Collaboration

The Baylor College of Medicine's GREGoR site is working on finding genetic answers for rare diseases. We have a team of different experts, including doctors, genetics specialists, and data analysts, who all work together to find genetic causes for these rare diseases. We study families with a range of disease types, including neurologic, immunologic, and congenital disorders. If you or your family have a rare condition and haven't been able to get a diagnosis through regular medical tests, you might be able to join our study. Inclusion in the study requires a willingness to provide various sample types (often blood) and medical records, and agreement that we may use your coded (stripped of your name) clinical and genomic data for publication and sharing in NIH databases. Most participants do not need to travel to Houston for enrollment or sample collection. Our research methods include looking at your entire genetic code (genome sequencing), using a method that can read large pieces of the code at once (long-read genome sequencing), and looking at the 'working copy' of your genes (RNA sequencing).

You can join our study directly, or your local doctor can help you enroll. Please reach out to Jennifer Posey (Jennifer.Posey@bcm.edu) for more information.

The Broad Institute Center for Mendelian Genomics (CMG) is led by genomics experts and clinicians who believe that the latest advances in genome sequencing technology are changing medicine and should be available to rare and undiagnosed families. Our goals are to discover new causes of rare disease and improve the diagnosis rate for individuals with these diseases. We study a wide range of single gene conditions including neuromuscular diseases and neurodevelopmental disorders in addition to rare orphan diseases. We perform genomic sequencing on samples from families we directly recruit within the United States through our Rare Genomes Project (RGP) as well as those recruited by our research collaborators from around the world. Individuals and families with rare, undiagnosed conditions who are interested in participation can learn more about the Rare Genomes Project through this short video as well as read more and apply to the study on our website.

If you're a clinician who has a patient to refer or if you or a family member with a suspected single gene disorder who remains undiagnosed, please view the RGP website or contact us toll-free at 855-534-4300 or by email at raregenomes@broadinstitute.org.

To accelerate the pace of Mendelian disease gene discovery and clinical implementation, the Pediatric Mendelian Genomics Research Center (PMGRC) leverages the broad pediatric clinical and research expertise of Children’s National Hospital and Research Institute, and of the University of California, Irvine as well as Invitae's expertise in providing comprehensive and affordable genetic testing. Our Center is interested in any suspected genetic phenotype, with high interest in neurologic, neurodevelopmental and neurodegenerative diseases, leukodystrophy, congenital heart diseases, congenital renal diseases, congenital malformations, specific metabolic derangements, holoprosencephaly, and differences in sexual development. Inclusion criteria for participation in our study include suspected genetic phenotype, ideally with previous negative testing. Priority will be given to recurrent diseases within a family with multiple family members affected, consanguineous families or well-established phenotypes with other genetic causes excluded. Phenotypes that are well explained by already identified variants will be excluded. We provide direct patient enrollment with close contact with clinical referring teams. Moreover, our approach includes transcriptomics alongside whole genome sequencing for most cases where whole blood is available, thus increasing the potential for functional characterization of variants. We are able to mail a buccal swab or provide a blood tube via FedEx.

If you would like to reach out to our Center directly please use our referral form or email us at PMGRC@childrensnational.org.

At the GREGoR Stanford Site (GSS) our goal is to improve the diagnosis for people with undiagnosed suspected genetic conditions by applying and evaluating new technologies and scientific approaches. Individuals are eligible to participate if they have a suspected genetic condition and remain undiagnosed after having exome or genome sequencing. Research participants are referred to the GSS by their genetics healthcare provider. Research participation involves completing surveys, giving permission to review medical records and providing a blood sample(s), which can be provided at Stanford or remotely at a local lab. The GSS is open to enrolling participants living within the United States. Individuals who are interested in participation are encouraged to contact their healthcare provider to discuss the study and request a referral.

Healthcare providers and individuals can learn more about GSS and how to submit a referral at our website or by contacting our Center directly at gregorsite@stanford.edu.

The University of Washington Center for Rare Disease Research (UW-CRDR) offers free exome and whole genome sequencing (using either short- or long-reads), targeted long-read sequencing, RNA-Seq, methylation profiling, comprehensive analysis, and functional validation of candidate variants to collaborating investigators, clinicians, and families worldwide. Eligible participants and families with a Mendelian condition should have either a novel condition or have had prior genetic testing that failed to identify the underlying genetic cause. Interested families may also explore MyGene2, a portal through which families with rare genetic conditions can connect with other families, clinicians, and researchers to share information and offer support.

Please contact Colby Marvin (ctmarvin@uw.edu) for more information or if you are interested in collaborating with the UW-CRDR.