Symptoms and General Pathology

All Conditions

Neoplasms

Urinary Tract, Sexual Organs, and Pregnancy Conditions

Gland and Hormone Related Diseases

Nervous System Diseases

Diseases and Abnormalities at or Before Birth

Behaviors and Mental Disorders

Skin and Connective Tissue Diseases

Digestive System Diseases

Nutritional and Metabolic Diseases

Rare Diseases

Syndrome

Ovarian Neoplasms

Carcinoma, Ovarian Epithelial

Huntington Disease

Hereditary Breast and Ovarian Cancer Syndrome

Colorectal Neoplasms

Colorectal Neoplasms, Hereditary Nonpolyposis

Intestinal Neoplasms

Gastrointestinal Neoplasms

Digestive System Neoplasms

Gastrointestinal Diseases

Colonic Diseases

Intestinal Diseases

Endocrine Gland Neoplasms

Ovarian Diseases

Adnexal Diseases

Genital Diseases, Female

Genital Diseases

Urogenital Diseases

Female Urogenital Diseases

Pregnancy Complications

Female Urogenital Diseases and Pregnancy Complications

Genital Neoplasms, Female

Urogenital Neoplasms

Endocrine System Diseases

Gonadal Disorders

Ganglion Cysts

Synovial Cyst

Basal Ganglia Diseases

Brain Diseases

Central Nervous System Diseases

Dementia

Chorea

Dyskinesias

Movement Disorders

Heredodegenerative Disorders, Nervous System

Neurodegenerative Diseases

Genetic Diseases, Inborn

Cognition Disorders

Neurocognitive Disorders

Mental Disorders

Psychotic Disorders

Breast Neoplasms

Neoplastic Syndromes, Hereditary

Breast Diseases

Skin Diseases

DNA Repair-Deficiency Disorders

Metabolic Diseases

Ovarian Cancer

Ovarian Epithelial Cancer

No interventions will be administered. Participation involves one semi-structured interview that will last up to one hour. The interview will be scheduled at a time and place that is convenient for the participant. The participant will be given the option to conduct the interview via phone, Skype, or in-person at Johns Hopkins.

Debra Mathews, PhD, MA

This study is being conducted to learn more about family communication of genetic risk information. Semi-structured interviews lasting up to one hour will be conducted with three populations: parent/child pairs at risk for Huntington's Disease, parent/child pairs at risk for hereditary cancer, and genetic counselors.

The investigators currently lack an adequate understanding of how parents and children feel about genetic risk/status, how it is communicated, and how it influences wellbeing and family relationships. This understanding is vital in order for genetic counselors and other health care professionals to provide the best guidance possible to families. However, little research has been conducted on the impact of genetic risk information or testing on children from the perspective of the child. The research proposed here is uniquely positioned to help fill this gap.

For this study, the investigators will interview 15-20 parent/child pairs who are at risk for Huntington's Disease (HD), 15-20 parent/child pairs who are at risk for hereditary cancer, and 15-20 certified genetic counselors. Interviews will last no more than one hour and will be conducted at a time and place that is convenient for the participant. The investigators will offer participants a choice of conducting the interview in a private conference room at the Berman Institute of Bioethics, or remotely by Skype or telephone. Parents and children will be interviewed separately. Parents will be asked about the decision process behind how and when they disclosed genetic information to their child, style of family communication, advice for other parents in similar situations, and other questions related to the subject of communication of genetic information to minors. Children will be asked about their experience learning genetic risk information, style of family communication, how they felt, advice for other kids in similar situations, and other questions related to the subject of communication of genetic information to minors.

Genetic Risk: Whether, When, and How to Tell Adolescents

Qualitative interview performed at one occasion where the patient describes when and how genetic risk information was disclosed to minor as well as perspectives from both parent and child.

National Human Genome Research Institute (NHGRI)

Johns Hopkins University

Immune System Diseases

Eye Diseases

Parkinson Disease

Diabetes Mellitus

Diabetes Mellitus, Type 1

Alzheimer Disease

Macular Degeneration

Parkinsonian Disorders

Synucleinopathies

Tauopathies

Retinal Degeneration

Retinal Diseases

Glucose Metabolism Disorders

Autoimmune Diseases

Familial Alzheimer Disease

Biological sample collection for biobanking and research

Biological sample collection

Scott Noggle, PhD

The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to study different conditions and diseases by using cells from the body (such as skin or blood cells). NYSCF uses these samples to make stem cells and other types of cells, conduct research on the samples, perform genetic testing, and/or store these samples for future use.

Through this research, scientists hope to identify future treatments or even cures.

Researchers at NYSCF study diverse diseases, conditions, and traits by creating "pluripotent" stem cells. These stem cells can become any cell in the human body, including cells that may be difficult, invasive, or even impossible to obtain directly. For example, researchers may create pancreatic insulin-producing cells to learn more about type 1 diabetes, or brain cells to learn more about Parkinson's disease.

Additionally, researchers perform genetic testing to learn more about DNA, a material in most cells that contains instructions for the body's development and functions (such as traits like eye color and risk of certain diseases). A piece of DNA that determines the specific role of a cell is called a "gene." If the instructions in a gene are abnormal, this can lead to disease.

Participation in the study involves: (1) completion of a health questionnaire, (2) providing a skin and/or blood sample from which stem cells may be created, (3) possible collection of a saliva sample for genetic analysis, and (4) possible future follow-up to provide additional information or learn about other research studies.

This study is not a clinical trial.

Skin biopsy (2-3mm) and/or blood (up to 50 mL); saliva; excess/leftover biospecimens that were (or will be) collected for other purposes (e.g., medical procedure)

Biological Sample Collection for Research and Biobanking

There are no primary endpoints planned for this biobank; endpoints will be specific to research projects that utilize samples/data contained in the biobank. Projects may investigate the biology, etiology, manifestations, progression, risk factors, genetic underpinnings, and treatment of diseases, conditions, and traits.

Laser and Skin Surgery Center of New York

New York Stem Cell Foundation Research Institute

Senior Vice President, Research

Heart and Blood Diseases

Wounds and Injuries

Diabetes Mellitus, Type 2

Uterine Cervical Neoplasms

Stress Disorders, Post-Traumatic

Lewy Body Disease

Paralysis

Sclerosis

Multiple Sclerosis

Atrophy

Stress Disorders, Traumatic

Vaginal Neoplasms

Vulvar Neoplasms

Motor Neuron Disease

Amyotrophic Lateral Sclerosis

Uterine Neoplasms

Frontotemporal Dementia

Aphasia, Primary Progressive

Pick Disease of the Brain

Supranuclear Palsy, Progressive

Corticobasal Degeneration

Multiple System Atrophy

Shy-Drager Syndrome

Neuronal Ceroid-Lipofuscinoses

Aphasia

Late Onset Disorders

Demyelinating Autoimmune Diseases, CNS

Autoimmune Diseases of the Nervous System

Demyelinating Diseases

Uterine Cervical Diseases

Uterine Diseases

Trauma and Stressor Related Disorders

Pathological Conditions, Anatomical

Neuromuscular Diseases

Spinal Cord Diseases

TDP-43 Proteinopathies

Proteostasis Deficiencies

Vulvar Diseases

Autonomic Nervous System Diseases

Primary Dysautonomias

Hypotension

Vascular Diseases

Frontotemporal Lobar Degeneration

Speech Disorders

Language Disorders

Communication Disorders

Neurobehavioral Manifestations

Neurologic Manifestations

Ophthalmoplegia

Ocular Motility Disorders

Cranial Nerve Diseases

Vaginal Diseases

Lipidoses

Subjects in this group will have a diagnosis and/or medical history of a condition, disease, genetic background, or trait of interest.

Subjects in this group will serve as healthy controls.

Skin biopsy (2-3mm) and/or blood (up to 50 mL); saliva; excess/ leftover biospecimens that were (or will be) collected for other purposes (e.g., medical procedure).

Biological Sample Collection

Becca Wood

Lisa Voltolina

Scott Noggle

The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate diverse disease research using cells from the body (such as skin or blood cells) to make stem cells and other types of cells, conduct research on the samples, perform genetic testing, and store the samples for future use.

Through this research, researchers hope to identify future treatments or even cures for the major diseases of our time.

Researchers at the New York Stem Cell Foundation (NYSCF) Research Institute study diverse diseases, conditions, and traits by creating stem cells from biological samples. These "pluripotent" stem cells can become any cell in the human body, including cells that may be difficult, invasive, or impossible to obtain directly.

Additionally, researchers perform genetic testing to learn more about DNA, a material in most cells that contains instructions for the body's development and functions (such as traits like eye color and risk of certain diseases). A piece of DNA that determines the specific role of a cell is called a "gene." If the instructions in a gene are abnormal, this can lead to disease.

Participation in the study involves: (1) completion of health questionnaires, (2) providing a skin and/or blood sample from which stem cells may be created, (3) collection of a saliva sample for genetic analysis, and (4) possible future followup to provide additional information or learn about other research studies.

This study is not a clinical trial.

NYSCF Scientific Discovery Biobank

Establishment of a diverse repository of biological samples, stem cell lines, derivatives, and associated information to support investigations into the biology, etiology, manifestations, progression, risk factors, genetic underpinnings, and treatment of diseases, conditions, and traits.

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Genetic Risk: Whether, When, and How to Tell Adolescents	NCT03421327	Huntington Dise... Hereditary Brea... Hereditary Canc... Hereditary Non-... Hereditary Non-...		15 Years -	Johns Hopkins University
Biological Sample Collection for Research and Biobanking	NCT04270604	Parkinson Disea... Diabetes Mellit... Macular Degener... ALS Cancer Alzheimer Disea... Huntington Dise...	Biological samp...	1 Month - 100 Years	New York Stem Cell Foundation Research Institute
Biological Sample Collection for Research and Biobanking	NCT04270604	Parkinson Disea... Diabetes Mellit... Macular Degener... ALS Cancer Alzheimer Disea... Huntington Dise...	Biological samp...	1 Month - 100 Years	New York Stem Cell Foundation Research Institute
Biological Sample Collection for Research and Biobanking	NCT04270604	Parkinson Disea... Diabetes Mellit... Macular Degener... ALS Cancer Alzheimer Disea... Huntington Dise...	Biological samp...	1 Month - 100 Years	New York Stem Cell Foundation Research Institute
NYSCF Scientific Discovery Biobank	NCT06203106	ALS Amyotrophic Lat... Alzheimer Disea... Alzheimer Disea... Alzheimer Disea... Batten Disease Corticobasal De... Dementia Frontotemporal ... Huntington Dise... Lewy Body Disea... Multiple Sclero... Multiple System... Parkinson Disea... Parkinson's Dis... Progressive Sup... INAD Diabetes Diabetes Mellit... Diabetes Mellit... Diabetes Mellit... Macular Degener... Ovarian Cancer Cervical Cancer Uterine Cancer Vaginal Cancer Vulvar Cancer PTSD Post Traumatic ...	Biological Samp...	30 Days -	New York Stem Cell Foundation Research Institute

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