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FTD Genetics

Our understanding of the genetics of frontotemporal degeneration (FTD) and related conditions such as amyotrophic lateral sclerosis (ALS) is advancing rapidly, and the Penn FTD Center is at the forefront of clinical genetics research. The Penn FTD Center conducts several FTD genetics research studies, is involved in gene therapy trials for FTD, is a site for consortia studies such as ALLFTD, and offers clinical genetic counseling services.

 

There are many genes that can cause FTD, but the three most common genetic causes are pathogenic variants in the C9orf72, GRN, and MAPT genes. Although it is possible to have a genetic cause of FTD when nobody else in the family has had FTD or related conditions, it is more likely to find a genetic cause when there is family history of neurologic disease.

 

There are many potential benefits of genetic testing both for the person diagnosed as well as for the family. However, there are also limitations and important considerations. Meeting with a genetic counselor is recommended for any individual with questions about the genetics of FTD or the implications for the family. Having a conversation with a genetic counselor does not mean that you have to move forward with genetic testing.

Two Ways to Meet a Genetic Counselor

Schedule a Clinical Appointment

1. To schedule a visit with a genetic counselor at Penn Neurology, call 215-662-3606  and request a neurogenetics appointment

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2. Ask your neurologist to refer you to a genetic counselor

 

3. To find a genetic counselor near you, use the National Society of Genetic Counselor Tool below

Participate in a Research Study that includes Genetic Counseling

1. The ALLFTD study includes the option for genetic counseling and testing

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2. The Penn FTD Center is a site for ALLFTD, contact our ALLFTD coordinator Julia Kwiecinski at 

Julia.Kwiecinski@Pennmedicine.upenn.edu

Resources

01

Sponsored Genetic Testing Programs for FTD

02

FTD Disorder Registry & Genetics of FTD

03

RARE Revolution Magazine Interview with Laynie Dratch

04

Penn FTD Center Familial FTD/ALS Conference

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AFTD Genetic Support Group Information

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AFTD - FTD Genetics & Overview

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AFTD - Resources & References on FTD Genetics

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Navigating Social and Legal Challenges in Familial FTD

09

Understanding the Genetics of FTD Booklet

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End the Legacy Advocacy Group

For information about clinical trials (interventional research studies) for genetic forms of FTD at the Penn FTD Center, please reach out to Dahlia Kamel, Clinical Trials Manager 

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