MedlinePlus – Cerebral Cavernous Malformation

https://medlineplus.gov/genetics/condition/cerebral-cavernous-malformation/ 

Note:

This page explains cavernous malformations in clear, everyday language, including what they are and how they can affect the brain or spinal cord. It’s a strong starting point for readers new to the topic.

Tags: overview, plain language, medical basics

Mayo Clinic – Cavernous Malformations

https://www.mayoclinic.org/diseases-conditions/cavernous-malformations/symptoms-causes/syc-20360941 

Note:

This article describes symptoms, causes, and general approaches to care for cavernous malformations from a trusted medical source. 

Tags: overview, symptoms, care

Johns Hopkins Medicine – Cavernous Malformations

https://www.hopkinsmedicine.org/health/conditions-and-diseases/cavernous-malformations 

Note:

This resource provides a clear explanation of diagnosis and monitoring, with slightly more depth while remaining accessible. 

Tags: overview, diagnosis, care 

NCBI Bookshelf – Cerebral Cavernous Malformations

https://www.ncbi.nlm.nih.gov/books/NBK538144/ 

Note:

This chapter offers a more detailed medical explanation of cavernous malformations, including clinical considerations. 

Tags: more detailed/technical, medical reference 

Orphanet – Cavernous Malformations

https://www.orpha.net/en/disease/detail/221061 

Note:

This brief overview summarizes cavernous malformations as a rare condition and outlines key clinical features. 

Tags: more detailed/technical, rare disease overview 

UNM Health – Hispanic Mutation Linked to Stroke, Migraine, Seizure

https://www.unmhealth.org/stories/2023/12/hispanic-mutation-stroke-migraine-seizure.html 

Note:

This article explains how the CCM1 mutation affects some New Mexican families and why it matters locally. It connects medical research with real-world experiences in New Mexico.

Tags: New Mexico, community context, overview 

Alliance to Cure Cavernous Malformation – CCM1 Common Hispanic Mutation (NM focus)

https://www.alliancetocure.org/62463-2/ 

Note:

This page focuses on the Common Hispanic Mutation and why it appears more often in New Mexico, offering historical and community context.

Tags: New Mexico, CCM1, overview 

Baca Family Historical Project

https://bacafamily.org/ 

Note:

This site documents family history, genealogy, and community knowledge related to CCM1 in New Mexico.

Tags: New Mexico, community history, genealogy 

Baca Family – The Common Hispanic Mutation

https://bacafamily.org/the-common-hispanic-mutation/ 

Note:

This page explains CCM1 through the lens of New Mexican Spanish family history and shared ancestry.

Tags: New Mexico, ancestry, CCM1 

Baca Family – Identified Hispanic Names & CCM

https://bacafamily.org/identified-hispanic-names-ccm/ 

Note:

This resource lists family names historically associated with CCM1 research, intended for genealogy and historical context rather than diagnosis.

Tags: genealogy, New Mexico, family history 

Global Genes – Community Partnerships Addressing CCM1 in New Mexico

https://globalgenes.org/raredaily/leveraging-community-partnerships-to-address-a-rare-disease-behind-a-medical-mystery-in-new-mexico/ 

Note:

This article describes how community groups, clinicians, and researchers have worked together in New Mexico to address CCM1.

Tags: community outreach, public health, New Mexico 

Searchlight New Mexico – Rare Genetic Mutation Unusually Common in New Mexico

https://searchlightnm.org/rare-genetic-mutation-that-brings-threat-of-brain-bleeding-unusually-common-in-new-mexico/ 

Note:

This investigative report explains why CCM1 is unusually common in New Mexico, using interviews and historical research.

Tags: journalism, New Mexico, prevalence 

Searchlight New Mexico – Genealogical Research Identifies Likely Source

https://searchlightnm.org/genealogical-research-ids-likely-source-of-genetic-mutation-in-new-mexico/ 

Note:

This article explores how genealogical research helped trace the origins of the CCM1 mutation in New Mexico.

Tags: genealogy, New Mexico, history 

Undark – New Mexico’s “Common Hispanic Mutation”

https://undark.org/2017/10/10/new-mexico-common-hispanic-mutation/ 

Note:

This long-form science journalism piece combines research, ethics, and human stories to explain CCM1 in New Mexico.

Tags: science journalism, New Mexico, context 

KJZZ – Colonial History Offers Clues to Rare Genetic Disease

https://kjzz.org/content/8746/new-mexico%E2%80%99s-colonial-history-offers-clues-rare-genetic-disease 

Note:

This radio-based report discusses how colonial history contributed to the spread of CCM1 in New Mexico.

Tags: journalism, New Mexico, history 

MedlinePlus – KRIT1 Gene

https://medlineplus.gov/genetics/gene/krit1/ 

Note:

This page explains the KRIT1 gene and its role in CCM1 inheritance in clear, non-technical language.

Tags: genetics, plain language, overview 

Alliance to Cure – CCM1 Common Hispanic Mutation (Genetics)

https://www.alliancetocure.org/home/cavernous-angioma-in-depth/genetics/founder-mutations/ccm1-common-hispanic/ 

Note:

This resource explains how CCM1 functions as a founder mutation and how it is passed down through families.

Tags: genetics, CCM1, overview 

Alliance to Cure – Tale of Three Cristóbals

https://www.alliancetocure.org/home/cavernous-angioma-in-depth/genetics/founder-mutations/ccm1-common-hispanic/tale-of-three-cristobals/ 

Note:

This narrative illustrates how CCM1 inheritance can affect different family members in different ways across generations.

Tags: narrative, genetics, family history 

Alliance to Cure – Screening for Founder Mutations Through Ancestry

https://www.alliancetocure.org/screening-for-founder-mutations-through-ancestry/ 

Note:

This page explains how ancestry can be used to understand inherited risk, without encouraging or discouraging testing.

Tags: genetics, ancestry, screening 

NCBI Bookshelf – Genetics of Cerebral Cavernous Malformations

https://www.ncbi.nlm.nih.gov/books/NBK1293/ 

Note:

This chapter provides an in-depth look at the genetics of CCM, intended for readers comfortable with scientific detail.

Tags: more detailed/technical, genetics 

American Cancer Society – Talking with Family Members About Genetic Testing 

https://www.cancer.org/cancer/risk-prevention/genetics/genetic-testing-for-cancer-risk/talking-with-family-members-about-genetic-testing.html 

Note:

This article offers practical guidance on how to talk with family members about inherited health conditions and genetic testing. While it focuses on cancer risk, many of the communication principles apply to any inherited condition, including CCM1. If you’re considering whether—or how—to bring up genetic concerns with relatives, this resource provides thoughtful, respectful approaches. 

Tags: family communication, genetics, inherited conditions, patient education, optional resource 

UNM School of Medicine – Cerebral Cavernous Malformation (PDF)

https://www.nmms.org/wp-content/uploads/2024/01/UNM-SOM-Neurology-Cerebral-Cavernous-Malformation-.pdf 

Note:

This handout outlines symptoms, diagnosis, and monitoring approaches used at UNM.

Tags: care, New Mexico, more detailed/technical 

Alliance to Cure – CCM Care Guidelines

https://www.alliancetocure.org/home/for-patients/newly-diagnosed/ccm-care-guidelines/ 

Note:

This page summarizes current care and monitoring recommendations in patient-friendly language.

Tags: care, guidelines, overview 

Alliance to Cure – University of New Mexico Center of Excellence

https://www.alliancetocure.org/home/for-patients/centers-of-excellence/university-of-new-mexico-health-sciences/ 

Note:

This page describes UNM’s role as a Center of Excellence for CCM care and research.

Tags: care, New Mexico, clinical resources 

American Heart Association – Stroke Review Article

https://www.ahajournals.org/doi/10.1161/STROKEAHA.118.022314 

Note:

This article reviews stroke-related considerations connected to vascular malformations and is written for clinicians.

Tags: more detailed/technical, clinical research 

UNM Continuing Professional Learning – Recognizing and Treating the Common Hispanic Mutation (CCM1) 

https://cpl.health.unm.edu/Listing/Recognizing-and-Treating-the-Common-Hispanic-Mutation-CCM1-2098 

Note:

This continuing education course from the University of New Mexico is designed for healthcare providers and explains how to recognize and manage CCM1. Your doctor or healthcare provider may not be familiar with this mutation—especially if they did not train in New Mexico. If you ever need to discuss CCM1, this is a resource you could choose to share with them. 

Tags: provider resource, CME, New Mexico, CCM1, clinical education, shareable resource 

Alliance to Cure – Genetic Testing Overview

https://www.alliancetocure.org/home/cavernous-angioma-in-depth/genetics/genetic-testing-2/ 

Note:

This page explains genetic testing in general terms, including benefits and limitations, with an emphasis on informed choice.

Tags: genetics, testing, overview 

Alliance to Cure – Free Genetic Testing Program

https://www.alliancetocure.org/home/cavernous-angioma-in-depth/genetics/genetic-testing/free-genetic-testing-program/ 

Note:

This resource describes a program offering free genetic testing for eligible participants.

Tags: testing, research participation 

National Society of Genetic Counselors – Find a Genetic Counselor

https://findageneticcounselor.nsgc.org/ 

Note:

This tool helps locate certified genetic counselors for those seeking professional guidance.

Tags: counseling, support, directory 

Cavernous Malformation Registry

https://ccmregistry.org/

https://www.ccmregistry.org/about-cavernous-malformation-registry 

Note:

These pages explain the CCM Registry and its role in advancing research through voluntary participation.

Tags: research, registry, community 

Brain Vascular Malformation Consortium

https://bvmc.rarediseasesnetwork.org/our-consortium 

Note:

This site describes a national research consortium studying vascular malformations.

Tags: more detailed/technical, research 

ClinicalTrials.gov – CCM-Related Study

https://clinicaltrials.gov/study/NCT01764529 

Note:

This listing provides formal information about a clinical study related to CCM and is written for research audiences.

Tags: more detailed/technical, clinical research 

*2018 Update for The Common Hispanic Mutation. (2021). The Baca Family Historical Project. https://bacafamily.org/the-common-hispanic-mutation/

About the Brain Vascular Malformation Consortium (BVMC). (2026). Brain Vascular Malformation Consortium. https://bvmc.rarediseasesnetwork.org/our-consortium

Ahtone, T. (2013, July 12). New Mexico’s Colonial History Offers Clues To A Rare Genetic Disease. KJZZ. https://www.kjzz.org/2013-07-12/content-8746-new-mexicos-colonial-history-offers-clues-rare-genetic-disease

Caton, M. T., Shenoy, V. S., & Karsonovich, T. (2025, January 21). Cerebral Cavernous Malformations. PubMed; StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK538144/

Cavernous Malformations. (2019, May 13). Www.hopkinsmedicine.org. https://www.hopkinsmedicine.org/health/conditions-and-diseases/cavernous-malformations

CCM Care Guidelines - 2025 Update. (2025, May 22). Alliance to Cure Cavernous Malformation. https://www.alliancetocure.org/home/for-patients/newly-diagnosed/ccm-care-guidelines/

CCM1 Common Hispanic Mutation. (2022, April 18). Alliance to Cure Cavernous Malformation. https://www.alliancetocure.org/home/cavernous-angioma-in-depth/genetics/founder-mutations/ccm1-common-hispanic/

Cerebral cavernous malformation: MedlinePlus Genetics. (2020, April 1). Medlineplus.gov. https://medlineplus.gov/genetics/condition/cerebral-cavernous-malformation/

Driving a Cure for Cavernous Malformation. Join us. (2022). Alliance to Cure Cavernous Malformation. https://ccmregistry.org/

Find a Genetic Counselor. (n.d.). Findageneticcounselor.nsgc.org; National Society of Genetic Counselors. https://findageneticcounselor.nsgc.org/

Flemming, K. D., Smith, E., Marchuk, D., & Derry, W. B. (2023, July 27). Familial Cerebral Cavernous Malformations. PubMed; University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK1293/

Free Genetic Testing Program. (2026, January 30). Alliance to Cure Cavernous Malformation. https://www.alliancetocure.org/home/cavernous-angioma-in-depth/genetics/genetic-testing/free-genetic-testing-program/

Genetic Testing. (2025, April 9). Alliancetocure.org. https://www.alliancetocure.org/home/cavernous-angioma-in-depth/genetics/genetic-testing-2/

Gonzales, J. (2020, March 10). Tale of Three Cristobals. Alliance to Cure Cavernous Malformation. https://www.alliancetocure.org/home/cavernous-angioma-in-depth/genetics/founder-mutations/ccm1-common-hispanic/tale-of-three-cristobals/

Identified Hispanic Names – CCM. (2021). The Baca Family Historical Project. https://bacafamily.org/identified-hispanic-names-ccm/

KRIT1 gene: MedlinePlus Genetics. (2012). Medlineplus.gov. https://medlineplus.gov/genetics/gene/krit1/

Leveraging Community Partnerships to Address a Rare Disease Behind a Medical Mystery in New Mexico. (2023, August 10). Global Genes. https://globalgenes.org/raredaily/leveraging-community-partnerships-to-address-a-rare-disease-behind-a-medical-mystery-in-new-mexico/

Mayo Clinic Staff. (2024, July 20). Cavernous malformations - Symptoms and causes. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/cavernous-malformations/symptoms-causes/syc-20360941

O’Hara, M. (2025a, October 18). Genealogical research IDs likely source of genetic mutation in New Mexico. Searchlight New Mexico. https://searchlightnm.org/genealogical-research-ids-likely-source-of-genetic-mutation-in-new-mexico/

O’Hara, M. (2025b, October 18). Rare genetic mutation that brings threat of brain bleeding unusually common in New Mexico. Searchlight New Mexico. https://searchlightnm.org/rare-genetic-mutation-that-brings-threat-of-brain-bleeding-unusually-common-in-new-mexico/

Orphanet: Familial cerebral cavernous malformation. (2019, August). Orpha.net. https://www.orpha.net/en/disease/detail/221061

Screening for Founder Mutations Through AncestryDNA. (2023, January 18). Alliance to Cure Cavernous Malformation. https://www.alliancetocure.org/screening-for-founder-mutations-through-ancestry/

The Baca Family Historical Project. (2021). The Baca Family Historical Project. https://bacafamily.org/

The Baca Legacy: Tracing a 400-Year Genetic Story of CCM in New Mexico. (2025, October 25). Alliancetocure.org. https://www.alliancetocure.org/62463-2/

The Cavernous Malformation Registry. (2022). Alliance to Cure Cavernous Malformation. https://www.ccmregistry.org/about-cavernous-malformation-registry

Torbey, M. (2023, December 15). “Hispanic Mutation”: Why New Mexico Is an Epicenter for Stroke, Migraine and Seizures. Unmhealth.org. https://unmhealth.org/stories/2023/12/hispanic-mutation-stroke-migraine-seizure.html

University of California, San Francisco. (2025, May 29). Modifiers of Disease Severity in Cerebral Cavernous Malformations. Clinicaltrials.gov. https://clinicaltrials.gov/study/NCT01764529

University of New Mexico Health Sciences. (2026, January 12). Alliance to Cure Cavernous Malformation. https://www.alliancetocure.org/home/for-patients/centers-of-excellence/university-of-new-mexico-health-sciences/

UNM SOM Neurology - CEREBRAL CAVERNOUS MALFORMATION. (n.d.). https://www.nmms.org/wp-content/uploads/2024/01/UNM-SOM-Neurology-Cerebral-Cavernous-Malformation-.pdf

Van Note, S. (2017, October 10). For New Mexico Families, Connecting the Dots of an Ancestral Disease. Undark Magazine. https://undark.org/2017/10/10/new-mexico-common-hispanic-mutation/

Zafar, A., Quadri, S. A., Farooqui, M., Ikram, A., Robinson, M., Hart, B. L., Mabray, M. C., Vigil, C., Tang, A. T., Kahn, M. L., Yonas, H., Lawton, M. T., Kim, H., & Morrison, L. (2019). Familial Cerebral Cavernous Malformations. Stroke, 50(5), 1294–1301. https://doi.org/10.1161/strokeaha.118.022314