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Mashup Score: 0Agenda - Living Rare Living Stronger - 2 hour(s) ago
Check out the Living Rare, Living Stronger NORD Patient and Family Forum featuring the Rare Impact Awards agenda.
Source: livingrare.orgCategories: General Medicine News, Rare DiseaseTweet
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Mashup Score: 1
Medicare’s home health benefit can cover up to 28-35 hours per week of aides, but Medicare’s policies and practices restrict the availability and coverage of such services.
Source: medicareadvocacy.orgCategories: General Medicine News, Rare DiseaseTweet
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Mashup Score: 2LINC complex alterations are a key feature of sporadic and familial ALS/FTD - Acta Neuropathologica Communications - 8 hour(s) ago
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that primarily affects motor neurons, leading to progressive muscle weakness and loss of voluntary muscle control. While the exact cause of ALS is not fully understood, emerging research suggests that dysfunction of the nuclear envelope (NE) may contribute to disease pathogenesis and progression. The NE plays a role in ALS through several mechanisms, including nuclear pore defects, nucleocytoplasmic transport impairment, accumulation of mislocalized proteins, and nuclear morphology abnormalities. The LINC complex is the second biggest multi-protein complex in the NE and consists of the SUN1/2 proteins spanning the inner nuclear membrane and Nesprin proteins embedded in the outer membrane. The LINC complex, by interacting with both the nuclear lamina and the cytoskeleton, transmits mechanical forces to the nucleus regulating its morphology and functional homeostasis. In this study we show extensive alterations to the LI
Source: actaneurocomms.biomedcentral.comCategories: General Medicine News, Rare DiseaseTweet
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Mashup Score: 2Genetic Counselor to Camp Counselor: Kate’s Story in Honor of National Volunteer Month - National Organization for Rare Disorders - 1 day(s) ago
By Kate R., MS, CGC
Source: rarediseases.orgCategories: General Medicine News, Rare DiseaseTweet
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Mashup Score: 4Educate 2024 - I AM ALS - 1 day(s) ago
ALS does not discriminate. People of every age, gender, race, ethnicity, religion, sexual orientation, and nationality are diagnosed with ALS. However, not everyone has the same experience. For example, studies have found that African-Americans and Black people experience an eight-month delay from symptoms-to-diagnosis a nd have further progressed ALS than their White counterparts at time of diagnosis. ALSFRS-R scores and forced vital capacity were 4.73 points lower and 18.29% lower. While 8 months might
Source: www.iamals.orgCategories: General Medicine News, Rare DiseaseTweet
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Mashup Score: 2
The NFL says it will allow players to wear protective soft-shell helmet covers known as…
Source: www.houstonchronicle.comCategories: General Medicine News, Rare DiseaseTweet
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Mashup Score: 0
Ten years after dipping its toe into the gene therapy pool in a licensing deal with Spark Therapeutics, Pfizer has gained an FDA approval for the acquired treatment. | Ten years after dipping its toe into the gene therapy pool in a licensing deal with Spark Therapeutics, Pfizer has gained an FDA approval for the acquired treatment. The U.S. regulator has endorsed Beqvez for adults with the bleeding disorder hemophilia B. It becomes the first FDA-approved gene therapy for Pfizer, which will charge $3.5 million for the single-dose drug.
Source: www.fiercepharma.comCategories: General Medicine News, Rare DiseaseTweet
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Mashup Score: 0
The clinic at East Tennessee State University Health is the only one in the state to offer free multidisciplinary care to ALS patients.
Source: alsnewstoday.comCategories: General Medicine News, Rare DiseaseTweet
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Mashup Score: 4Scientists report that new gene therapy slows down amyotrophic lateral sclerosis disease progression - 2 day(s) ago
There has been a breakthrough in the research on the disease amyotrophic lateral sclerosis (ALS). Scientists at Umeå University report that the disease progression in a patient with a particularly aggressive …
Source: medicalxpress.comCategories: General Medicine News, Rare DiseaseTweet
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Mashup Score: 0
In-line sales for Alzheimer’s drug Leqembi and a beat for rare-disease drug Skyclarys has Wall Street giving Biogen another chance.
Source: www.wsj.comCategories: General Medicine News, Rare DiseaseTweet
Curious what's in store for the 2024 NORD #LivingRareForum? Join us in Los Angeles, California or virtually this June to attend these sessions on important #RareDisease topics and meet zebras from around the country! Read the full agenda & register here: https://t.co/5Oo1rU1cks https://t.co/g4hVdtc4y7