AMC is proud to announce

the 2nd Annual World Rare Disease Day

Conference

February 26, 2014
1:00-5:00 PM
Hilton Garden Inn Albany, NY

Topic: Pediatric Rare and Complex Diseases
Planning a Diagnostic and Care Management Process
A Community Discussion led by:

Panel

Natasha Shur, MD Division Head Genetics
Patricia M. Hopkins, MD Division Head, Pediatric Hospital Medicine
Melody Palange, Program Director, Children’s Health Network
Kelly Gross, Coordinator-Participatory Family Centered Model
Moderator: Ed Fennell, Coordinator AMC Rare Disease Forum and President of NYS Rare Disease Alliance

This forum is an opportunity for parents,regional agencies and professionals to participate in building a leading edge Family Centered Medical Home for children with complex diseases. Please join us and help us initiate a regional program worthy of duplication around the state and nation. Please forward this announcement to your colleagues.

Contact: Ed Fennell 518-729-4262 H
518-285-9701 C
RSVP: efennell43@gmail.com

A year ago I was reading the NY Times and came across an article about Dr. Gurpreet Dhaliwal associate professor of clinical medicine at the University of California, San Francisco. According to the article he is somewhat of a diagnostic genius

The article mentioned he used a .diagnostic tool called Isabel. I called the firm and over the year we have stayed in touch. I learned that the product had great merit but was limited in focus on rare diseases. In fact it was minimal, having only about 250 of the thousands of rare syndromes.

That was shock to me. My limited research lead me to believe that the number was 7000-8000 and growing. So about six months ago I reached out the RPI Center for Open Source Software. An adjunct professor at the school responded and the RPI SUNY Albany Hackathon for Rare Disorders was born. Every month on a Saturday students and professors, who are large data base specialists gather (usually 6 to 10) scour the world for data bases that are relevant to rare disease diagnostics. They are led by a large international software firm (Kitware) who specializes in medical applications, disease detection and analysis. It has already gotten some national recognition.

Recently we identified a free and open source data base within the European Unions organization dedicated to rare diseases, called Orphanet. It contained over 55,000 classifications of rare diseases. When we opened the file we realized instead of the usual 7000-8000 expected it included genetic sub classifications leading to the 55,000 types. The bonus was finding the interactive descriptive glossaries,dictionaries and genomic data that accompanied the file.

Over the ensuing weeks I discussed the find with the diagnostic firm Isabel and was informed this week that they will be phasing in the the Orphanet data bases.

Mark 2/26/14 in your calendar for the 2nd Annual AMC Rare Disease Day Forum.

Happy Holidays to all

Albany Medical Center’s Rare Disease Forum
and
New York State Rare Disease Alliance

Family, Friends and Colleagues,

February 26, 2014 will celebrate the Second Annual World Rare Disease Day Conference. It is an expanded version. The cost of that program and our start-up costs brings me to ask if you could make a donation. I have set up a NYS Rare Disease Alliance Inc account. Donations can be made through PayPal, where you can use your PayPal account or major credit card. Simply check the bottom of the screen for that alternative. To donate click the symbol:

Since February of 2013 we have enjoyed progress that I wouldn’t have thought imaginable when I first considered starting a rare disease support group. We are in the planning stages of starting both an inpatient and an outpatient clinic; one in Albany Medical Pediatric Unit and one in concert with the Center for the Disabled. We have some award winning filmmakers considering documenting some of these ground breaking efforts; we have incorporated the NYS Rare Disease Alliance; we have the contributed support of two law firms; an initiative with RPI, and SUNY Computer Schools and Kitware Inc designing a rare disease application that will a a mobile reference library for medical records and rare disease information. RPI and SUNY Albany are considering a proposal to make this region one of Country’s leading centers of rare disease science by organizing a consortium of the regions life science schools and research institutes. And soon I will be meeting with local congressmen to go over a rare disease policy strategy I was asked to submit. We also have a web page; for now it is light on content, but it will grow (NYSRDA.com).

Happy Holidays,

Ed Fennell