Rare Genomics Institute is a a nonprofit organisation that uses crowdsourced funding to help find cures for children with rare diseases.
They are offering a free e-book with inspiring family case studies, interviews from experts and information in a Parent’s Toolkit.
The book includes many interviews with genomics experts:
- Dr. Ada Hamosh of Johns Hopkins shares her advice for parents of kids with rare diseases
- Dr. Emil Kakkis develops drugs for rare diseases
- Dr. Kary Mullis, Nobel Prize winner, shares advice for rare disease parents
Remarkable stories from families living with rare diseases:
- Amylynne Volker’s son was the first child saved through DNA sequencing
- Police officer, Mark Dant, raised over $3M for research that saved his son Ryan’s life
- Retta Beery’s twins are alive due to her own exhaustive medical research and genomics
Findacure have launched their first ever online fundraising campaign here.
And they are asking for your help and support in order for it to be a success.
They are raising money for work with fundamental disease patients. Patients are often overlooked, isolated, and neglected due to the rarity of their conditions. Many go through life without ever meeting another person with the same condition. If patient groups are set up, they usually only offer basic support and do not have the time to expand the organisation.
See here for more details.
This week Pete and myself are off to Cologne for this very special meeting.
There is an excellent program ECM SYMPOSIUM PROGRAM 21_01_14 including a few talks on rare diseases such as aggrecan and chondrodysplasia (Anders Aspberg), COL10A1 and the UPR (John Bateman), laminin and muscular dystrophy (Madeleine Durbeej-Hjält).
Spent some time this week experimenting with the MATERIALS section in the Electronic Lab Notes (ELN) that are being develop by Certus Technologies.
I am happy to say that as a lab we have moved completely away from paper-based lab books and are now fully engaged with ELN.
A quick screen shot of my own ELN…………..
We have recently had the “MATERIALS” section made available, which will prove vital for cataloguing all our samples and reagents. Let’s face it how many times do you go into a fridge or freezer and have no idea what each tube is!
This new function will allow us to catalogue and record all the reagents and resources that we have in the lab. For example, if we get a new antibody and spend time validating and optimising it (note to Santa Cruz), then that information will be recorded and available online for future reference. It will also link through to the PROTOCOL section of ELN so that we can record what reagent was used in which experiment…….providence!
We can also label each item with a unique QR code that links through to the appropriate ‘material’ web page and hence onto protocols and experiments.
And once we get the size right………………. bingo!