Today is the start of the 17th annual WorldSymposium™ Lysosomal Disease annual meeting. WORLD is the preeminent lysosomal disease research and translational science meeting. Over the last decade and a half, its attendance has grown from a couple of hundred to well over 2,000. MLD Foundation has attended 16 of the 17 WORLD meetings. Unfortunately, […]
Did you know that today, Tuesday, December 1st, is Giving Tuesday? After a month of “Black Friday” and yesterday’s “Cyber Monday” frenzy, it’s a day to focus on our loved ones! We aren’t asking for your donations … MLD Foundation knows that MLD families have their hands full with their loved ones so for the
We heard earlier this week that nearly 4 in 5 people are already looking forward to putting 2020 behind us. The pandemic (family safety, work, school, loss of loved ones, individual and community response, social isolation, etc.), US elections, income, health, … it is affected every one of us, and it’s overwhelming. But we are
Today is Rare Disease Day. It’s an appropriate day to announce we have come one step closer to a MLD Newborn Screen! The pilot study to test the newly developed MLD Newborn assay/technique on current newborn babies born in Washington state will be starting within the next three months once testing lab equipment is in place.
MLD Newborn Screening Pilot Study – Announcement Read More »
Registration for our 2105 MLD Family Conference in Newark Delaware is underway and closes in just a couple of weeks. If you are a MLD Family we’re anxious to have you register. Many of your MLD Family will be there to meet, share, and socialize with. Please bring your MLD loved one with you – we not only want
The requirements for adding a Newborn Screen (NBS) to the RUSP (Recommended Uniform Screening Panel by the SACHDNC/DACHDNC (Secretary’s Discretionary Advisory Committee on Heritable Disorders in Newborns and Children) consists of four primary criteria: An acceptable treatment protocol in place that changes the outcome for patients diagnosed early with the disease An understanding of the condition’s
Newborn Screening – Should a Viable Therapy be a Requirement for a NBS? Read More »
The MLD Foundation is collaborating with researchers at the University of Washington who are working on developing a newborn screen for MLD that would hopefully address the problems encountered with traditional screening approaches caused by the MLD pseudo-deficiency. For their work they need samples of blood and urine from 15 affected MLD individuals. All samples
MLD Newborn Screening – We need your blood & urine! Read More »
I was pleased to be the organizer and host for the RARE Project | Global Genes RARE Patient Advocacy Summit on September 29th, 2012. The day-long event with 140 in attendance and over 120 viewing via a live webcast. Videos of the event are available below for viewing.
Welcome to the MLD Foundation’s new blog! We’re excited to share about topics of interest to the MLD, lysosomal disease, leukodystrophy, and frankly, the entire rare disease community. Many of you in the general public and the MLD Family know us from the family support we provide to families affected by MLD … MLD Family
