV, and VI (Hurler, Hurler–Scheie, and Scheie; Hunter, Sanfilippo, Morquio, and Maroteaux–Lamy syndromes, respectively); multiple sulfatase deficiency; neuronal ceroid lipofuscinosis (infantile, late infantile, juvenile, adult); Niemann–Pick disease; Pompe disease; Sandhoff disease (infantile, juvenile); Schindler disease types I & II; sialidosis types I & II; Tay-Sachs disease (infantile, juvenile and late-onset); Wolman disease.

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