#rare-diseases

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Why Early Diagnosis of PAH is So Important

Increasing awareness of pulmonary arterial hypertension (PAH) is crucial for early diagnosis and better patient management.
#research-funding

Toronto couple fundraising for Boston lab they hope can help their daughter | CBC News

A Toronto family is fundraising for research on Selenon Related Myopathy to develop treatment for their daughter's ultra-rare disease.

When Choosing What Diseases to Develop Drugs For, It All Comes Down to Funding

Funding drives research decisions
The Orphan Drug Act incentivized drug development for rare diseases

Toronto couple fundraising for Boston lab they hope can help their daughter | CBC News

A Toronto family is fundraising for research on Selenon Related Myopathy to develop treatment for their daughter's ultra-rare disease.

When Choosing What Diseases to Develop Drugs For, It All Comes Down to Funding

Funding drives research decisions
The Orphan Drug Act incentivized drug development for rare diseases
moreresearch-funding
#artificial-intelligence

Can AI shake-up translational research?

AI-driven tools like the Biomedical Data Translator can expedite treatment for rare diseases, offering hope in translational medicine.

Using AI to repurpose existing drugs for treatment of rare diseases - Harvard Gazette

An AI tool called TxGNN can identify drug candidates for over 17,000 rare diseases, potentially addressing many previously untreated conditions.

Can AI shake-up translational research?

AI-driven tools like the Biomedical Data Translator can expedite treatment for rare diseases, offering hope in translational medicine.

Using AI to repurpose existing drugs for treatment of rare diseases - Harvard Gazette

An AI tool called TxGNN can identify drug candidates for over 17,000 rare diseases, potentially addressing many previously untreated conditions.
moreartificial-intelligence

Exploring the Elusive Genetic Causes of Rare Autoimmune Disease - News Center

The study reveals new genetic insights into APECED, identifying non-coding mutations that impair the AIRE gene's function in patients lacking typical variants.

Influencer opens up about living with 'extremely rare eye condition'

Gerry, a beauty influencer, has megalocornea, a rare condition that causes large eyes, emphasizing their natural appearance over cosmetic enhancements.
#progeria

A disease that makes children age rapidly gets closer to a cure

Gene editing may offer hope for treating ultrarare conditions like progeria, potentially paving the way for treatments for other genetic diseases.

A Disease That Makes Children Age Rapidly Gets Closer to a Cure

A cure for progeria through gene editing may be imminent.

A disease that makes children age rapidly gets closer to a cure

Gene editing may offer hope for treating ultrarare conditions like progeria, potentially paving the way for treatments for other genetic diseases.

A Disease That Makes Children Age Rapidly Gets Closer to a Cure

A cure for progeria through gene editing may be imminent.
moreprogeria

Imagine getting life-saving drugs to sick people without relying on big pharma? We may have found a way | Dr Catriona Crombie

Healthcare providers are finding innovative ways to make life-saving treatments more accessible for patients with rare diseases.

AI Is Transforming Drug Matching for Cancer, Rare Diseases | Entrepreneur

AI tools are revolutionizing drug discovery for rare diseases by repurposing existing medications, leading to cost-effective and efficient screening processes.
#meningococcal-infections

CDC alerts doctors to watch for rare, serious bacterial infection appearing with unusual symptoms

Cases of rare, serious meningococcal infections are rising in the US, affecting middle-aged adults.
A certain strain of Neisseria meningitidis bacteria is causing these unusual infections with higher fatality rates than typical cases.

CDC alerts doctors to watch for rare, serious bacterial infection appearing with unusual symptoms

Rare meningococcal infections are on the rise in the US with higher fatality rates, affecting middle-aged adults.
Infections caused by strain ST-1466 in the Y subgroup are prevalent, spreading through respiratory secretions or close contact.

CDC alerts doctors to watch for rare, serious bacterial infection appearing with unusual symptoms

Cases of rare, serious meningococcal infections are rising in the US, affecting middle-aged adults.
A certain strain of Neisseria meningitidis bacteria is causing these unusual infections with higher fatality rates than typical cases.

CDC alerts doctors to watch for rare, serious bacterial infection appearing with unusual symptoms

Rare meningococcal infections are on the rise in the US with higher fatality rates, affecting middle-aged adults.
Infections caused by strain ST-1466 in the Y subgroup are prevalent, spreading through respiratory secretions or close contact.
moremeningococcal-infections

The enormous but unknown curative power of old drugs

Repurposing existing drugs can lead to breakthrough treatments for rare diseases.
Advocacy, research, and collaboration are essential for driving drug development for rare diseases.

New Drug Shows Promise for Treating Rare Brain Tumors - News Center

An experimental drug, dordaviprone, shows promise in treating H3 K27M-mutant diffuse midline gliomas.
The study revealed a 30% positive response rate to the drug in patients with this rare brain tumor subtype.

Precision Medicine Has a Data Equity Problem - Non Profit News | Nonprofit Quarterly

Precision medicine has the potential to rectify healthcare inefficiencies and disparities, but current disparities in genomic data may perpetuate inequality.
Precision medicine has led to improved treatments for rare diseases, advancements in cancer care, and revolutionized prenatal genetic testing.

Hochul to Propose $25 Million in State Funding for A.L.S. Research

Governor Kathy Hochul plans to propose a $25 million appropriation for ALS research, one of the largest investments by a state in ALS research.
The program created through the appropriation will support various endeavors, including drug development and potentially provide a model for addressing other rare diseases.

Science and money are behind which diseases get prioritized for drug development

Research funding plays a significant role in determining which diseases receive drug development focus.
The Orphan Drug Act has increased funding and development of drugs for rare diseases.

Is Cord-Blood Banking Worth It?

Umbilical cord blood banking can be costly and may not be necessary for all families, especially those without a specific disease history.
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