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Genetics

Funding Restrictions

Humane Resources: Funding Restrictions in Rare Rheumatic Diseases

June 20, 2017 John 0

As any rheumatologist knows, most non-medical individuals don’t really know what ‘rheumatology’ is.  Not so much of a bad reputation, as no reputation.  Relatives and […]

app-based tool for clinicians

App-based tool for clinicians using facial recognition, AI and genetic big data to improve rare disease diagnosis and treatment

May 14, 2017 John 0

Boston startup FDNA, which makes a suite of apps called Face2Gene that use facial analysis, artificial intelligence and genomic insights in hopes of improving diagnoses […]

Gene Therapy

A New Gene Therapy Cure Just Treated Its First-Ever Patient

May 9, 2017 John 0

Rarefied Cures This March, a child with severe combined immune deficiency (SCID) became the second commercial gene therapy patient ever. The patient started receiving a drug […]

Dr Scott Canna

In a Heartbeat: Understanding autoinflammation (Pittsburgh)

May 6, 2017 John 0

Children’s Hospital of Pittsburgh of UPMC has recruited Dr. Scott Canna to research autoinflammatory disorders, which can cause the body’s immune system to attack its […]

immunity

Researchers Unlock An Immunity ‘Black Box’

May 6, 2017 John 0

A research team led by St. Jude Children’s Research Hospital immunologists has revealed a previously unknown immune machinery that goes awry to trigger the inflammatory […]

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What advice would you give to others?

  • Humane Resources: Funding Restrictions in Rare Rheumatic Diseases
  • Rare Disease Clinical Development: The Crucial Need for Patient and Parent Involvement
  • Living with a rare disease: a husband and father’s perspective
  • Global Genes® to Convene RARE Partnering and Investor Forum to Accelerate Drug Development for Rare Diseases
  • Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.
  • We must act as England falls behind on access to rare disease medicines
  • App-based tool for clinicians using facial recognition, AI and genetic big data to improve rare disease diagnosis and treatment
  • Three new medicines cleared for use by NHS Scotland
  • NORD Launches Free CME Program to Educate Medical Professionals about Rare Diseases
  • A Nuanced Message: Marketing to the Rare Diseases Community
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