LDN Fellowship is Now Accepting Applications
The Lysosomal Disease Network is now accepting applications for the LDN Fellowship. The Fellowship period is August 1, 2017 to July 31, 2018. The LDN Fellowship can support currently-ongoing research projects, as well as new research projects. The Fellowship supports selected lysosomal disease research at the level of $50,000 for one year. Click here for more information.
Join the Contact Registry
You (or your child) are invited to participate in the nationwide Contact Registry for lysosomal disease patients. The Rare Diseases Clinical Research Network (RDCRN) offers this patient Contact Registry. This is a method by which patients with lysosomal diseases can register themselves online with the RDCRN in order to be contacted in the future about clinical research opportunities and updates on the progress of the research projects. The contact registry is anonymous and free of charge.
If you prefer, you can find a link to a downloadable, printable Lysosomal Disease Network Contact Registry registration form here by finding the “Join the Contact Registry” heading located on the upper area of that web page.
The Lysosomal Disease Network encourages lysosomal disease patients or their families to register. Because of the rarity of lysosomal diseases, the Contact Registry plays an important role in estimating the incidence and prevalence of these conditions, and in keeping interested persons informed about available clinical research for treatment and cure of lysosomal diseases.
The Council of Research Experts (CORE) – also known as the NIH-funded Investigators, or Lysosomal Disease Network Investigators – met on Friday, February 17, 2017 in San Diego, California. Dr. Rashmi Gopal-Srivastava’s presentation slides from that meeting can be found here (clicking on this link results in a 7.4 MB download to your computer). Dr. Jeffrey Krischer’s presentation slides from that meeting can be found here (clicking on this link results in a 2.8 MB download to your computer).
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. Chester B. Whitley, PhD, MD, LDN principal investigator, presented an overview of a few of the scientific achievements of the Lysosomal Disease Network.
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.
Lysosomal Disease Network
Lysosomal diseases are a collection of more than 70 clinical syndromes with incidence rates ranging from 1 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.
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 and II; beta-mannosidosis; metachromatic leukodystrophy; mucolipidosis types II, III, and 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 and II; sialidosis types I and II; Tay-Sachs disease (infantile, juvenile and late-onset); Wolman disease (lysosomal acid lipase deficiency).