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Article ; Online: Moving the Needle Toward Equity: What NIH Is Doing to Promote Diversity, Inclusion, and Accessibility in Research on Intellectual and Developmental Disabilities.

King, Tracy M / Parisi, Melissa A

American journal on intellectual and developmental disabilities

2023 Volume 128, Issue 5, Page(s) 382–385

Abstract: As a major funder of research on intellectual and developmental disabilities (IDD), NIH has a broad view of the profound impact of cultural and structural barriers on the characteristics of IDD study populations and the composition of the IDD research ... ...

Abstract	As a major funder of research on intellectual and developmental disabilities (IDD), NIH has a broad view of the profound impact of cultural and structural barriers on the characteristics of IDD study populations and the composition of the IDD research workforce. While long overdue, multiple efforts are currently underway across NIH aimed at addressing these barriers and increasing meaningful representation in biomedical and behavioral research.
MeSH term(s)	Child ; Humans ; Developmental Disabilities ; Diversity, Equity, Inclusion ; National Institutes of Health (U.S.) ; Biomedical Research/trends
Language	English
Publishing date	2023-08-29
Publishing country	United States
Document type	Journal Article ; Comment
ZDB-ID	2477909-X
ISSN	1944-7558 ; 1944-7515
ISSN (online)	1944-7558
ISSN	1944-7515
DOI	10.1352/1944-7558-128.5.382
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Article ; Online: Note from the editors.

Urv, Tiina K / Parisi, Melissa A

American journal of medical genetics. Part C, Seminars in medical genetics

2023 Volume 193, Issue 1, Page(s) 5–6

Language	English
Publishing date	2023-01-02
Publishing country	United States
Document type	Journal Article
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.32039
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Article: The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity.

Parisi, Melissa A

Translational science of rare diseases

2019 Volume 4, Issue 1-2, Page(s) 25–49

Abstract: Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the cerebellum and brainstem identified as the "molar tooth sign" on brain MRI. Other ... ...

Abstract	Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the cerebellum and brainstem identified as the "molar tooth sign" on brain MRI. Other universal features include hypotonia with later ataxia and intellectual disability/developmental delay, with additional features consisting of oculomotor apraxia and abnormal respiratory pattern. Notably, other, more variable features include renal cystic disease, typically nephronophthisis, retinal dystrophy, and congenital hepatic fibrosis; skeletal changes such as polydactyly and findings consistent with short-rib skeletal dysplasias are also seen in many subjects. These pleiotropic features are typical of a number of disorders of the primary cilium, and make the identification of causal genes challenging given the significant overlap between JS and other ciliopathy conditions such as nephronophthisis and Meckel, Bardet-Biedl, and COACH syndromes. This review will describe the features of JS, characterize the 35 known genes associated with the condition, and describe some of the genetic conundrums of JS, such as the heterogeneity of founder effects, lack of genotype-phenotype correlations, and role of genetic modifiers. Finally, aspects of JS and related ciliopathies that may pave the way for development of therapeutic interventions, including gene therapy, will be described.
Language	English
Publishing date	2019-07-04
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2900592-9
ISSN	2214-6512 ; 2214-6490
ISSN (online)	2214-6512
ISSN	2214-6490
DOI	10.3233/TRD-190041
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Article ; Online: Gene-targeted therapies: Overview and implications.

Brooks, P J / Urv, Tiina K / Parisi, Melissa A

American journal of medical genetics. Part C, Seminars in medical genetics

2023 Volume 193, Issue 1, Page(s) 13–18

Abstract: Gene-targeted therapies (GTTs) are therapeutic platforms that are in principle applicable to large numbers of monogenic diseases. The rapid development and implementation of GTTs have profound implications for rare monogenic disease therapy development. ... ...

Abstract	Gene-targeted therapies (GTTs) are therapeutic platforms that are in principle applicable to large numbers of monogenic diseases. The rapid development and implementation of GTTs have profound implications for rare monogenic disease therapy development. This article provides a brief summary of the primary types of GTTs and a brief overview of the current state of the science. It also serves as a primer for the articles in this special issue.
MeSH term(s)	Humans ; Genetic Therapy
Language	English
Publishing date	2023-03-02
Publishing country	United States
Document type	Journal Article
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.32033
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Article ; Online: Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics.

Minear, Mollie A / Phillips, Megan N / Kau, Alice / Parisi, Melissa A

American journal of medical genetics. Part C, Seminars in medical genetics

2022 Volume 190, Issue 2, Page(s) 138–152

Abstract: Newborn screening (NBS) is a successful public health initiative that effectively identifies pre-symptomatic neonates so that treatment can be initiated before the onset of irreversible morbidity and mortality. Legislation passed in 2008 has supported a ... ...

Abstract	Newborn screening (NBS) is a successful public health initiative that effectively identifies pre-symptomatic neonates so that treatment can be initiated before the onset of irreversible morbidity and mortality. Legislation passed in 2008 has supported a system of state screening programs, educational resources, and an evidence-based review process to add conditions to a recommended universal newborn screening panel (RUSP). The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, has promoted NBS research to advance legislative goals by supporting research that will uncover fundamental mechanisms of disease, develop treatments for NBS disorders, and promote pilot studies to test implementation of new conditions. NICHD's partnerships with other federal agencies have contributed to activities that support nominations of new conditions to the RUSP. The NIH's Newborn Sequencing In Genomic Medicine and Public Health (NSIGHT) initiative funded research projects that considered how genomic sequencing could be integrated into NBS and its ethical ramifications. Recently, the workshop, "Gene Targeted Therapies: Early Diagnosis and Equitable Delivery," has explored the possibility of expanding NBS to include genetic diagnosis and precision, gene-based therapies. Although hurdles remain to realize such a vision, broad engagement of multiple stakeholders is essential to advance genomic medicine within NBS.
MeSH term(s)	Infant, Newborn ; Child ; Humans ; Neonatal Screening ; Pilot Projects ; Public Health
Language	English
Publishing date	2022-09-14
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.31997
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Article: Newborn Screening: Beyond the Spot.

Urv, Tiina K / Parisi, Melissa A

Advances in experimental medicine and biology

2017 Volume 1031, Page(s) 323–346

Abstract: The newborn screening paradigm of testing all newborns in the United States for treatable conditions within the first few hours of birth has proven to be a remarkable success story in the realm of public health by reducing neonatal and childhood ... ...

Abstract	The newborn screening paradigm of testing all newborns in the United States for treatable conditions within the first few hours of birth has proven to be a remarkable success story in the realm of public health by reducing neonatal and childhood morbidity and mortality. The Newborn Screening Saves Lives Act of 2007 and its successor, the Reauthorization Act of 2014, legislated the establishment of a Department of Health and Human Services Advisory Committee to make recommendations around newborn screening and a methodology to establish and add new conditions to a Recommended Uniform Screening Panel (RUSP) which currently includes 34 core conditions. In spite of the absence of a federal mandate that requires each of the states in the U.S. to screen for the disorders on the RUSP, most state public health laboratories have adopted the conditions on this panel. Moreover, the evolution of the evidence-based review process for adding new conditions to the RUSP has led to improvements in incorporating the public health impact and feasibility and implementation considerations. The cooperation between the federal partners who support implementation and rollout of state-based screening programs, develop technical standards and proficiency materials for laboratories, review and approve new technology platforms, and promote research to develop new assays and treatments for screenable disorders, points to the success of the newborn screening enterprise nationwide. As new technologic advances are made in the realm of genomic sequencing, the potential for incorporating these technologies holds great promise for newborn screening, but the ethical ramifications must be carefully considered to avoid harming the existing trust in the program.
MeSH term(s)	Dried Blood Spot Testing/standards ; Early Diagnosis ; Humans ; Infant, Newborn ; Neonatal Screening/adverse effects ; Neonatal Screening/methods ; Neonatal Screening/standards ; Practice Guidelines as Topic ; Predictive Value of Tests ; Prognosis ; Rare Diseases/blood ; Rare Diseases/diagnosis ; Rare Diseases/therapy ; Risk Assessment ; Risk Factors
Language	English
Publishing date	2017
Publishing country	United States
Document type	Journal Article ; Review
ISSN	2214-8019 ; 0065-2598
ISSN (online)	2214-8019
ISSN	0065-2598
DOI	10.1007/978-3-319-67144-4_19
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Article ; Online: When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective.

Parisi, Melissa A / Caggana, Michele / Cohen, Jennifer L / Gold, Nina B / Morris, Jill A / Orsini, Joseph J / Urv, Tiina K / Wasserstein, Melissa P

American journal of medical genetics. Part C, Seminars in medical genetics

2023 Volume 193, Issue 1, Page(s) 44–55

Abstract: This paper focuses on the question of, "When is the best time to identify an individual at risk for a treatable genetic condition?" In this review, we describe a framework for considering the optimal timing for pursuing genetic and genomic screening for ... ...

Abstract	This paper focuses on the question of, "When is the best time to identify an individual at risk for a treatable genetic condition?" In this review, we describe a framework for considering the optimal timing for pursuing genetic and genomic screening for treatable genetic conditions incorporating a lifespan approach. Utilizing the concept of a carousel that represents the four broad time periods when critical decisions might be made around genetic diagnoses during a person's lifetime, we describe genetic testing during the prenatal period, the newborn period, childhood, and adulthood. For each of these periods, we describe the objectives of genetic testing, the current status of screening or testing, the near-term vision for the future of genomic testing, the advantages and disadvantages of each approach, and the feasibility and ethical considerations of testing and treating. The notion of a "Genomics Passbook" is one where an early genomic screening evaluation could be performed on each individual through a public health program, with that data ultimately serving as a "living document" that could be queried and/or reanalyzed at prescribed times during the lifetime of that person, or in response to concerns about symptoms of a genetic disorder in that individual.
MeSH term(s)	Infant, Newborn ; Humans ; Child ; Longevity ; Genetic Testing
Language	English
Publishing date	2023-03-06
Publishing country	United States
Document type	Review ; Journal Article
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.32036
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Article ; Online: The National Institutes of Health INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project: Accelerating research discoveries for people with Down syndrome across the lifespan.

Bardhan, Sujata / Li, Huiqing / Tarver, Erika / Schramm, Charlene / Brown, Marishka / Garcia, Linda / Schwartz, Bryanna / Mazzucco, Anna / Natarajan, Nikila / Walsh, Elizabeth / Ryan, Laurie / Pearson, Gail / Parisi, Melissa A

American journal of medical genetics. Part C, Seminars in medical genetics

2024 Volume 196, Issue 1, Page(s) e32081

Abstract: The National Institutes of Health (NIH) has a long-standing history of support for research in Down syndrome (DS). In response to a 2018 congressional directive for a trans-NIH initiative to address medical issues in DS, NIH launched the INCLUDE Project ( ...

Abstract	The National Institutes of Health (NIH) has a long-standing history of support for research in Down syndrome (DS). In response to a 2018 congressional directive for a trans-NIH initiative to address medical issues in DS, NIH launched the INCLUDE Project (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE). Reflecting the three INCLUDE components of basic science research, cohort development, and clinical trials, the Project has published funding opportunities to address conditions such as immune disorders and Alzheimer's disease. Due to a steady expansion in dedicated funding over its first 5 years, INCLUDE has invested $258 M in over 250 new research projects. INCLUDE also supports training initiatives to expand the number and diversity of investigators studying DS. NIH has funded an INCLUDE Data Coordinating Center that is collecting de-identified clinical information and multi-omics data from research participants for broad data sharing and secondary analyses. Through the DS-Connect® registry, INCLUDE investigators can access recruitment support. The INCLUDE Research Plan articulates research goals for the program, with an emphasis on diversity of research participants and investigators. Finally, a new Cohort Development Program is poised to increase the impact of the INCLUDE Project by recruiting a large DS cohort across the lifespan.
MeSH term(s)	United States/epidemiology ; Humans ; Down Syndrome ; Biomedical Research ; Longevity ; Alzheimer Disease ; National Institutes of Health (U.S.)
Language	English
Publishing date	2024-01-10
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.32081
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Article ; Online: Clinical and molecular features of Joubert syndrome and related disorders.

Parisi, Melissa A

American journal of medical genetics. Part C, Seminars in medical genetics

2009 Volume 151C, Issue 4, Page(s) 326–340

Abstract: Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure ...

Abstract	Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/or function of the primary cilium. The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging and is known as the molar tooth sign (MTS); other diagnostic criteria include intellectual disability, hypotonia, and often, abnormal respiratory pattern and/or abnormal eye movements. In addition, a broad spectrum of other anomalies characterize Joubert syndrome and related disorders (JSRD), and may include retinal dystrophy, ocular coloboma, oral frenulae and tongue tumors, polydactyly, cystic renal disease (including cystic dysplasia or juvenile nephronophthisis), and congenital hepatic fibrosis. The clinical course can be variable, but most children with this condition survive infancy to reach adulthood. At least eight genes cause JSRD, with some genotype-phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome. Several of the causative genes for JSRD are implicated in other ciliary disorders, such as juvenile nephronophthisis and Meckel syndrome, illustrating the close association between these conditions and their overlapping clinical features that reflect a shared etiology involving the primary cilium.
MeSH term(s)	Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Adolescent ; Brain/abnormalities ; Brain/pathology ; Child ; Child, Preschool ; Cilia/pathology ; Ciliary Motility Disorders/genetics ; Congenital Abnormalities/diagnosis ; Congenital Abnormalities/genetics ; Developmental Disabilities/diagnosis ; Developmental Disabilities/genetics ; Female ; Genes, Recessive ; Genotype ; Humans ; Infant ; Male ; Pregnancy ; Prenatal Diagnosis ; Syndrome
Language	English
Publishing date	2009-10-30
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.30229
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Article ; Online: Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from funders.

Hartman, Adam L / Hechtelt Jonker, Anneliene / Parisi, Melissa A / Julkowska, Daria / Lockhart, Nicole / Isasi, Rosario

European journal of human genetics : EJHG

2019 Volume 28, Issue 2, Page(s) 174–181

Abstract: Recent interest in personalized medicine has highlighted the importance of research in ethical, legal, and social issues (ELSI). Issues in ELSI research may be magnified in the rare diseases population (i.e., small numbers of affected individuals, ... ...

Abstract	Recent interest in personalized medicine has highlighted the importance of research in ethical, legal, and social issues (ELSI). Issues in ELSI research may be magnified in the rare diseases population (i.e., small numbers of affected individuals, challenges in maintaining confidentiality, and paucity of treatments for diseases where natural history information may be limited). More than other areas of research, potential barriers include the lack of funding opportunities and appropriate review processes for applications to funding agencies. The ELSI Working Group of the International Rare Diseases Research Consortium (IRDiRC) performed an informal survey on ELSI funding initiatives to learn more about different funding mechanisms and to identify potential gaps in funding opportunities. The Working Group discusses these challenges and highlights the role of funding agencies and partners such as patient advocacy groups, specialists in social sciences and humanities, and clinicians to advance ELSI research in rare diseases.
MeSH term(s)	Financing, Organized/economics ; Financing, Organized/ethics ; Financing, Organized/legislation & jurisprudence ; Fund Raising/economics ; Fund Raising/ethics ; Fund Raising/legislation & jurisprudence ; Humans ; Organizations, Nonprofit ; Rare Diseases/economics
Language	English
Publishing date	2019-09-19
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-019-0513-3
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