hDEC2 Mutations

[Tiffany Stenderup]

Hello, 

I was hoping you could point me in the right direction. I’m looking for who ever is currently doing the research into the hDEC2 Mutations. Everything I have found so far has let me to the UCSC page where I found this email address. 

I am interested in this study. I may have an hDEC2 Mutation. If you have any information that will help me locate the team currently working on this I would greatly appreciate it. 

Thank you for your time,

Tiffany Stenderup

[Brian Lee]

Dear Tiffany,

Thank you for your question about hDEC2 mutations. The Browser is a place were a vast amount of data can be viewed from laboratories across the world. We do not have any connection with the source researchers that are doing these studies.

You can, however, probably find the mutation you are interested in learning about on the Browser, to discover related data that may help you better understand what you are investigating. For instance, here is a session that points to a DEC2-P385R mutation described in wikipedia, that perhaps you are referencing: http://genome.ucsc.edu/s/brianlee/FNSS_Familial_Natural_Short_Sleepers

That shows the single point mutation that changes an amino acid that appears to trigger a condition called FNSS for Familial Natural Short Sleepers. A clinical variants interpretation track (ClinVar SNVs submitted interpretations and evidence) has a grey item (below the red item) near the top. Mousing over the variant gives some information, and clinking into it gives links to further resources. Of note is a link to the ClinVar Variant ID, NM_030762.3(BHLHE41):c.1151C>G (p.Pro384Arg), which in turn brings you to this page: https://www.ncbi.nlm.nih.gov/clinvar/variation/4530/?new_evidence=false

On that page that you can find a "Citations for this variant" section that points to these PMID publications:
https://www.ncbi.nlm.nih.gov/pubmed/19679812
https://www.ncbi.nlm.nih.gov/pubmed/25083013

If indeed this is the mutation you are discussing, these published papers will have authors you can contact (expand "author information") and you'll find email contacts. Also, looking to the wikipedia page you will also find a reference section with publications and PMIDs links, where you could also find who is currently doing the research into mutations in hDEC2 (a gene also known as DEC2, BHLHE41, and SHARP1).

We are not qualified to offer any medical advice or interpretation. However, we can provide other resources that may be helpful to answer your questions.

NIH Genetic and Rare Diseases Information Center:
https://rarediseases.info.nih.gov/guides/pages/96/patients-families-and-friends

National Society of Genetic Counselors:
https://www.nsgc.org/findageneticcounselor

National Organization for Rare Disease Disorders (NORD):
https://rarediseases.org/contact-us/

NIH Undiagnosed Diseases Network:
https://undiagnosed.hms.harvard.edu/

My Gene2:
https://mygene2.org/MyGene2/families

Disease Info Research:
https://www.diseaseinfosearch.org/pages/learn-more

Be a research participant in CZI's Rare as One:
https://chanzuckerberg.com/uxresearch/

OrphaNet Search for Support Groups (can limit search to a specific country, such as Poland):
https://www.orpha.net/consor/cgi-bin/SupportGroup_Search_Name.php?lng=EN

OrphaNet list of "European reference networks (ERNs)" that help coordinate research for various types of disease (such as neurological disorders and more):
https://www.orpha.net/consor/cgi-bin/Clinics_ERN.php?lng=EN

EuroDis - Non-profit collection info on a range of rare disease foundations across Europe (and can be used to search for support groups in various countries):
https://www.eurordis.org/

All the best,

--

---
You received this message because you are subscribed to the Google Groups "UCSC Genome Browser Public Support" group.
To unsubscribe from this group and stop receiving emails from it, send an email to genome+un...@soe.ucsc.edu.
To view this discussion on the web visit https://groups.google.com/a/soe.ucsc.edu/d/msgid/genome/CAEXNHKFcA2-xPj4-%2Bq0PiaSRNFQjun3uKywfNWysmH_A15-emA%40mail.gmail.com.