Investigator
Alan Beggs, PhD
Divisions
Notable publications by investigator
- International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.
- Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
- Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.
- Genotype-phenotype correlation in recessive DNAJB4 myopathy.
- Genome Sequencing for Diagnosing Rare Diseases.
- Zebrafish and cellular models of SELENON-Related Myopathy exhibit novel embryonic and metabolic phenotypes.
- Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations.
Disease support organizations
A Foundation Building Strength
A Foundation Building Strength is the only 501(c)3 organization solely dedicated to finding treatments for Nemaline Myopathy, while providing support and resources to the NM community.
Cure CMD
Cure CMD is a nonprofit organization focused on funding research and supporting those affected by congenital muscular dystrophy.
Joshua Frase Foundation
Joshua Frase Foundation is a 501c3 nonprofit organization that provides information for families and physicians about Myotubular and Centronuclear Myopathy, and funds cutting-edge research in the area of regenerative medicine, gene therapy, and genetics.
MTM-CNM Family Connection
MTM-CNM Family Connection is a nonprofit charitable organization with a mission to connect families affected by Myotubular Myopathy (MTM) and/or Centronuclear Myopathy (CNM) to resources, research, and relationships within the MTM-CNM community.
Muscular Dystrophy Association
Muscular Dystrophy Association (MDA) is a voluntary health organization in the United States for people living with muscular dystrophy, ALS, and related neuromuscular diseases. For over 70 years, MDA has led the way in accelerating research, advancing care, and advocating for the support of families.
Team Titin
Team Titin is a consortium of scientists and affected community members whose mission is to connect, educate, and inspire researchers, clinicians, and families with a focus on titin-related muscle and heart disorders.
The RYR-1 Foundation
The RYR-1 Foundation supports research leading to an effective treatment or a cure for RYR-1-Related Diseases. This is achieved through the support of RYR-1 research, the education of medical professionals about RYR-1-Related Diseases, and by providing patient and family support and advocacy.
Caterina Grace Foundation
Caterina Grace Foundation is a nonprofit organization that aims to raise awareness and funding to support targeted research to develop treatment therapies for Nemaline Myopathy.
Giving Strength Inc
Giving Strength Inc. is a nonprofit organization dedicated to raising money to fund research grants and awareness for congenital muscular dystrophy, specifically for the subtype and rare genetic disorder SELENON Related Myopathy.
Malignant Hyperthermia Association of the United States
Malignant Hyperthermia Association of the United States (MHAUS) is a nonprofit organization with a mission to promote optimum care and scientific understanding of MH and related disorders. The organization advocates for continuous temperature monitoring for all surgical patients undergoing general anesthesia, adequate dantrolene supplies near the OR, and thorough family histories.
Myotubular Trust
Myotubular Trust is a charitable organization that supports families affected by the different stages of living with myotubular and centronuclear myopathy and promotes the study and research into the treatment and cure of muscle weakness caused by myotubular myopathy.
Parent Project Muscular Dystrophy
Parent Project Muscular Dystrophy (PPMD) is the largest nonprofit organization in the United States focused entirely on Duchenne muscular dystrophy. It takes a comprehensive approach in the fight against Duchenne—funding research, raising awareness, promoting advocacy, connecting the community, and broadening treatment options.
Metabolic Support UK
Metabolic Support UK is a nonprofit organization dedicated to supporting people living with Inherited Metabolic Disorders (IMDs) by providing individual support, building communities, advocating for better treatments, and funding research.
GAIN Charity (Guillain-Barré and Associated Inflammatory Neuropathies)
GAIN Charity is a nonprofit organization focused on supporting people affected by Guillain-Barré Syndrome (GBS), Chronic Inflammatory Demyelinating Polyneuropathy (CIDP), and other related conditions through advice, information, personal grants, and research funding.
GBS/CIDP Foundation of Canada
The GBS/CIDP Foundation of Canada is a nonprofit organization committed to improving the quality of life for individuals and families affected by GBS, CIDP, and variants by providing early diagnosis, expert treatment, support, and advocating for better treatment access.
Cure SMA
Cure SMA is a nonprofit organization dedicated to funding research and providing support for spinal muscular atrophy (SMA) to improve the lives of those affected by the disease.
SMA Australia
SMA Australia is a nonprofit organization focused on supporting individuals and families affected by spinal muscular atrophy (SMA) through advocacy, education, and research funding.
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