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Patients & Families

Patients & Families

We are advancing our proprietary genetic medicines platform as we seek to transform the lives of patients with rare diseases by targeting or addressing the underlying cause of the disease. The person, family members and caregivers affected by rare disease are the biggest drivers in every decision our Company makes. From hiring new employees to determining new research initiatives to beginning development programs, we consider the patient community first and foremost.

We continuously seek opportunities to learn from the patients we serve and to provide opportunities to share information about our programs. While we are still in the early stages of clinical development, we are moving forward as quickly as possible, knowing that there are people waiting on new advances. You can learn more about our therapeutic areas or email your questions to patientadvocacy@homologymedicines.com.

Meet Our Patient Advocacy Team

 

Theresa McNeely
Theresa McNeely
Chief Communications Officer and Patient Advocate
Cara Mayfield
Vice President, Patient Advocacy and Corporate Communications
 

Patient & Family Resources


Phenylketonuria (PKU)

Patient Advocacy Resources for PKU

PKU is a rare inborn error of metabolism caused by a mutation in the PAH gene. If left untreated, PKU can result in progressive and severe neurological impairment. Currently, there are no treatment options for PKU that target the underlying genetic cause of the disease. According to the National PKU Alliance, PKU affects nearly 16,500 people in the U.S. with approximately 350 newborns diagnosed each year. The worldwide prevalence of PKU is estimated to be 50,000 people.

Download our PKU Gene Therapy Fact Sheet (English or Spanish)

Download our PKU Gene Editing Fact Sheet


Metachromatic Leukodystrophy (MLD)

Patient Advocacy Resources for MLD

MLD is a rare lysosomal storage disorder caused by a mutation in the ARSA gene leading to progressive and serious neurological deterioration. The late infantile form of the disorder is estimated to affect 1 in 40,000 people, and it is fatal within 5-10 years after onset.


MPS II (Hunter syndrome)

Patient Advocacy Resources for Hunter syndrome

MPS II, or Hunter syndrome, is a lysosomal storage disorder leading to toxic lysosomal accumulation of glycosaminoglycans (GAGs). Hunter syndrome occurs in 1 in 100,000 to 1 in 170,000 males. Severe Hunter syndrome causes progressive debilitation and intellectual decline. The severe form leads to life expectancy of 10 to 20 years. There are no treatments currently available to address both cognitive and peripheral organ manifestations.

Download our Hunter syndrome Fact Sheet

Paroxysmal Nocturnal Hemoglobinuria (PNH)

PNH is a rare, acquired life-threatening blood disease caused by mutations in the PIGA gene that results in intravascular hemolysis, or red blood cell destruction, mediated by uncontrolled activation of the complement system. PNH results in thromboses, recurrent pain, severe anemia, kidney disease and impaired quality of life, among other outcomes.

Community Involvement

The Homology team participates in events to raise awareness of rare disease and support patient advocacy organizations.

 

In recognition of Rare Disease Day, we partnered with TinySuperheroes to sponsor and deliver personalized superhero capes to children overcoming an illness or disability. We wrote motivational letters and created artwork for each child to honor their bravery

 

Employees participated in NPKUA’s #wearblueforPKU2020 initiative to flood social media with pictures to support for the PKU community

 

Some of the many Homology participants who ran NECPAD’s 2020 Virtual Victory 5K during PKU Awareness Month to raise funds for research and raise awareness of PKU

 

Homology employees tackled the PKU diet in solidarity with the PKU Community to honor Rare Disease Day

 

Homology team with guest speaker Maria Kefalas, who shared her experiences as a mother of a child with MLD and the work her organization, the Calliope Joy Foundation, does to support MLD families

 

Homology employees recognizing Rare Disease Day, wearing color-coded shirts to demonstrate who has been personally impacted by rare disease themselves or by their immediate family / friends

 

Awesome participation from the Homology team at NECPAD’s 2019 Fast Feet for Phreedom 5K

 

Homology runners after completing the Fast Feet for Phreedom 5K

 

The Homology team wearing purple to recognize MLD awareness month