#rare-diseases tag

fromwww.independent.co.uk

OMG science

Rare diseases often go undiagnosed or untreated in parts of Africa. A project seeks to change that

The article illustrates the impact of rare diseases on families, highlighting the emotional toll and challenges faced in accessing timely medical care.

OMG science

fromNature

2 weeks ago

Whole-genome sequencing susses out rare diseases

Whole-genome sequencing offers a more comprehensive solution for diagnosing rare genetic diseases than traditional exome sequencing.

Drugs Have Uses We Can't Imagine. He's Using A.I. to Find Them.

AI-driven treatment options can significantly impact the care of patients with rare diseases.

Persistence in seeking unconventional solutions can lead to unexpected and life-saving outcomes.

fromwww.npr.org

4 months ago

OMG science

For kids with rare genetic disorders, customized CRISPR treatments offer hope

Lucy Landman suffers from a rare genetic disorder with no current treatment; CRISPR shows promise, yet funding remains a critical hurdle for research.

fromPortlandTribune.com

5 months ago

Medicine

Why Early Diagnosis of PAH is So Important

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

OMG science

fromwww.nytimes.com

1 month ago

Drugs Have Uses We Can't Imagine. He's Using A.I. to Find Them.

AI-driven treatment options can significantly impact the care of patients with rare diseases.

Persistence in seeking unconventional solutions can lead to unexpected and life-saving outcomes.

fromwww.npr.org

4 months ago

OMG science

For kids with rare genetic disorders, customized CRISPR treatments offer hope

Lucy Landman suffers from a rare genetic disorder with no current treatment; CRISPR shows promise, yet funding remains a critical hurdle for research.

fromPortlandTribune.com

5 months ago

Medicine

Why Early Diagnosis of PAH is So Important

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

more#patient-advocacy

Education

fromIrish Independent

2 months ago

Dublin girl with rare skin disease excited to go to secondary school

Casey Connors, 12, is preparing for secondary school while managing her condition, epidermolysis bullosa, with strong family and community support.

Parenting

fromwww.standard.co.uk

2 months ago

Gene therapy experiment gives children 'life-changing' sight boost at London hospital

Pioneering gene therapy restores sight in young children with a rare genetic condition.

OMG science

fromNews Center

6 months ago

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.

#drug-discovery

Artificial intelligence

fromHarvard Gazette

7 months ago

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.

fromEntrepreneur

1 year ago

Artificial intelligence

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.

Artificial intelligence

fromHarvard Gazette

7 months ago

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.

fromEntrepreneur

1 year ago

Artificial intelligence

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.

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

A cure for progeria through gene editing may be imminent.

fromThe Atlantic

2 years ago

OMG science

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.

#rare-diseases#rare-diseases

Rare diseases often go undiagnosed or untreated in parts of Africa. A project seeks to change that

Whole-genome sequencing susses out rare diseases

Drugs Have Uses We Can't Imagine. He's Using A.I. to Find Them.

For kids with rare genetic disorders, customized CRISPR treatments offer hope

Why Early Diagnosis of PAH is So Important

Drugs Have Uses We Can't Imagine. He's Using A.I. to Find Them.

For kids with rare genetic disorders, customized CRISPR treatments offer hope

Why Early Diagnosis of PAH is So Important

Dublin girl with rare skin disease excited to go to secondary school

Gene therapy experiment gives children 'life-changing' sight boost at London hospital

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

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

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

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

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

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

Is Cord-Blood Banking Worth It?

#rare-diseases
#rare-diseases