How a Genetic Counselor Can Help You

A Global Genes resource: Since most rare diseases are caused by changes in your genes, genetic testing is often part of the journey. But understanding your options may be challenging. Partnering with a genetic counselor can help you make the best choice for you and your family. What is a Genetic Counselor? A genetic counselor is a healthcare professional with special training in counseling and medical genetics. They can help you understand the diagnostic process and can advocate for you to obtain emotional and financial support and get the best possible care.

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Phenome‑wide profiling identifies genotype‑phenotype associations in Phelan‑McDermid syndrome

Phenome‑wide profiling identifies genotype‑phenotype associations in Phelan‑McDermid syndrome

Phelan-McDermid syndrome is characterized by global developmental delay, intellectual disability, speech impairment, autism spectrum disorder, and hypotonia; other variable features include epilepsy, brain and renal malformations, and mild dysmorphic features. Here, we conducted genotype-phenotype correlation analyses using the PMS International Registry, a family-driven registry that compiles clinical data in the form of family-reported outcomes and family-sourced genetic test results.

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2024 PMSF Virtual Family Conference Agenda

2024 PMSF Virtual Family Conference Agenda

Join us VIRTUALLY at the 2024 Phelan McDermid Syndrome Foundation Family Conference. Livestream is the next best thing to being there! The agenda is full of offerings in the three tracks titled CARE, CONNECT and CURE, ranging from research and science, clinical care and caregiver support topics that all help to improve the lives of those affected by Phelan-McDermid syndrome. If you have questions, contact us at conference@pmsf.org.

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2024 PMSF Family Conference Agenda

2024 PMSF Family Conference Agenda

Join Us at the 2024 Phelan McDermid Syndrome Foundation Family Conference at the Radisson Blu at the Mall of America in Bloomington, MN, USA. You will find something for everyone in the Phelan-McDermid community! The conference will be attended by families, clinicians, researchers, therapists, and industry partners. The agenda is full of offerings in the three tracks titled CARE, CONNECT and CURE, ranging from research and science, clinical care and caregiver support topics that all help to improve the lives of those affected by Phelan-McDermid syndrome. There will be evening events, family outings, a sibling field trip, dance party, dinner, reception to help families and others connect. If you have questions, contact us at conference@pmsf.org

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