Results are in for #Mark4Rare week, citizen science for rare disease

As many of you already know, Mark2Cure is currently focused on the literature space surrounding NGLY1-deficiency due to the concerted effort this rare disease community made in helping us complete our beta study. However, there were a several members of other rare disease communities (like Hashimoto’s, Cystic Fibrosis, Cystinosis, Duchenne’s and others) who have also contributed greatly to our project in the past.

While we wish that we could expand our literature scope to include all these different rare diseases, the Mark2Cure community hasn’t grown large enough to support THAT much literature, and Mark2Cure is still very much an experimental model. As Mark2Curators, you have been helping us look for genes, diseases, treatments, and the relationships between these concepts which we hope will yield clues for finding new treatments for NGLY1-deficiency. More importantly, you have been helping us build a platform which we hope can be extended to other disease areas so that EVERYONE can one day help with research on the diseases that affect them while learning more about their disease from the most reliable source of information available—the scientific literature. Your bug reports, questions, criticisms, and other feedback has been instrumental for the incremental improvement of Mark2Cure; and we hope that (with your help) we can continue to refine Mark2Cure into something of value to everyone. Mark2Cure is committed to open source in the hopes that we will someday reach a point at which other disease researchers will find Mark2Cure useful, create their own instances of Mark2Cure, build their own communities of citizen scientists, and contribute to the annotation of biomedical literature.

But, we are still a long way from this point.

In the meantime, we have contributors who and are annotating in the NGLY1-deficiency space--some do it for fun, others because they’re bored or curious, and others still (especially those who have loved ones afflicted by other diseases) because they also share our hope for reaching that point.

As always, we are grateful to all our Mark2Curators no matter the reason they choose to contribute; however, as it is Rare Disease Day, we would like to share about the rare diseases (outside NGLY1) that our Mark2Curators care about. That said, let’s have a quick look at the results of our #Mark4Rare week.

Only a handful of users opted to have their contributions count towards #Mark4Rare event:

HashisNMe, a long time contributor to Mark2Cure and a strong advocate for the HESA community signed up for Hashimoto’s Encephalopathy.
Jamesian, also an early contributor to Mark2Cure signed up for Duchenne Muscular Dystrophy.

“My nephew has this disease, which is caused by a great variety of genetic mutations, not just one. He's slowly dying. He's 11 and I've watched his muscles slowly weaken so that he went from walking to not being able to walk. His hands are losing strength. There is no cure, but a concentration of information about the molecules and metabolism surrounding the dystrophin protein might help.”
Darkversev, a consistent contributor since 2016, signed up for Amyotrophic Lateral Sclerosis and Lafora Disease.
ckrypton, also a long time and prolific contributor signed up for any under-researched rare disease. ckrypton (like many in our community) is ‘just here to help’.

During the #Mark4Rare week, 745 relationship annotations derived from 213 abstracts were submitted by 9 users. ckrypton was the top contributor of relationship annotations, submitting 345 annotations. She was followed by Judy_E who contributed 245 relationship annotations that week. 1346 genes, drugs, and treatment annotations from 36 different abstracts were submitted by 6 contributors that week. Darkversev submitted over half (748) of those annotations, while a new contributor (allenlistar) contributed 286!

Based on these results, we will be sharing about ALS, Lafora disease, and rare disease in general for Rare Disease Day.

Why care about rare? In addition to the fact that there are over 6000 rare diseases affecting ~30 million people (edit- in the US), the study of rare diseases is important because everything in the biological research space is related somehow. Hence, studies in rare diseases have yielded important insights on other diseases.