Rare Disease News & FDA Approvals

ResearchRSS2 days ago

Climbing ALS death rates seen in Finland, not due to aging alone: Study

A new study from Finland found that deaths from ALS (a disease that affects nerve cells controlling muscles) have nearly doubled over the last 30 years. The increase is especially noticeable in older adults. Researchers aren't sure why this is happening, and similar increases haven't been reported in other countries.

WHY IT MATTERSIf ALS death rates are rising in Finland, understanding why could help identify preventable risk factors or early warning signs that might apply to ALS patients elsewhere.

ℹ Good to knowAmyotrophic Lateral Sclerosis (ALS)Read →

ResearchBIORXIV3 days ago

Preprint: Granulin loss and TMEM106B risk converge on lysosomal C-terminal fragment pathology in frontotemporal dementia

Scientists are studying how two genes work together to cause frontotemporal dementia, a type of brain disease that affects thinking and behavior. One gene called GRN normally makes a protein that protects brain cells, but when it's broken, people can develop dementia. Another gene called TMEM106B can either increase or decrease the risk of getting sick. This research helps explain why some people with the broken GRN gene stay healthy their whole lives while others get dementia.

WHY IT MATTERSIf you or a family member carries a GRN mutation, understanding how TMEM106B variants modify your risk could eventually help doctors predict who will develop frontotemporal dementia and when, potentially enabling earlier monitoring or future preventive treatments.

ℹ Good to knowFrontotemporal dementia Frontotemporal dementia with granulin mutations Read →

Rare disease news

Climbing ALS death rates seen in Finland, not due to aging alone: Study

Preprint: Granulin loss and TMEM106B risk converge on lysosomal C-terminal fragment pathology in frontotemporal dementia

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