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Top Gaucher Disease News News

Gaucher disease diagnosis speeds up, complications still common

France · France

Gaucher disease diagnosis speeds up, complications still common

People in France are receiving a Gaucher disease diagnosis faster, but many still face complications despite treatment, a study found.Read Article

A week in the life of a working mom, wife, and caregiver

Seward · Seward

A week in the life of a working mom, wife, and caregiver

Last week was a busy one — so busy that I didn’t even have time to think about writing this column. I told my column manager as much. But as the week settled behind me, I realized it was full of moments — some good, some not — that are worth sharing. One highlight was the 46th Annual Moose Pass Summer Solstice Festival, our community’s annual fundraiser. Like many others, I volunteered to help make it happen. We brought food, music, drinks, and …Read Article

Yes, I have Gaucher disease, but I don't feel 'sick'

United States · United States

Yes, I have Gaucher disease, but I don't feel 'sick'

As someone who is generally healthy and asymptomatic, I often feel like my Gaucher disease is tucked away in the back of my mind. Sometimes it creeps back in, reminding me, “Hey, I’m still here” — like when I get my infusion every other week or when my doctor mentions that my bone density still hasn’t improved. But aside from moments like those, I could easily forget I even have the disease. (Doesn’t everyone keep an IV pole and medical supplies…Read Article

New Jersey’s newborn screening identifies babies with Gaucher disease

Researchers said newborn screening for Gaucher disease has the potential to improve clinical outcomes by enabling an early diagnosis.New Jersey · New Jersey Read Article

Motherhood allows no time for a break, even with Gaucher

Columnist Rivka Silver has no time for a break as a mother, even when she's in the throes of her home infusions.Read Article

6 new GBA1 mutations tied to Gaucher type 1: Case series

Researchers discovered six previously unknown mutations in the GBA1 gene that cause Gaucher disease, according to a case series.Read Article

On teaching my children the benefits of volunteering

Last Saturday, my 7-year-old daughter, Violet, and I volunteered with Stream Watch, an award-winning program that takes care of high-use fishing sites on Alaska’s Kenai Peninsula. Stream Watch volunteers pick up litter, collect monofilament from recycling tubes, teach visitors about ethical angling, provide natural history education, and promote bear safety. This mighty cadre removes hundreds of pounds of trash, connects with hundreds of both ne…Volunteering · Alaska Read Article

Wearable and Flexible Electrochemical Sensors for Sweat Analysis: a Review

75% Left coverage: 4 sources

Flexible wearable sweat sensors allow continuous, real-time, noninvasive detection of sweat analytes, provide insight into human physiology at the molecular level, and have received significant attention for their promising applications in personalized health monitoring. Electrochemical sensors are the best choice for wearable sweat sensors due to their high performance, low cost, miniaturization, and wide applicability. Recent developments in s…Parkinson's Disease · China See the Story

10 strategies that help us survive medical travel and appointments

To manage the stress and chaos of medical travel for her young daughter, columnist Marion Glaser prioritizes fun, family, and friends.Anchorage, United States · Anchorage Read Article

Gaucher disease gene therapy FLT201 shows proof of concept

FLT201, a gene therapy for Gaucher disease type 1, led to sustained increases in enzyme levels in animal models, a study showed.Maryland · Maryland Read Article

My unexpected diagnosis with Gaucher disease type 1

When most people imagine being diagnosed with a disease, they picture a cold, sterile doctor’s office and a somber physician delivering bad news. But my story didn’t start like that. I was a healthy kid with no red flags, no strange symptoms, and no reason to think I might have a genetic disease. My diagnosis with Gaucher disease in 2020 came completely out of the blue, triggered by my sister’s prenatal genetic testing. I found out by walking in…Read Article

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