Latest News
Treat Rare Diseases With the Same Urgency as COVID, Expert Panel Urges
New Insights Into Brain Weight and Cholesterol Homeostasis in LAL-Knockout Mice
Metabolic Adaptations in Lysosomal Acid Lipase Deficiency
Lysosomal Acid Lipase Deficiency May Affect Fetuses in Utero
Should LAL-D Be Investigated in Patients With Cryptogenic Liver Disease?
New Collaboration Could Facilitate Rare Disease Diagnosis
Lysosomal Storage Disorder Patients Unaffected by COVID-19 Restrictions in Israel
Early Signs and Symptoms of Lysosomal Acid Lipase Deficiency
NORD Panel: Significant Breakthroughs Occurring in Rare Disease Treatment
Latest Clinical Trials
July 15, 2021
July 15, 2021
July 15, 2021
Features
CORD Aims to Improve Diagnosis, Drug Access for Canada’s Rare Disease Patients
The Canadian Organization for Rare Disorders advocates for better diagnosis and drug access for Canada’s 3 million people with rare diseases.
Gene Therapy May Offer Hope for Patients With LAL-D, a Disease With No Known Cure
Researchers are investigating gene therapy for use in the treatment of lysosomal acid lipase deficiency (LAL-D).
Israel Emerges as Global Powerhouse in Rare Disease Research
TEL AVIV, Israel — On the 6th floor of Schneider Children’s Hospital in the Tel Aviv suburb of Petah Tikva, 30 children with Alagille syndrome and 2 with lysosomal acid lipase deficiency (LAL-D) receive specialized treatment from a trio of pediatric hepatologists. Across town, at Sheba Medical Center’s Edmond and Lily Safra Children’s Hospital, pediatric…
LAL-D Therapy Proves to Be a Lifesaver for 4 Michigan Brothers With the Rare Disease
Lysosomal acid lipase deficiency (LAL-D) affects fewer than 1 in 50,000 people. But when it comes to rare diseases, Michigan schoolteacher Rebecca Trendy seems to have hit the jackpot. All 4 of her sons have LAL-D — an inherited liver disease that renders the body unable to digest fats. “It’s been quite the medical journey…
NORD Recognizes Progress in Fight Against Rare Disease With 2021 Rare Impact Awards
Under COVID-19’s lingering shadow, the National Organization of Rare Disorders (NORD) has presented its 2021 Rare Impact Awards to 24 pharmaceutical firms, researchers, politicians, and nonprofit groups for their efforts over the past year on behalf of patients with such illnesses. The virtual ceremony was hosted by John Whyte, MD, MPH, chief medical officer at WebMD, with commentary…
LAL-D Clinical Insights
The Impact of LAL-D on Bone Growth and Development Comes to Light
We know the classical symptoms of LAL-D, but what does it have to do with bone health? We explore this question and more.
Lessons From a Case Study of Wolman Disease
Wolman disease is a rare autosomal recessive disorder that results in the complete functional loss of the acid lipase enzyme. Hence, it is a part of lysosomal acid lipase deficiency (LAL-D). Infants with this disease typically present with a few key features: failure to thrive, vomiting, abdominal distension, steatorrhea, and hepatosplenomegaly. It is an exceedingly…
The Challenges of Investigating Hypercholesterolemia
Hypercholesterolemia is a tricky disease to manage, not least because there is still debate about the threshold at which active intervention is needed. This is especially true when the lipid profile is only slightly elevated. We know that high cholesterol levels can eventually lead to health conditions such as cardiovascular disease, but how much attention…
New Questions in Lysosomal Acid Lipase Deficiency
Albert Einstein is credited with saying “We cannot solve problems with the same thinking we used to create them.” It is this spirit of taking risks, asking difficult questions, and breaking away from outdated paradigms that have been instrumental in moving medicine forward. In fact, the process of “question-asking” is enshrined in the scientific method:…
Rare Care Podcast
An Update on LAL-D With Dr. Paul Martin of Nationwide Children’s Hospital
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