Partnerships

ClinGen relies on partnership to foster innovation, learn from each other and share findings and recommendations.

To view the ClinGen Partnership Agreement, click here.

If you have any questions or inquiries, please email us at partnership@clinicalgenome.org
Association for Clinical Genomic Science
Association for Clinical Genomic Science

A professional organization representing all scientists, technologists and bioinformaticians in all labs carrying out genetic and genomic work in the United Kingdom. ACGS and ClinGen are partnering to support Expert Panels in the cardiovascular clinical domain.

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American Society of Hematology
American Society of Hematology

ASH is a professional society serving both clinicians and scientists around the world who are working to conquer blood diseases. ASH and ClinGen are partnering to support Expert Panels in the hematology and hereditary cancer clinical domain.

Myeloid Malignancy Variant Curation Expert Panel
Platelet Disorders Variant Curation Expert Panel
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Concert Genetics
Concert Genetics

Concert Genetics provides the digital infrastructure for management of genetic testing and precision medicine. ClinGen and Concert are partnering to investigate the use of race, ethnicity, and ancestry terms in clinical testing requisition forms and insurance reimbursement policies.

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Enzyvant
Enzyvant

Enzyvant is an accelerator for transformative regenerative medicines with a focus on tissue-based therapies for rare conditions. We see a world where the promise of our breakthrough biotechnologies is fully realized. To achieve this vision, we are the stewards of science and catalysts for industry change needed to speed life-changing novel therapies to patients and families in desperate need.

Severe Combined Immunodeficiency Disease Variant Curation Expert Panel
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Gene Curation Coalition
Gene Curation Coalition

The Gene Curation Coalition brings together groups engaged in the evaluation of gene-disease validity with a willingness to share data, to develop consistent terminology for gene curation activities and to facilitate the consistent assessment of genes that have been reported in association with disease. ClinGen is a member of the GenCC and supports its website and database. ClinGen submits its curated data to the GenCC database. ClinGen will also work with GenCC members to resolve classification discrepancies that involve ClinGen GCEPs.

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Genetic Testing Reference Materials Coordination Program
Genetic Testing Reference Materials Coordination Program

The Centers for Disease Control and Prevention's Genetic Testing Reference Material Program (GeT-RM) has partnered with the Clinical Genome Resource (ClinGen) to develop a publicly available list of expert curated, clinically important variants. ClinGen/GeT-RM will continute this partnership by hosting the expert curated variant list on the ClinGen website. A nomination form is provided so that the community can nominate variants to be added to the resource.

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Hypothes.is
Hypothes.is

ClinGen biocurators are partnering with Hypothes.is to determine if Hypothes.is assisted annotation can expedite gene curation through use of a newly developed experimental plugin that has the capability of integrating and coordinating specified annotation fields with those required for database entry fields.

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Johnson&Johnson
Johnson&Johnson

About Our Commitment to Eye Health-- At Johnson & Johnson, we have a deep legacy in developing transformational new products that improve the health of patients’ eyes. As a global leader in eye health, we have a bold ambition: Vision Made Possible – and are paving the way for a new future of eye health to support the full spectrum of pediatric, developed, and mature eyes. Through cutting-edge innovation, scientific expertise, and advanced technologies, we are revolutionizing the way people see and experience the world. At every step of the eye health journey – from investigational gene therapies for retinal diseases to contact lenses and refractive and cataract surgical solutions – we stand as a trusted partner with the goal of making vision possible for customers and patients. About Johnson & Johnson-- At Johnson & Johnson, we believe health is everything. Our strength in healthcare innovation empowers us to build a world where complex diseases are prevented, treated, and cured, where treatments are smarter and less invasive, and solutions are personal. Through our expertise in Innovative Medicine and MedTech, we are uniquely positioned to innovate across the full spectrum of healthcare solutions today to deliver the breakthroughs of tomorrow, and profoundly impact health for humanity.   Learn more at www.jnj.com or at www.janssen.com/johnson-johnson-innovative-medicine. Follow us at @JanssenUS and @JNJInnovMed. Janssen Research & Development, LLC is a Johnson & Johnson company.

X-linked Inherited Retinal Disease Variant Curation Expert Panel
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Pharming
Pharming

Pharming is a global biopharmaceutical company dedicated to transforming the lives of patients with rare, debilitating, and life-threatening diseases.

Antibody Deficiencies Variant Curation Expert Panel
Antibody Deficiencies Gene Curation Expert Panel
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Foundation Fighting Blindness
Foundation Fighting Blindness

The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.

ABCA4 Variant Curation Expert Panel
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PTC Therapeutics
PTC Therapeutics

PTC is a global biopharmaceutical company focused on the discovery, development and commercialization of clinically differentiated medicines that provide benefits to patients with rare disorders. PTC and ClinGen are partnering to improve the diagnosis of Aromatic L-Amino acid Decarboxylase (AADC) deficiency by establishing a Variant Curation Expert Panel to facilitate the interpretation and classification of DDC variants.

Dopa Decarboxylase (Aromatic L-Amino Acid Decarboxylase) Variant Curation Expert Panel
Website
Jain Foundation
Jain Foundation

The Jain Foundation’s mission is to identify treatments for muscular dystrophies caused by mutations in the dysferlin (DYSF) gene. These dystrophies are collectively termed dysferlinopathy, but clinically are also referred to as LGMD2B, LGMDR2, or Miyoshi Myopathy 1 (MM1). The Foundation’s focused strategy includes funding and actively monitoring the progress of scientific research in key biological pathways that accelerate our progress towards the identification of therapeutic targets, providing financial and logistical support to promising drug candidates to accelerate them to clinical trials, funding clinical trials and studies, encouraging collaboration among scientists, and educating dysferlinopathy patients about their disease and helping them with their diagnosis. The Jain Foundation and ClinGen are partnering to support the expert curation of DYSF variants.

Limb Girdle Muscular Dystrophy Variant Curation Expert Panel
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