一周的视频提示: MyGene2, 与对方罕见的情况下连接家庭

Last week’s tip encouraged people to think about how their DNA may be used by various stakeholders. This could be researchers, physicians, pharmaceutical companies, 等. But one thing it didn’t really cover–now that I think of it–was connecting with other families who may share variations that impact the health of someone in their household. If there isn’t research, or treatment, this connection alone might be worth it for some families.

So when NPR recently had a story on a database for families with rare genetic conditions, 我去看看: Families Isolated By Rare Genetic Conditions Find New Ways To Reach Out.

该网站是 MyGene2, and it can help unrelated folks who have the same genome challenges connect with each other. It also can connect folks to researchers interested in the topic. But it does seem to be aimed more specifically at families seeking each other. It was recently awarded a chance to compete for the final prize in the Open Science Prize effort, and they got a funding boost to keep going.

有一 “欢迎” video that they’ve made, but it’s light on the software details. 仍, 虽然, I wanted to share the information so families may find it, and researchers may want to know about this resources as well. The video isn’t embeddable, 虽然, so you’ll have to click to view it:


You can learn more about the resources from their FAQ collection. I’ve found a couple of references (下面) that provide some further information about the project [注意:: 的 医学遗传学 one goes to a paywalled, 片–but you can access the pre-print version PDF at bioRxiv]. As more and more families who are seeking answers will have sequencing information available, they’ll need a place to go with that. I hope they find each other, and find answers.




Find them on Facebook:

(该 医学遗传学 piece also notes, “a web-based tool for managing return of genetic test results”.)


Panko, 乙. (2016). Six finalists to compete for Open Science Prize 科学 分类号: 10.1126/science.aaf9980

Chong, j的, 于, j的, Lorentzen, 体育, 公园, 光, Jamal, 学, Tabor, 阁下, Rauch, 答:, Saenz, 米, Boltshauser, 大肠杆菌, Patterson, 光, 尼克森, 四, & Bamshad, M. (2015). Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features 医学遗传学 分类号: 10.1038/gim.2015.161