- We explore the role of genomic sequencing in diagnosing Alagille syndrome and some of the dilemmas of genetic testing for this disease.
- The challenge for scientists is to develop immunotherapies targeting new molecular sites that can provide consistent clinical benefits in GIST patients.
- Artificial intelligence can play a role in identifying risk factors for cholangiocarcinoma, as well as in diagnosing and grading the disease.
- The Canadian Organization for Rare Disorders advocates for better diagnosis and drug access for Canada’s 3 million people with rare diseases.
- Various imaging modalities can be used to diagnose and characterize intrahepatic cholangiocarcinoma and assess prognosis and treatment response.
- Triheptanoin is clinically promising for LCFAOD, although challenges remain in quantifying its effects as a reliable biochemical marker.
- Through the combined efforts of researchers, key biomarkers of spinal muscular atrophy have been identified.
- Researchers conducted a review of what we know about low von Willebrand Factor and how best to treat this disease.
- Lipids, which play a key role in the pathogenesis of multiple sclerosis, can be used as targets or carriers of treatment.
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Rare Care Podcast
Browse Rare Disease Advisor’s engaging “Rare Care” podcast series, featuring interviews with leading researchers, stakeholders, and influencers within the rare disease community.
Latest HCP Insights
Spinal muscular atrophy type 1 (SMA1) is a rare neuromuscular disease that causes muscle weakness and atrophy. It is inherited in an autosomal recessive manner and is caused by a homozygous mutation or deletion in the survival motor neuron 1 (SMN1) gene. Type 1 is the most severe form of SMA and carries a mortality…
In severe cases of idiopathic pulmonary fibrosis (IPF), lung transplantation may be offered. However, lung transplantation is a major surgery in which many complications may develop. The greatest danger is, of course, death. Therefore, it is important that we give due weight to the risk factors associated with higher frequencies of post-transplant complications, as well…
It is difficult for modern physicians to imagine medicine without the convenience of medical imaging. When I worked as a junior doctor in Borneo, the older doctors were clearly much better at bedside diagnoses than us younger ones. What could be the reason for this? One possible explanation was the relative scarcity of imaging modalities…
Thyroid ultrasound is the gold-standard diagnostic tool to identify thyroid nodules at the highest risk for malignancy. However, it lacks the specificity to accurately detect medullary thyroid carcinoma (MTC), thereby delaying treatment initiation. According to the available data, thyroid ultrasound can identify a malignant lesion in the correct thyroid lobe with a 90% sensitivity, but…
Every year, the American Thoracic Society (ATS) organizes a conference in which ideas are exchanged and the latest research developments in the field of respiratory medicine are presented. Despite coronavirus disease 2019 (COVID-19) restrictions, the 2020 conference went ahead virtually and was, by all accounts, a major success. Medical conferences such as these, besides allowing…
The clinical management of metastatic gastrointestinal stromal tumor (GIST) has greatly improved since the early 2000s. The approval of imatinib mesylate (Gleevec®) in 2002 by the US Food and Drug Administration (FDA) was a major turning point in the survival of patients with GIST. Since then, as mentioned by Drs. Patel and Reichardt, "a treatment…