Research

Advancing Therapies for Genetic Disorders

Wider Reach, Stronger Studies

Our extensive network of engaged patients assures you of access to hard-to-reach populations affected by genetic disorders. We strategically recruit the most eligible participants and increase study retention by taking biospecimen and data collection directly to the patient’s home. As a fully integrated services solution, you can expect streamlined logistics that allow you to focus on advancing the next therapy instead.

  • Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
  • Cystic Fibrosis (CF)
  • Down Syndrome (Trisomy 21)
  • Duchenne Muscular Dystrophy (DMD)
  • Glucose-6-phosphate-dehydrogenase (G6PD)
  • Hereditary Hemorrhagic Telangiectasia (HHT)
  • Hunter’s Syndrome (MPS II)
  •  Huntington's Disease (HD)
  • Myotonic Dystrophy
  • Spinal Muscular Atrophy

Sanguine's Expertise in Genetic & Rare Diseases

>800

Patient Members

>25

Studies Completed

GENETIC & RARE - Map

Contact us to discuss your research needs

Sanguine Services

  • Whole Blood
  • Serum
  • Plasma
  • Urine (Ex: Lupus nephritis)
  • Skin Taping (ex: Atopic dermatitis)
  • DNA/RNA
  • PBMCs (+ Derivatives)
  • Hair
  • Stool
  • Semen
  • Nails
  • Buffy Coat
  • PBMC isolation
  • "Treatment naive (eg: no disease-modifying therapies)"
  • Identify specific mutations and genotypes
  • Enzyme deficiency
  • Familial history
  • Disease Confirmation
  • Covid-19 (PCR)
  • Sickle Cell
  • HIV/HPV/Hepatitis/Herpes Etc.
  • BioMarker Quantification
  • CBC, Platelett, & Diff
  • CRP
  • Cal-Protecin
  • ANA
  • Cytokine Panel
  • BUN
  • Urinalysis
  • Thyroid Stimulating Hormone
  • Lipid Panel
  • LDH
  • Genetic Analysis
  • HLA Typing
  • dsDNA
  • RNA Vial Load Qaunitification
  • HBV Genotyping
  • Single Timepoint - Huntingtons
  • Ability to consent and enroll pediatric patients
  • Connect with hard to reach patients / rare disease patients
  • Access to patients via patient advocacy groups and non-profit organizations

Growing insight into the molecular origins of genetic disorders has allowed biomedical science to stand on the cusp of many new treatments finally reaching patients in need. To augment therapeutic development, we ensure you’re working with a sufficient sample size and have a comprehensive view of people living with a genetic disorder. As a partner that is also attuned to the unique study design and privacy requirements necessitated in this field, we enable new opportunities for you to improve patients’ wellbeing faster.

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CASE STUDY

Care About Rare: A Patient-Led Approach to Rare Disease Research

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EBOOK

Hybrid by Design: Patient Centricity in Clinical Trials
Duchenne Muscular Dystrophy

Hear From Our Community

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“All I can hope is that the work we’re doing, the donations that my children are making, that somehow, future generations will never have to know what Huntington’s disease is.”

- Frances Saldana

President of UCI Huntington’s Disease, Care, Patient Advocate

Featured Publications

Molecular Therapy - Nucleic Acids

Preclinical development of a subcutaneous ALAS1 RNAi therapeutic for treatment of hepatic porphyrias using circulating RNA quantification

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