<html>
<head>
<meta http-equiv="Content-Type" content="text/html; charset=utf-8">
</head>
<body style="overflow-wrap: break-word; -webkit-nbsp-mode: space; line-break: after-white-space;">
<div>Dear Colleagues:</div>
<div>
<div>
<div>
<p class="MsoNormal" style="margin: 0in;"><o:p></o:p></p>
</div>
<div>
<p class="MsoNormal" style="margin: 0in;"><o:p> </o:p></p>
</div>
<div>
<p class="MsoNormal" style="margin: 0in;"> NICHD is starting its 2025 Strategic planning.</p>
</div>
<div>
<p class="MsoNormal" style="margin: 0in;"><o:p></o:p></p>
</div>
<div>
<p class="MsoNormal" style="margin: 0in;">"<i>NICHD has now released an RFI for public comment on the 2025 Strategic Plan research priorities. We welcome any feedback you have on the priorities noted for the next five years and look forward to reading your
responses. You can access the RFI </i><i><a href="https://urldefense.com/v3/__https:/grants.nih.gov/grants/guide/notice-files/NOT-HD-24-028.html__;!!NiUAmZJ8c1GNWg!Tjqj9nVCCg7qbwCbhS1C-FoJOfAec29iJdQrHG5RKqqAJRZkXkZ168kj0_4AointVm7mV9f-4vSSdql-eh4flBMB34RPRoISmJKHOriV$" originalsrc="https://urldefense.com/v3/__https:/grants.nih.gov/grants/guide/notice-files/NOT-HD-24-028.html__;!!NiUAmZJ8c1GNWg!Tjqj9nVCCg7qbwCbhS1C-FoJOfAec29iJdQrHG5RKqqAJRZkXkZ168kj0_4AointVm7mV9f-4vSSdql-eh4flBMB34RPRoISmJKHOriV$" shash="t9mnaa2tDSDSI7N9n9d9ADfmSV+ETeGMZkEvu98ySZ9cIbG0LG9uuG/R5v8bN5ZO8OTqxxjbE9F1QDMX0zGY5YpG2ihpFDdRrJOpdl4aUui3J9AJpg7e/Trj4NraQeKyTxMPY09eaUJED8fGvrtw8mxRqPa82uOBBmi3PyRhROM=" style="color: blue;"><span style="color: rgb(70, 120, 134);">here</span></a></i><i>.
The RFI is open for public comment until September 27, 2024.</i>”<o:p></o:p></p>
</div>
<div>
<p class="MsoNormal" style="margin: 0in;"><o:p> </o:p></p>
</div>
<div>
<table class="MsoNormalTable" border="0" cellspacing="0" cellpadding="0" width="300" style="width: 225pt; background: rgb(229, 230, 233); border-collapse: collapse;">
<tbody>
<tr>
<td style="padding: 0in;">
<table class="MsoNormalTable" border="0" cellspacing="0" cellpadding="0" width="300" style="width: 225pt; background-image: none; background-position: 0% 0%; background-size: auto; background-repeat: repeat; background-attachment: scroll; background-origin: padding-box; background-clip: border-box;">
<tbody>
<tr>
<td style="padding: 6pt 0in;">
<div style="margin-left: 12pt; margin-right: 12pt; max-width: 100%; overflow: hidden;">
<p class="MsoNormal" style="margin: 0in;"><span style="font-size: 14px;"><a href="https://urldefense.com/v3/__https:/grants.nih.gov/grants/guide/notice-files/NOT-HD-24-028.html__;!!NiUAmZJ8c1GNWg!Tjqj9nVCCg7qbwCbhS1C-FoJOfAec29iJdQrHG5RKqqAJRZkXkZ168kj0_4AointVm7mV9f-4vSSdql-eh4flBMB34RPRoISmJKHOriV$" originalsrc="https://urldefense.com/v3/__https:/grants.nih.gov/grants/guide/notice-files/NOT-HD-24-028.html__;!!NiUAmZJ8c1GNWg!Tjqj9nVCCg7qbwCbhS1C-FoJOfAec29iJdQrHG5RKqqAJRZkXkZ168kj0_4AointVm7mV9f-4vSSdql-eh4flBMB34RPRoISmJKHOriV$" shash="dWooOaON0Jj2D+aKXBfl68N7RXHYsasoh/RfT/m9zSDUVdjScdJpYsZzsrTLn6Kvp/cub+wWkdYYpkMqnbQXPAeHwfuqWWtmPtG4iJKadn3/YVv2akp6rw9e4LenP9k6GqbaJ8GDs9J4JxDORHuyJyUeVkZOXwngc8Z/7ZIUr1M=" style="color: blue;"><span style="color: rgb(39, 39, 39); text-decoration: none;">NOT-HD-24-028:
Request for Information (RFI): NICHD Strategic Plan 2025</span></a><o:p></o:p></span></p>
<p class="MsoNormal" style="margin: 0in;"><span style="font-size: 14px;"><a href="https://urldefense.com/v3/__https:/grants.nih.gov/grants/guide/notice-files/NOT-HD-24-028.html__;!!NiUAmZJ8c1GNWg!Tjqj9nVCCg7qbwCbhS1C-FoJOfAec29iJdQrHG5RKqqAJRZkXkZ168kj0_4AointVm7mV9f-4vSSdql-eh4flBMB34RPRoISmJKHOriV$" originalsrc="https://urldefense.com/v3/__https:/grants.nih.gov/grants/guide/notice-files/NOT-HD-24-028.html__;!!NiUAmZJ8c1GNWg!Tjqj9nVCCg7qbwCbhS1C-FoJOfAec29iJdQrHG5RKqqAJRZkXkZ168kj0_4AointVm7mV9f-4vSSdql-eh4flBMB34RPRoISmJKHOriV$" shash="EcJvWiMBIY8Dv/TRsu8Cv3c1DSBh8ldEdhZM1wowrkdm5lBKnzkjKxVg6FBTSh3DVokYOvbAXBKxwQUUizVATHSUFh9XFEKELiFN8L+vNhPSbt4H6Cvo86gruzgZ4A4dszBRQOrTsxFUEnY3exQLn5br7vFu65ud91t7yj/92Hs=" style="color: blue;"><span style="color: gray; text-decoration: none;">grants.nih.gov</span></a><o:p></o:p></span></p>
</div>
</td>
<td width="36" style="width: 27pt; padding: 4.5pt 9pt 4.5pt 0in;">
<p class="MsoNormal" style="margin: 0in;"><span style="font-size: 14px;"><a href="https://urldefense.com/v3/__https:/grants.nih.gov/grants/guide/notice-files/NOT-HD-24-028.html__;!!NiUAmZJ8c1GNWg!Tjqj9nVCCg7qbwCbhS1C-FoJOfAec29iJdQrHG5RKqqAJRZkXkZ168kj0_4AointVm7mV9f-4vSSdql-eh4flBMB34RPRoISmJKHOriV$" originalsrc="https://urldefense.com/v3/__https:/grants.nih.gov/grants/guide/notice-files/NOT-HD-24-028.html__;!!NiUAmZJ8c1GNWg!Tjqj9nVCCg7qbwCbhS1C-FoJOfAec29iJdQrHG5RKqqAJRZkXkZ168kj0_4AointVm7mV9f-4vSSdql-eh4flBMB34RPRoISmJKHOriV$" shash="WXbgbSy43GAB29m5iAiaZngg+oVlxsrP8KQn8ERqFQA6JOtj0a6iZ4+oFivPPa7gA8/Q157on4WwM/Lc2rIVELl+WrleguIbZyLLvS3P7Qi/7vT6zKb7qePxTkbWJPLfyvW5NV434vYLTYNW9jAC7fGElbis8vWyYpFRvwAtFW0=" style="color: blue;"><span style="color: black; text-decoration: none;"><span style="color: blue;"><img id="<D52AC0F5-6F7A-4991-94FF-E4C2FEE3AA0A>" src="cid:F7E68383-8A7A-41B5-86AA-EBF7E9C1AC32" alt="apple-touch-icon-precomposed.png" border="0" class="Apple-web-attachment" style="width: 0.375in; height: 0.375in; opacity: 1;"></span></span></a><o:p></o:p></span></p>
</td>
</tr>
</tbody>
</table>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div>
<p class="MsoNormal" style="margin: 0in;"> </p>
</div>
<div>
<p class="MsoNormal" style="margin: 0in;">Of the five research goals that they list, the top one is:<o:p></o:p></p>
</div>
<div>
<p class="MsoNormal" style="margin: 0in;"><o:p> </o:p></p>
</div>
<p class="MsoNormal" style="margin: 0in;"><b><i>“Research Goal #1: Understanding the Molecular, Cellular, and Structural Basis of Development</i></b><o:p></o:p></p>
<p class="MsoNormal" style="margin: 0in;"><i>Enhance knowledge of developmental processes and understanding of critical periods in human development, improving understanding of the origins of congenital anomalies, neurodevelopmental disorders, and intellectual
and developmental disabilities.</i><o:p></o:p></p>
<div>
<p class="MsoNormal" style="margin: 0in;"><b><i>Opportunities: </i></b><i>This goal includes a focus on understanding developmental processes by describing the intrinsic events that contribute to early human development. This goal will also focus on exploring
how extrinsic factors can influence developmental and physiological processes, particularly in the context of congenital anomalies, neurodevelopmental disorders, and intellectual and developmental disabilities. Additionally, this goal aims to enhance collaborative
developmental biology research by investing in improved infrastructure—along with novel tools and technologies—to analyze and validate data derived from model systems research, biophysics, biomechanics, optogenetics, and other emerging scientific areas. This
research area will also support the use of genomics, proteomics, and metabolomics to profile gene and protein expression and regulation at the single-cell level and characterize regulatory networks across tissues and time during development.”</i><o:p></o:p></p>
</div>
<div>
<p class="MsoNormal" style="margin: 0in;"><o:p> </o:p></p>
</div>
<div>
<p class="MsoNormal" style="margin: 0in;">We note that the other four goals seem less related to birth defects and embryonic development. Given our collective interest in embryonic development and its impact on human health,<b><u> it is imperative that we
all respond to the RFI and highlight the importance of focusing resources on this #1 research goal.</u></b><o:p></o:p></p>
</div>
<div>
<p class="MsoNormal" style="margin: 0in;"><o:p> </o:p></p>
</div>
<div>
<p class="MsoNormal" style="margin: 0in;">To that end, please respond to the RFI to help amplify the voices from our community.<o:p></o:p></p>
<p class="MsoNormal" style="margin: 0in;"> </p>
<p class="MsoNormal" style="margin: 0in;">R<span style="color: rgb(51, 51, 51); background: white;">esponses should be submitted via email to </span><a href="mailto:NICHDStrategicPlan@nih.gov" style="color: blue;"><span style="color: rgb(66, 139, 202); text-decoration: none;">NICHDStrategicPlan@nih.gov</span></a><span style="color: rgb(51, 51, 51); background: white;"> </span><span style="background: white;">,</span><strong><span style="color: rgb(51, 51, 51);">no
later than </span></strong><strong><span style="color: rgb(255, 38, 0);">Friday, September 27, 2024</span></strong><strong><span style="color: rgb(51, 51, 51);">.</span></strong><span style="color: rgb(51, 51, 51); background: white;"> </span><strong><i><span style="color: rgb(51, 51, 51);">Please
indicate RFI Response in the subject line of the email</span></i></strong><i><span style="color: rgb(51, 51, 51);">. “</span></i><o:p></o:p></p>
</div>
<div>
<p class="MsoNormal" style="margin: 0in;"><o:p> </o:p></p>
</div>
<div>
<p class="MsoNormal" style="margin: 0in;">In order to make it as easy as possible to send this email, we offer the following template. P<span style="color: rgb(51, 51, 51);">lease consider modifying and sending </span>to NICHD<span style="color: rgb(51, 51, 51);">.
Also please feel free to forward to other interested folks, research, and clinical communities.</span></p>
<p class="MsoNormal" style="margin: 0in;"><span style="color: rgb(51, 51, 51);"><br>
</span></p>
<p class="MsoNormal" style="margin: 0in;"><span style="color: rgb(51, 51, 51);">Mustafa Khokha, Yale University</span></p>
<p class="MsoNormal" style="margin: 0in;"><font color="#333333">Rolf Stottmann, Nationwide Children’s</font></p>
<p class="MsoNormal" style="margin: 0in;"><font color="#333333">Irene Zohn, Children’s National</font></p>
</div>
<div>
<p class="MsoNormal" style="margin: 0in; font-family: Calibri, sans-serif;"><o:p> </o:p></p>
</div>
<div>
<p class="MsoNormal" style="margin: 0in; font-size: medium; font-family: Aptos, sans-serif;">
<br>
</p>
<p class="MsoNormal" style="margin: 0in; font-size: medium; font-family: Aptos, sans-serif;">
<br>
</p>
<p class="MsoNormal" style="margin: 0in; font-size: medium; font-family: Aptos, sans-serif;">
Dear NICHD Strategic Planning Group:<o:p></o:p></p>
<p class="MsoNormal" style="margin: 0in; font-size: medium; font-family: Aptos, sans-serif;">
<o:p></o:p></p>
<p class="MsoNormal" style="margin: 0in; font-size: medium; font-family: Aptos, sans-serif;">
I write to emphasize the critical importance of Research Goal #1. Congenital anomalies are the #1 cause of infant mortality, mortality of children under five, and hospitalizations of children and therefore should be a primary importance for NICHD. In fact,
I am delighted that NICHD has listed <b><i><u>Understanding the basis of development</u></i></b> as the #1 goal and hope that resources would be primarily dedicated towards addressing this major health problem.<o:p></o:p></p>
<p class="MsoNormal" style="margin: 0in; font-size: medium; font-family: Aptos, sans-serif;">
<o:p></o:p></p>
<p class="MsoNormal" style="margin: 0in; font-size: medium; font-family: Aptos, sans-serif;">
I wholeheartedly agree that a strong emphasis in the next strategic plan should be to support Research Goal #1 as listed in the current RFI. In fact, the development biology research community and physicians caring for children with congenital anomalies is
drafting a white paper to summarize the state of research on congenital anomalies. Our community identifies a number of key priorities and opportunities in this area of research. For me a critical issue is the following:<o:p></o:p></p>
<p class="MsoNormal" style="margin: 0in; font-size: medium; font-family: Aptos, sans-serif;">
<o:p></o:p></p>
<p class="MsoNormal" style="margin: 0in; font-size: medium; font-family: Aptos, sans-serif;">
<span style="background: yellow;"><<INSERT priority from the list below: this is the list of 6 major points identified by the congenital anomaly community and serves as a high-level summary of the white paper.>>></span><o:p></o:p></p>
<p class="MsoNormal" style="margin: 0in; font-size: medium; font-family: Aptos, sans-serif;">
<o:p></o:p></p>
<p class="MsoNormal" style="margin: 0in; font-size: medium; font-family: Aptos, sans-serif;">
My view is that advancing our understanding of embryonic development is essential to attack the scourge of congenital anomalies that afflicts young children in the US more than any other disease. I strongly recommend that the NICHD allocate resources to address
this problem as well as work with other Institutes in collaboration to support work on other organ specific congenital anomalies. Addressing the gaps in knowledge in the causes, treatment and prevention of congenital anomalies will require cross disciplinary
collaborations. Child health starts with development of healthy newborns as congenital anomalies are the most common cause of infant death in the US. This should be the primary health issue of NICHD, which will make a tremendous impact on the health of our
children worldwide.<o:p></o:p></p>
<p class="MsoNormal" style="margin: 0in; font-size: medium; font-family: Aptos, sans-serif;">
<o:p></o:p></p>
<p class="MsoNormal" style="margin: 0in; font-size: medium; font-family: Aptos, sans-serif;">
Sincerely<o:p></o:p></p>
<p class="MsoNormal" style="margin: 0in; font-size: medium; font-family: Aptos, sans-serif;">
<span style="background-color: rgb(255, 251, 0);">XXX</span><o:p></o:p></p>
<p class="MsoNormal" style="margin: 0in; font-size: medium; font-family: Aptos, sans-serif;">
<br>
</p>
<p class="MsoNormal" style="margin: 0in; font-size: medium; font-family: Aptos, sans-serif;">
<br>
</p>
<p class="MsoNormal" style="margin: 0in; font-size: medium; font-family: Aptos, sans-serif;">
<br>
</p>
<p class="MsoListParagraph" style="font-size: 12pt; text-indent: 0in; margin: 0in 0in 6pt; font-family: Calibri, sans-serif;">
<b><span style="font-size: 11pt; font-family: Arial, sans-serif;">1.<span style="font-weight: normal; font-stretch: normal; font-size: 7pt; line-height: normal; font-family: "Times New Roman"; font-size-adjust: none; font-kerning: auto; font-variant-alternates: normal; font-variant-ligatures: normal; font-variant-numeric: normal; font-variant-east-asian: normal; font-variant-position: normal; font-feature-settings: normal; font-optical-sizing: auto; font-variation-settings: normal;"> </span></span></b><b><u><span style="font-size: 11pt; font-family: Arial, sans-serif;">Congenital
Anomalies are prevalent and are the #1 cause of infant mortality.</span></u></b><b><span style="font-size: 11pt; font-family: Arial, sans-serif;"> </span></b><span style="font-size: 11pt; font-family: Arial, sans-serif; color: rgb(22, 23, 25); background: white;">Congenital
anomalies are structural or functional abnormalities that originate before birth. </span><span style="font-size: 11pt; font-family: Arial, sans-serif;">Congenital<span style="color: rgb(22, 23, 25); background: white;"> anomalies </span>are the leading cause
of infant mortality and hospitalizations of children in the United States and Europe. Children with congenital anomalies require expensive and ongoing medical care to treat chronic illness and disability. Despite being a major societal issue, the public is
generally unaware of the impact, so the resources allocated to<span style="color: rgb(22, 23, 25); background: white;"> investigating the causes of congenital anomalies are disproportionately low.</span> To change this, educating the public about the impact
of congenital anomalies on patients, families, caregivers, and society will be crucial. Finding the causes of congenital anomalies will be transformative for patients by allowing them to access targeted medical interventions, education, <span style="color: rgb(33, 33, 33); background: white;">genetic
counseling, and research studies of long-term outcomes of the specific disorder. Additionally, specific molecular diagnoses enable community building of similarly affected patients for social support, primarily via social media. Thus, public support of increased
funding to identify </span>the causes of congenital anomalies will significantly improve the lives of affected children.<b><u><o:p></o:p></u></b></span></p>
<p class="MsoListParagraphCxSpLast" style="font-size: 12pt; text-indent: 0in; margin: 0in 0in 6pt; font-family: Calibri, sans-serif;">
<b><span style="font-size: 11pt; font-family: Arial, sans-serif; color: rgb(22, 23, 25);">2.<span style="font-weight: normal; font-stretch: normal; font-size: 7pt; line-height: normal; font-family: "Times New Roman"; font-size-adjust: none; font-kerning: auto; font-variant-alternates: normal; font-variant-ligatures: normal; font-variant-numeric: normal; font-variant-east-asian: normal; font-variant-position: normal; font-feature-settings: normal; font-optical-sizing: auto; font-variation-settings: normal;"> </span></span></b><b><u><span style="font-size: 11pt; font-family: Arial, sans-serif;">Scientists
are making progress in identifying the causes of congenital anomalies, but more work remains.</span></u></b><b><span style="font-size: 11pt; font-family: Arial, sans-serif;"> </span></b><span style="font-size: 11pt; font-family: Arial, sans-serif;">Although
scientists have made significant strides in identifying the causes of many congenital anomalies, countless patients and families still do not know the molecular basis of their disease and are seeking answers. Known causes of <span style="color: rgb(22, 23, 25); background: white;">congenital
anomalies </span><span style="color: rgb(33, 33, 33); background: white;">include chromosomal disorders, single-gene defects, multifactorial inheritance, and environmental factors such as micronutrient malnutrition and maternal illness. Because of recent technological
advances, the discovery of the genetic basis of congenital malformations has never been more tractable. </span><span style="color: rgb(22, 23, 25); background: white;">However, genotype-phenotype correlations can be variable; in some cases, variants in a gene
can lead to predictable phenotypes, while in other cases, vastly different anomalies. </span>Despite<span style="color: rgb(33, 33, 33); background: white;"> these complexities, g</span>ene discovery in congenital anomalies is challenging but achievable. <span style="color: rgb(22, 23, 25); background: white;">Importantly,
identifying the genetic basis of congenital anomalies enables the generation of experimental models that can be used to study the underlying developmental mechanisms of the disorder and develop treatments. The genetic basis of congenital anomalies is diverse,
and understanding the molecular mechanisms can have broad implications and can be leveraged across many diseases.<o:p></o:p></span></span></p>
<p class="MsoNormal" style="margin: 0in; font-size: medium; font-family: Calibri, sans-serif; text-align: justify;">
<b><u><span style="font-size: 11pt; font-family: Arial, sans-serif;">3. Genome Sequencing is cost-effective but underutilized.<o:p></o:p></span></u></b></p>
<p class="MsoNormal" style="margin: 0in 0in 6pt; font-size: medium; font-family: Calibri, sans-serif;">
<span style="font-size: 11pt; font-family: Arial, sans-serif;">The genetic causes of many congenital anomalies are still unknown, but advances in DNA and RNA sequencing technologies continue to improve our understanding. The clinical investigation into the
cause of a congenital anomaly can involve a complex “diagnostic odyssey,” subjecting fragile children to months or years of tests and referrals that may still fail to make a diagnosis. Genome sequencing can mitigate this diagnostic odyssey, and children with
congenital anomalies should have early access to genetic testing. In addition, the cost of a one-time genome sequence test in young children can be reused in multiple future medical encounters. This facilitates the application of precision medicine approaches
to improve their care and enrollment in clinical trials.<i> </i>Evidence-based research into how best to implement and integrate genomic screening into clinical practice and research is needed. Importantly, genomic sequencing results must be incorporated into
the medical record and fully exploited to improve care. Broad-based genomic sequencing can systemically reduce racial disparities in healthcare access. Using sequencing in this way will improve patient care for everyone.<o:p></o:p></span></p>
<p class="MsoNormal" style="margin: 0in; font-size: medium; font-family: Calibri, sans-serif;">
<b><u><span style="font-size: 11pt; font-family: Arial, sans-serif;">4. Identification of sequence variants is not enough; functional testing of suspected variants and elucidation of the molecular mechanisms of disease pathogenesis will improve diagnosis and
treatment.<o:p></o:p></span></u></b></p>
<p class="MsoNormal" style="margin: 0in 0in 6pt; font-size: medium; font-family: Calibri, sans-serif;">
<span style="font-size: 11pt; font-family: Arial, sans-serif;">Our capacity to identify genetic variants is outpacing our ability to interpret them. To complement the diagnostic advantage of genome sequencing, functional studies of identified genetic variants,
especially the genes and variants of unknown significance (VUS), and their association with disease pathogenesis are essential. Understanding the functional significance of genetic variation increases diagnostic precision, uncovers disease pathogenesis to
identify new therapeutic options, and, more generally, increases fundamental knowledge of human biology. Multiple complementary biological model systems are essential for efficient functional testing of suspected variants. Flexible funding mechanisms to encourage
experimental modeling of candidate genes/variants will be crucial to achieving this goal. Resources are required to analyze, curate, integrate, and disseminate data generated from functional studies. This will be key to understanding the complex and interconnected
relationships among the genes, variants, and environmental factors underlying congenital anomalies.<o:p></o:p></span></p>
<p class="MsoNormal" style="margin: 0in 0in 6pt; font-size: medium; font-family: Calibri, sans-serif;">
<span style="font-size: 11pt; font-family: Arial, sans-serif;"> </span></p>
<p class="MsoNormal" style="margin: 0in 0in 6pt; font-size: medium; font-family: Calibri, sans-serif;">
<b><u><span style="font-size: 11pt; font-family: Arial, sans-serif;">5. Congenital Anomaly research requires a collaborative understanding of patient phenotype, genetic variation, and biological mechanisms.<o:p></o:p></span></u></b></p>
<p class="MsoNormal" style="margin: 0in 0in 6pt; font-size: medium; font-family: Calibri, sans-serif;">
<span style="font-size: 11pt; font-family: Arial, sans-serif;">Congenital anomalies research requires input from disparate fields of biology and the clinic. We must improve communication between clinicians and bench scientists to advance the field. <span style="color: rgb(33, 33, 33); background: white;">Moreover,
incentives are needed to facilitate the participation of clinical providers and their patients in research studies. Focused grant funding</span> with special study sections to encourage preliminary scientific investigations and interdisciplinary translational
research on congenital anomalies will be essential to accelerate discoveries and improve the lives of patients/families.<o:p></o:p></span></p>
<p class="MsoNormal" style="margin: 0in; font-size: medium; font-family: Calibri, sans-serif;">
<b><u><span style="font-size: 11pt; font-family: Arial, sans-serif;">6. Return of results to patients/families and potential for treatments can have an extraordinary impact.<o:p></o:p></span></u></b></p>
<p class="MsoNormal" style="margin: 0in 0in 6pt; font-size: medium; font-family: Calibri, sans-serif;">
<span style="font-size: 11pt; font-family: Arial, sans-serif;">Etiologies of congenital anomalies can be ultra-rare and lead to feelings of isolation and desperation to get answers. As recently recommended by the National Academies (2018), it is therefore imperative
that patients and families be treated as participants in research, meaning individual research results should be returned to patients, families, and clinicians while fostering an understanding of implications and limitations. The return of research results
creates transparency in the research endeavor and offers multiple benefits for patients/families. These include 1) an appreciation of the scientific efforts to understand the cause and pathogenesis of the disorder, which affects a family’s well-being, 2) a
needed sense of support from the researchers, 3) an opportunity to connect with other families with shared experience often through social media and 4) hope for potential treatments if not for themselves than for future patients. Patients with congenital anomalies
have few therapeutic options beyond surgery; improving this is a critical need for the future of precision medicine. </span></p>
</div>
</div>
</div>
</body>
</html>